Variant report

Variant	nsv533153
Chromosome Location	chr2:32514528-33249136
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7191)
CpG islands
(count:4523)
Chromatin interactive
region (count:512)
LncRNA
region (count:111)
Mature miRNA
region (count: 2)
miRNA target
sites (count:7)

(count:7191 , 50 per page) page: 1 2 3 4 5 6 7 ... 144

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:32858261-32858418	K562	blood:	n/a	n/a
2	ARID3A	chr2:33226994-33227246	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:33244964-33245164	K562	blood:	n/a	n/a
4	ARID3A	chr2:32667025-32667589	HepG2	liver:	n/a	chr2:32667295-32667311
5	ARID3A	chr2:32852895-32853266	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:32556387-32556700	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:33185346-33186670	K562	blood:	n/a	n/a
8	ARID3A	chr2:32514236-32514609	K562	blood:	n/a	n/a
9	ARID3A	chr2:32946460-32946757	K562	blood:	n/a	n/a
10	ARID3A	chr2:32581694-32582224	K562	blood:	n/a	n/a
11	ARID3A	chr2:32586915-32587075	HepG2	liver:	n/a	n/a
12	ARID3A	chr2:32581536-32582419	HepG2	liver:	n/a	n/a
13	ARID3A	chr2:33181117-33181278	K562	blood:	n/a	n/a
14	ARID3A	chr2:33058909-33059022	K562	blood:	n/a	n/a
15	ARID3A	chr2:33030069-33030809	HepG2	liver:	n/a	n/a
16	ARID3A	chr2:32857326-32857639	K562	blood:	n/a	n/a
17	ARID3A	chr2:33141143-33141554	HepG2	liver:	n/a	n/a
18	ARID3A	chr2:33175022-33175445	K562	blood:	n/a	n/a
19	ARID3A	chr2:33190665-33190848	K562	blood:	n/a	n/a
20	ARID3A	chr2:32554120-32554721	HepG2	liver:	n/a	n/a
21	ARID3A	chr2:33119076-33119529	K562	blood:	n/a	n/a
22	ARID3A	chr2:32815131-32815135	K562	blood:	n/a	n/a
23	ARID3A	chr2:33171330-33171675	K562	blood:	n/a	n/a
24	ARID3A	chr2:32514272-32514602	HepG2	liver:	n/a	n/a
25	ARID3A	chr2:32993323-32994137	K562	blood:	n/a	n/a
26	ARID3A	chr2:32678784-32679113	HepG2	liver:	n/a	n/a
27	ARID3A	chr2:33002613-33003226	HepG2	liver:	n/a	n/a
28	ARID3A	chr2:33247797-33249376	K562	blood:	n/a	chr2:33248889-33248905
29	ARID3A	chr2:33248405-33248594	HepG2	liver:	n/a	n/a
30	ARID3A	chr2:32704957-32705557	K562	blood:	n/a	n/a
31	ARID3A	chr2:32816899-32817528	K562	blood:	n/a	n/a
32	ATF1	chr2:32872262-32872524	K562	blood:	n/a	n/a
33	ATF1	chr2:32710011-32710380	K562	blood:	n/a	n/a
34	ATF1	chr2:33175066-33175451	K562	blood:	n/a	n/a
35	ATF1	chr2:32836490-32836739	K562	blood:	n/a	n/a
36	ATF1	chr2:32514235-32514588	K562	blood:	n/a	n/a
37	ATF1	chr2:33171355-33172083	K562	blood:	n/a	chr2:33171922-33171936
38	ATF1	chr2:32817084-32817526	K562	blood:	n/a	n/a
39	ATF1	chr2:32581509-32582343	K562	blood:	n/a	n/a
40	ATF1	chr2:33248183-33248687	K562	blood:	n/a	n/a
41	ATF1	chr2:33119131-33119514	K562	blood:	n/a	n/a
42	ATF1	chr2:32661286-32661606	K562	blood:	n/a	n/a
43	ATF1	chr2:33158402-33158866	K562	blood:	n/a	n/a
44	ATF1	chr2:32993451-32993906	K562	blood:	n/a	n/a
45	ATF1	chr2:33246713-33247139	K562	blood:	n/a	n/a
46	ATF1	chr2:33244969-33245176	K562	blood:	n/a	n/a
47	ATF1	chr2:32783652-32783878	K562	blood:	n/a	n/a
48	ATF1	chr2:33090668-33091073	K562	blood:	n/a	n/a
49	ATF1	chr2:32946452-32946958	K562	blood:	n/a	n/a
50	ATF1	chr2:33062116-33062407	K562	blood:	n/a	n/a

(count:4523 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:32853039-32853089	A549	lung:	n/a
2	chr2:32853008-32853058	ECC-1	luminal epithelium:	n/a
3	chr2:32582276-32582326	HEK293	kidney:	embryo
4	chr2:33245988-33246038	HIPEpiC	eye:	n/a
5	chr2:32757307-32757357	AG04449	skin:	fetal
6	chr2:33150993-33151043	A549	lung:	n/a
7	chr2:33183321-33183371	HUVEC	blood vessel:	n/a
8	chr2:32852931-32852981	GM12892	blood:	n/a
9	chr2:33152037-33152087	HUVEC	blood vessel:	n/a
10	chr2:32853039-32853089	A549	lung:	n/a
11	chr2:32853008-32853058	ECC-1	luminal epithelium:	n/a
12	chr2:32582276-32582326	HEK293	kidney:	embryo
13	chr2:33245988-33246038	HIPEpiC	eye:	n/a
14	chr2:32757307-32757357	AG04449	skin:	fetal
15	chr2:33150993-33151043	A549	lung:	n/a
16	chr2:33183321-33183371	HUVEC	blood vessel:	n/a
17	chr2:32852931-32852981	GM12892	blood:	n/a
18	chr2:33152037-33152087	HUVEC	blood vessel:	n/a
19	chr2:33111675-33111725	HEEpiC	esophagus:	n/a
20	chr2:33171784-33171834	AoSMC	blood vessel:	n/a
21	chr2:32853008-32853058	GM12891	blood:	n/a
22	chr2:33157742-33157792	HMEC	breast:	n/a
23	chr2:33107130-33107180	BE2_C	brain:	n/a
24	chr2:32581937-32581987	Hepatocyte	liver:	n/a
25	chr2:32678846-32678896	SAEC	small airway:	n/a
26	chr2:33173163-33173213	SKMC	muscle:	n/a
27	chr2:32581937-32581987	GM12891	blood:	n/a
28	chr2:33172442-33172492	U87	brain:	n/a
29	chr2:33111675-33111725	SAEC	small airway:	n/a
30	chr2:32853229-32853279	GM12891	blood:	n/a
31	chr2:32852931-32852981	BE2_C	brain:	n/a
32	chr2:32855761-32855811	ovcar-3	ovarian:	n/a
33	chr2:33226136-33226186	Hepatocyte	liver:	n/a
34	chr2:32855761-32855811	ProgFib	skin:	n/a
35	chr2:33175761-33175811	MCF-7	breast:	n/a
36	chr2:32905314-32905364	MCF-7	breast:	n/a
37	chr2:32582998-32583048	GM12878	blood:	n/a
38	chr2:32519464-32519514	PrEC	prostate:	n/a
39	chr2:33057712-33057762	SK-N-SH	brain:	n/a
40	chr2:32578646-32578696	K562	blood:	n/a
41	chr2:32853039-32853089	SK-N-MC	brain:	n/a
42	chr2:32853069-32853119	HAEpiC	amniotic membrane:	n/a
43	chr2:33171334-33171384	ProgFib	skin:	n/a
44	chr2:32583264-32583314	HCT-116	colon:	n/a
45	chr2:32757069-32757119	GM12892	blood:	n/a
46	chr2:33111675-33111725	NHDF-neo	bronchial:	n/a
47	chr2:33226136-33226186	HEEpiC	esophagus:	n/a
48	chr2:33107130-33107180	SK-N-SH	brain:	n/a
49	chr2:32581594-32581644	H1-hESC	embryonic stem cell:	embryo
50	chr2:32581711-32581761	GM12891	blood:	n/a

(count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Distal block	Cell Line	Cell type
1	chr2:33060919..33062903-chr2:33067593..33069327,2	K562	blood:
2	chr2:33236874..33239826-chr2:33244098..33246940,3	K562	blood:
3	chr2:33193460..33194999-chr2:33195672..33198553,2	K562	blood:
4	chr2:33193460..33194999-chr2:33195672..33198553,2	K562	blood:
5	chr2:33155767..33157541-chr2:33161643..33163484,2	MCF-7	breast:
6	chr2:33120235..33122609-chr2:33124113..33127663,3	K562	blood:
7	chr2:32590070..32592084-chr2:32594046..32595930,2	MCF-7	breast:
8	chr2:32867638..32869505-chr2:32872152..32874163,2	K562	blood:
9	chr2:33028721..33031783-chr2:33036094..33038585,3	MCF-7	breast:
10	chr2:33070865..33072906-chr2:33075561..33077812,2	K562	blood:
11	chr2:32705619..32707758-chr2:32716833..32718434,2	K562	blood:
12	chr2:32581531..32584315-chr2:32593055..32595165,2	MCF-7	breast:
13	chr2:33030285..33032315-chr2:33034314..33037985,3	MCF-7	breast:
14	chr2:32801178..32803170-chr2:32805443..32807726,2	K562	blood:
15	chr2:32393531..32396327-chr2:32515532..32517225,2	K562	blood:
16	chr2:32581612..32584809-chr2:32595281..32597083,3	MCF-7	breast:
17	chr2:32821876..32823612-chr2:32840006..32842044,2	MCF-7	breast:
18	chr2:32389094..32391536-chr2:32818889..32821043,2	K562	blood:
19	chr2:32651894..32653691-chr2:32654473..32656959,2	K562	blood:
20	chr2:33150931..33153708-chr2:33172619..33175250,2	K562	blood:
21	chr2:32697674..32700411-chr2:32709724..32712334,2	MCF-7	breast:
22	chr2:32502666..32505534-chr2:32516994..32519037,2	K562	blood:
23	chr2:33182647..33184482-chr2:33246726..33248264,2	K562	blood:
24	chr2:33149920..33152685-chr2:33161430..33164059,2	K562	blood:
25	chr2:32762219..32764200-chr2:32765014..32767388,2	MCF-7	breast:
26	chr2:32595286..32596808-chr2:32602648..32604852,2	MCF-7	breast:
27	chr2:32548238..32549748-chr2:32550236..32552795,2	MCF-7	breast:
28	chr2:32581681..32582542-chr3:49058431..49058996,2	Hela-S3	cervix:
29	chr2:32992344..32996363-chr2:33170920..33175080,5	K562	blood:
30	chr2:32582158..32583820-chr2:32797519..32800211,2	MCF-7	breast:
31	chr17:58156666..58159203-chr2:32815552..32818507,2	MCF-7	breast:
32	chr2:32900563..32903337-chr2:32907428..32909119,2	K562	blood:
33	chr2:32988820..32990654-chr2:32992248..32994627,2	K562	blood:
34	chr2:33120235..33122609-chr2:33124113..33127663,3	K562	blood:
35	chr2:32584914..32587228-chr2:32703630..32705353,2	K562	blood:
36	chr2:32853245..32854970-chr2:32871945..32873831,2	K562	blood:
37	chr2:32649820..32653520-chr2:32656022..32658272,3	K562	blood:
38	chr2:32501694..32504446-chr2:32547424..32550078,2	MCF-7	breast:
39	chr2:33247213..33249439-chr2:33251829..33254017,2	K562	blood:
40	chr2:32858367..32860231-chr2:32866296..32867974,2	K562	blood:
41	chr2:33011574..33013407-chr2:33027866..33029840,2	K562	blood:
42	chr2:33243595..33246281-chr2:33246709..33250421,3	MCF-7	breast:
43	chr11:18417328..18418003-chr2:32581821..32582442,2	Hela-S3	cervix:
44	chr2:32560243..32562479-chr2:32577672..32580321,2	K562	blood:
45	chr2:33019705..33021569-chr2:33023951..33026506,2	K562	blood:
46	chr2:33001090..33004313-chr2:33170571..33173940,5	MCF-7	breast:
47	chr2:32983536..32985486-chr2:32986721..32988406,2	MCF-7	breast:
48	chr2:32502844..32505552-chr2:32580260..32584122,5	K562	blood:
49	chr2:32821203..32823785-chr2:32842846..32844396,2	K562	blood:
50	chr2:32531368..32534340-chr2:32540006..32541759,2	K562	blood:

(count:111 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC27-1	chr2:33127130-33127190	NONHSAT069999
2	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
3	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
4	lnc-BIRC6-1	chr2:32980634-32980694	NONHSAT069986
5	lnc-BIRC6-1	chr2:32980634-32980694	NONHSAT069988
6	lnc-TTC27-1	chr2:33107766-33107893	ENSG00000230876
7	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
8	lnc-TTC27-1	chr2:33107994-33108117	XLOC_001418
9	lnc-TTC27-1	chr2:33152163-33152729	XLOC_001418
10	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
11	lnc-TTC27-1	chr2:33153931-33153983	NONHSAT070002
12	lnc-TTC27-1	chr2:33152163-33153190	XLOC_001418
13	lnc-TTC27-1	chr2:33150420-33151589	XLOC_001418
14	lnc-TTC27-1	chr2:33062378-33062472	XLOC_001418
15	lnc-TTC27-1	chr2:33153303-33153472	NONHSAT070002
16	lnc-TTC27-1	chr2:33066080-33066300	XLOC_001418
17	lnc-TTC27-1	chr2:33121992-33122046	ENSG00000230876
18	lnc-TTC27-1	chr2:33066081-33066300	XLOC_001418
19	lnc-TTC27-1	chr2:33066081-33066300	ENSG00000230876
20	lnc-TTC27-1	chr2:33162095-33162270	XLOC_001418
21	lnc-TTC27-1	chr2:33061597-33061801	XLOC_001418
22	lnc-BIRC6-2	chr2:33006807-33006976	ucscGeneNc_uc002ror_2
23	lnc-YIPF4-1	chr2:32534100-32537281	XLOC_001417
24	lnc-BIRC6-1	chr2:32977111-32977213	NONHSAT069988
25	lnc-BIRC6-1	chr2:32961498-32961621	NONHSAT069987
26	lnc-TTC27-1	chr2:33162095-33162270	XLOC_001418
27	lnc-TTC27-1	chr2:33107766-33107893	XLOC_001418
28	lnc-BIRC6-1	chr2:32977111-32977213	NONHSAT069986
29	lnc-TTC27-1	chr2:33153132-33153190	XLOC_001418
30	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
31	lnc-TTC27-1	chr2:33152179-33152413	NONHSAT070003
32	lnc-TTC27-1	chr2:33153303-33153472	XLOC_001418
33	lnc-BIRC6-1	chr2:32919584-32919804	NONHSAT069986
34	lnc-TTC27-1	chr2:33062378-33062472	XLOC_001418
35	lnc-TTC27-1	chr2:33062378-33062472	XLOC_001418
36	lnc-TTC27-1	chr2:33107994-33108117	ENSG00000230876
37	lnc-TTC27-1	chr2:33152194-33152413	XLOC_001418
38	lnc-TTC27-1	chr2:33162095-33162195	XLOC_001418
39	lnc-TTC27-1	chr2:33153099-33153190	XLOC_001418
40	lnc-TTC27-1	chr2:33153303-33153472	XLOC_001418
41	lnc-BIRC6-1	chr2:32977111-32977213	NONHSAT069987
42	lnc-TTC27-1	chr2:33153303-33153472	NONHSAT070004
43	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
44	lnc-TTC27-1	chr2:33153303-33153472	XLOC_001418
45	lnc-BIRC6-1	chr2:32919585-32919804	NONHSAT069987
46	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
47	lnc-TTC27-1	chr2:33065837-33065996	XLOC_001418
48	lnc-TTC27-1	chr2:33121992-33122046	XLOC_001418
49	lnc-TTC27-1	chr2:33170294-33170326	XLOC_001418
50	lnc-TTC27-1	chr2:33066080-33066300	XLOC_001418

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4765	chr2:32860367-32860388	MIMAT0019916
hsa-miR-558	chr2:32757280-32757298	MIMAT0003222

(count:7 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	BIRC6	hsa-let-7a-5p	chr2:32843468-32843490
2	BIRC6	hsa-miR-34a-5p	chr2:32843220-32843241
3	BIRC6	hsa-let-7b-5p	chr2:32843468-32843490
4	BIRC6	hsa-let-7b-5p	chr2:32843237-32843260
5	BIRC6	hsa-let-7a-5p	chr2:32843237-32843260
6	BIRC6	hsa-miR-218-5p	chr2:32842996-32843017
7	BIRC6	hsa-miR-218-5p	chr2:32843010-32843017

Variant related genes	Relation type
MIR558	TF binding region
BIRC6-AS1	TF binding region
YIPF4	TF binding region
ENSG00000272754	TF binding region
MIR4765	TF binding region
ENSG00000252502	TF binding region
LTBP1	TF binding region
LINC00486	TF binding region
ENSG00000236854	TF binding region
TTC27	TF binding region
BIRC6	TF binding region
ENSG00000206951	TF binding region
MIR558	CpG island
BIRC6-AS1	CpG island
YIPF4	CpG island
ENSG00000272754	CpG island
MIR4765	CpG island
ENSG00000252502	CpG island
LTBP1	CpG island
LINC00486	CpG island
ENSG00000236854	CpG island
TTC27	CpG island
BIRC6	CpG island
ENSG00000206951	CpG island
ENSG00000068308	chromatin interactions
ENSG00000119820	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000152683	chromatin interactions
ENSG00000230046	chromatin interactions
ENSG00000272716	chromatin interactions
ENSG00000169764	chromatin interactions
ENSG00000115760	chromatin interactions
ENSG00000265057	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000272754	chromatin interactions
ENSG00000267416	chromatin interactions
ENSG00000236854	chromatin interactions
ENSG00000151151	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000134333	chromatin interactions
ENSG00000021574	chromatin interactions
ENSG00000091106	chromatin interactions
ENSG00000206951	chromatin interactions
ENSG00000162959	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000171161	chromatin interactions
ENSG00000018699	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000223951	chromatin interactions
ENSG00000185608	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000230876	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000127080	chromatin interactions
ENSG00000049323	chromatin interactions
GATAD2B	miRNA target sites
MBTD1	miRNA target sites
RFFL	miRNA target sites
CCDC165	miRNA target sites
RET	miRNA target sites
CCDC117	miRNA target sites
MRPL19	miRNA target sites
POGK	miRNA target sites
REST	miRNA target sites
CCDC28A	miRNA target sites
CCDC19	miRNA target sites
REV3L	miRNA target sites
HMGA2	miRNA target sites
FOXG1	miRNA target sites
POGZ	miRNA target sites
RFX1	miRNA target sites
POGLUT1	miRNA target sites
KRAS	miRNA target sites
SYMPK	miRNA target sites
MBNL3	miRNA target sites

Extended variants
information (count: 29337 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:29337 , 50 per page) page: 1 2 3 4 5 6 7 ... 587

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547312971	chr2:32514539-32514540	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549890493	chr2:32514626-32514627	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562169200	chr2:32514645-32514646	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145772035	chr2:32514690-32514691	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72865565	chr2:32514732-32514733	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148945526	chr2:32514749-32514750	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533852209	chr2:32514773-32514774	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529448947	chr2:32514791-32514792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553920770	chr2:32514815-32514816	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs573803477	chr2:32514819-32514820	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs139055440	chr2:32514864-32514865	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542725005	chr2:32515097-32515098	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547984042	chr2:32515119-32515120	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556330750	chr2:32515191-32515192	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112214201	chr2:32515238-32515239	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs544994598	chr2:32515327-32515328	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs72798731	chr2:32515337-32515338	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562827372	chr2:32515338-32515339	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs182431387	chr2:32515370-32515371	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541401476	chr2:32515389-32515390	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113864195	chr2:32515394-32515395	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs458628	chr2:32515398-32515399	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs148128126	chr2:32515409-32515410	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569785420	chr2:32515411-32515412	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs532471614	chr2:32515461-32515462	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs367557994	chr2:32515508-32515509	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142537037	chr2:32515532-32515533	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376754632	chr2:32515537-32515538	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565978849	chr2:32515546-32515547	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534644961	chr2:32515567-32515568	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189909928	chr2:32515585-32515586	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553812039	chr2:32515593-32515594	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs140692010	chr2:32515595-32515596	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201109796	chr2:32515609-32515610	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376446366	chr2:32515615-32515616	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs145851072	chr2:32515629-32515630	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375856639	chr2:32515646-32515647	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567440586	chr2:32515667-32515668	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs76251139	chr2:32515691-32515692	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115575403	chr2:32515694-32515695	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs199911263	chr2:32515728-32515729	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369089694	chr2:32515766-32515767	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556416154	chr2:32515768-32515769	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs146916067	chr2:32515801-32515802	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545134766	chr2:32515834-32515835	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs199963256	chr2:32515855-32515856	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574553339	chr2:32515884-32515885	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535588024	chr2:32515893-32515894	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546152891	chr2:32515915-32515916	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558516663	chr2:32515959-32515960	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:14952 , 50 per page) page: 1 2 3 4 5 6 7 ... 300

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32503600-32518600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:32503800-32520400	Weak transcription	Spleen	Spleen
3	chr2:32504000-32515400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:32504000-32516800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:32504000-32516800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:32504000-32516800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:32504000-32520200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:32504000-32520600	Weak transcription	Aorta	Aorta
9	chr2:32504000-32531200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:32504000-32537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:32504000-32540200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:32504000-32549400	Weak transcription	HSMMtube	muscle
13	chr2:32504200-32514600	Weak transcription	Brain Angular Gyrus	brain
14	chr2:32504200-32516800	Weak transcription	HSMM	muscle
15	chr2:32504200-32520000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:32504200-32520200	Weak transcription	Fetal Kidney	kidney
17	chr2:32504200-32520400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:32504200-32524400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:32504400-32514600	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:32504400-32516400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:32504400-32520200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:32504400-32520200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:32504800-32537600	Weak transcription	Fetal Brain Male	brain
24	chr2:32505200-32515400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:32507400-32516600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:32507400-32520200	Weak transcription	Fetal Lung	lung
27	chr2:32507600-32516600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:32507600-32520200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:32507600-32528000	Weak transcription	GM12878-XiMat	blood
30	chr2:32507800-32517800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:32507800-32520000	Weak transcription	Brain Germinal Matrix	brain
32	chr2:32507800-32550000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:32508200-32519000	Weak transcription	Lung	lung
34	chr2:32508400-32515600	Weak transcription	Fetal Intestine Large	intestine
35	chr2:32508400-32517000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:32508400-32519200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:32508400-32534200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:32508800-32514600	Weak transcription	Brain Anterior Caudate	brain
39	chr2:32509800-32515800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:32510000-32515600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:32510000-32516000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:32510000-32516200	Weak transcription	Fetal Stomach	stomach
43	chr2:32510000-32520200	Weak transcription	Brain Substantia Nigra	brain
44	chr2:32510000-32528200	Weak transcription	Esophagus	oesophagus
45	chr2:32510200-32515400	Weak transcription	Dnd41	blood
46	chr2:32510200-32515600	Weak transcription	Fetal Thymus	thymus
47	chr2:32510200-32516400	Weak transcription	Fetal Brain Female	brain
48	chr2:32510200-32516400	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:32510200-32519000	Weak transcription	Thymus	Thymus
50	chr2:32510200-32520400	Weak transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links