Variant report

Variant	nsv1001300
Chromosome Location	chr2:32640768-33326484
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6626)
CpG islands
(count:3847)
Chromatin interactive
region (count:507)
LncRNA
region (count:107)
Mature miRNA
region (count: 2)
miRNA target
sites (count:7)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:33247797-33249376	K562	blood:	n/a	chr2:33248889-33248905
2	ARID3A	chr2:33002613-33003226	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:32852895-32853266	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:32667025-32667589	HepG2	liver:	n/a	chr2:32667295-32667311
5	ARID3A	chr2:32704957-32705557	K562	blood:	n/a	n/a
6	ARID3A	chr2:33175022-33175445	K562	blood:	n/a	n/a
7	ARID3A	chr2:32816899-32817528	K562	blood:	n/a	n/a
8	ARID3A	chr2:33171330-33171675	K562	blood:	n/a	n/a
9	ARID3A	chr2:33185346-33186670	K562	blood:	n/a	n/a
10	ARID3A	chr2:33285574-33285673	K562	blood:	n/a	n/a
11	ARID3A	chr2:33058909-33059022	K562	blood:	n/a	n/a
12	ARID3A	chr2:33119076-33119529	K562	blood:	n/a	n/a
13	ARID3A	chr2:33248405-33248594	HepG2	liver:	n/a	n/a
14	ARID3A	chr2:32678784-32679113	HepG2	liver:	n/a	n/a
15	ARID3A	chr2:32857326-32857639	K562	blood:	n/a	n/a
16	ARID3A	chr2:33287152-33287157	K562	blood:	n/a	n/a
17	ARID3A	chr2:33226994-33227246	HepG2	liver:	n/a	n/a
18	ARID3A	chr2:33181117-33181278	K562	blood:	n/a	n/a
19	ARID3A	chr2:33190665-33190848	K562	blood:	n/a	n/a
20	ARID3A	chr2:33258718-33258942	K562	blood:	n/a	n/a
21	ARID3A	chr2:32815131-32815135	K562	blood:	n/a	n/a
22	ARID3A	chr2:32946460-32946757	K562	blood:	n/a	n/a
23	ARID3A	chr2:32993323-32994137	K562	blood:	n/a	n/a
24	ARID3A	chr2:32858261-32858418	K562	blood:	n/a	n/a
25	ARID3A	chr2:33030069-33030809	HepG2	liver:	n/a	n/a
26	ARID3A	chr2:33289402-33289458	K562	blood:	n/a	n/a
27	ARID3A	chr2:33141143-33141554	HepG2	liver:	n/a	n/a
28	ARID3A	chr2:33244964-33245164	K562	blood:	n/a	n/a
29	ATF1	chr2:33296225-33296352	K562	blood:	n/a	n/a
30	ATF1	chr2:32993451-32993906	K562	blood:	n/a	n/a
31	ATF1	chr2:32836490-32836739	K562	blood:	n/a	n/a
32	ATF1	chr2:33171355-33172083	K562	blood:	n/a	chr2:33171922-33171936
33	ATF1	chr2:32661286-32661606	K562	blood:	n/a	n/a
34	ATF1	chr2:33058786-33059089	K562	blood:	n/a	n/a
35	ATF1	chr2:33248183-33248687	K562	blood:	n/a	n/a
36	ATF1	chr2:33185637-33186428	K562	blood:	n/a	n/a
37	ATF1	chr2:33246713-33247139	K562	blood:	n/a	n/a
38	ATF1	chr2:33062116-33062407	K562	blood:	n/a	n/a
39	ATF1	chr2:32872262-32872524	K562	blood:	n/a	n/a
40	ATF1	chr2:32817084-32817526	K562	blood:	n/a	n/a
41	ATF1	chr2:33119131-33119514	K562	blood:	n/a	n/a
42	ATF1	chr2:33090668-33091073	K562	blood:	n/a	n/a
43	ATF1	chr2:33244969-33245176	K562	blood:	n/a	n/a
44	ATF1	chr2:32946452-32946958	K562	blood:	n/a	n/a
45	ATF1	chr2:33294897-33295215	K562	blood:	n/a	n/a
46	ATF1	chr2:32710011-32710380	K562	blood:	n/a	n/a
47	ATF1	chr2:33175066-33175451	K562	blood:	n/a	n/a
48	ATF1	chr2:33158402-33158866	K562	blood:	n/a	n/a
49	ATF1	chr2:32783652-32783878	K562	blood:	n/a	n/a
50	ATF2	chr2:32853000-32853469	H1-hESC	embryonic stem cell:	n/a	n/a

(count:3847 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:32757307-32757357	BJ	skin:	n/a
2	chr2:33157742-33157792	NHDF-neo	bronchial:	n/a
3	chr2:33057712-33057762	K562	blood:	n/a
4	chr2:32849433-32849483	MCF-7	breast:	n/a
5	chr2:32757307-32757357	BJ	skin:	n/a
6	chr2:33157742-33157792	NHDF-neo	bronchial:	n/a
7	chr2:33057712-33057762	K562	blood:	n/a
8	chr2:32849433-32849483	MCF-7	breast:	n/a
9	chr2:32853008-32853058	T-47D	breast:	n/a
10	chr2:33295138-33295188	BE2_C	brain:	n/a
11	chr2:32852760-32852810	SK-N-MC	brain:	n/a
12	chr2:32853008-32853058	Hepatocyte	liver:	n/a
13	chr2:32853008-32853058	Hela-S3	cervix:	n/a
14	chr2:33111675-33111725	HEK293	kidney:	embryo
15	chr2:33110986-33111036	AG09309	skin:	n/a
16	chr2:32853039-32853089	MCF10A-Er-Src	breast:	n/a
17	chr2:33245988-33246038	HRCEpiC	kidney:	n/a
18	chr2:33171334-33171384	HIPEpiC	eye:	n/a
19	chr2:33311428-33311478	HepG2	liver:	n/a
20	chr2:33172444-33172494	HCPEpiC	choroid plexus:	n/a
21	chr2:33049885-33049935	SK-N-SH_RA	brain:	n/a
22	chr2:33106489-33106539	NH-A	brain:	n/a
23	chr2:33282816-33282866	NHDF-neo	bronchial:	n/a
24	chr2:33249103-33249153	HIPEpiC	eye:	n/a
25	chr2:33282816-33282866	GM12892	blood:	n/a
26	chr2:33151749-33151799	SAEC	small airway:	n/a
27	chr2:32855761-32855811	SK-N-SH	brain:	n/a
28	chr2:32852760-32852810	HEK293	kidney:	embryo
29	chr2:33317174-33317224	HMEC	breast:	n/a
30	chr2:32852456-32852506	BE2_C	brain:	n/a
31	chr2:33057712-33057762	AoSMC	blood vessel:	n/a
32	chr2:32853064-32853114	CMK	blood:	n/a
33	chr2:33110986-33111036	AG10803	skin:	n/a
34	chr2:33172905-33172955	HEEpiC	esophagus:	n/a
35	chr2:33249103-33249153	AG10803	skin:	n/a
36	chr2:33282816-33282866	PFSK-1	brain:	n/a
37	chr2:32852456-32852506	PFSK-1	brain:	n/a
38	chr2:33171334-33171384	GM12892	blood:	n/a
39	chr2:33172442-33172492	HAEpiC	amniotic membrane:	n/a
40	chr2:32852965-32853015	GM19239	blood:	n/a
41	chr2:32855761-32855811	SAEC	small airway:	n/a
42	chr2:33111675-33111725	RPTEC	kidney:	n/a
43	chr2:33107130-33107180	ProgFib	skin:	n/a
44	chr2:32855761-32855811	Jurkat	blood:	n/a
45	chr2:33110986-33111036	IMR90	lung:	fetal
46	chr2:33110871-33110921	SAEC	small airway:	n/a
47	chr2:33050369-33050419	BE2_C	brain:	n/a
48	chr2:33151749-33151799	MCF10A-Er-Src	breast:	n/a
49	chr2:33317174-33317224	AG09309	skin:	n/a
50	chr2:33240386-33240436	Hepatocyte	liver:	n/a

(count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Distal block	Cell Line	Cell type
1	chr2:33170290..33173371-chr2:33177841..33180797,5	MCF-7	breast:
2	chr2:32581170..32583606-chr2:32648522..32652057,4	MCF-7	breast:
3	chr2:32852303..32855148-chr2:33171500..33174324,2	MCF-7	breast:
4	chr2:32834411..32836781-chr2:32841524..32843464,2	MCF-7	breast:
5	chr2:32992344..32996363-chr2:33170920..33175080,5	K562	blood:
6	chr2:33295214..33297626-chr2:33299821..33301525,2	K562	blood:
7	chr2:32819157..32822664-chr2:32823395..32826868,4	K562	blood:
8	chr2:32827862..32829932-chr2:32841650..32843920,2	K562	blood:
9	chr2:32834411..32836781-chr2:32841524..32843464,2	MCF-7	breast:
10	chr2:33294735..33295846-chr2:33311218..33312090,8	MCF-7	breast:
11	chr2:33060919..33062903-chr2:33067593..33069327,2	K562	blood:
12	chr2:32728272..32730412-chr2:32730528..32733099,2	MCF-7	breast:
13	chr2:32998266..32999836-chr2:33000625..33002335,2	MCF-7	breast:
14	chr1:22780784..22781462-chr2:33294993..33295833,2	MCF-7	breast:
15	chr2:32779397..32781128-chr2:32840287..32842152,2	MCF-7	breast:
16	chr2:32841530..32844317-chr2:32847041..32849400,4	K562	blood:
17	chr2:33060831..33063704-chr2:33171099..33173592,2	MCF-7	breast:
18	chr2:33243925..33248898-chr2:33248947..33251524,5	K562	blood:
19	chr2:32650702..32653420-chr2:32683411..32685638,2	MCF-7	breast:
20	chr2:32655316..32658127-chr2:32662690..32665444,3	K562	blood:
21	chr2:33295016..33295604-chr2:33594643..33595514,3	MCF-7	breast:
22	chr2:32857206..32858906-chr2:32863205..32865583,2	K562	blood:
23	chr2:33155767..33157541-chr2:33161643..33163484,2	MCF-7	breast:
24	chr2:33047440..33049654-chr2:33054082..33055725,2	K562	blood:
25	chr2:33275820..33277562-chr2:33294369..33297185,2	MCF-7	breast:
26	chr2:32957957..32960814-chr2:32966256..32968769,2	K562	blood:
27	chr2:32913593..32916117-chr2:32917389..32919643,3	K562	blood:
28	chr2:33283268..33285451-chr2:33289222..33291500,2	K562	blood:
29	chr2:32889860..32891982-chr2:32898606..32900194,2	MCF-7	breast:
30	chr2:32773195..32775185-chr2:33170524..33173451,2	K562	blood:
31	chr2:32795969..32798734-chr2:32800957..32802571,2	MCF-7	breast:
32	chr2:32642567..32646471-chr2:32648839..32652679,3	K562	blood:
33	chr2:33007786..33010294-chr2:33011581..33014848,3	K562	blood:
34	chr2:33106423..33109334-chr2:33113009..33115056,2	MCF-7	breast:
35	chr2:33256831..33258647-chr2:33264636..33267150,2	K562	blood:
36	chr2:32983985..32985652-chr2:32989315..32991990,2	K562	blood:
37	chr2:33028721..33031783-chr2:33036094..33038585,3	MCF-7	breast:
38	chr2:33289501..33292346-chr2:33293436..33295716,3	MCF-7	breast:
39	chr2:33007786..33010294-chr2:33011581..33014848,3	K562	blood:
40	chr2:33019705..33021569-chr2:33023951..33026506,2	K562	blood:
41	chr2:32655316..32658127-chr2:32662690..32665444,3	K562	blood:
42	chr2:33281466..33284233-chr2:33284754..33287508,2	K562	blood:
43	chr2:33236766..33239926-chr2:33243228..33245215,3	MCF-7	breast:
44	chr2:33170502..33173582-chr2:33291502..33297782,11	MCF-7	breast:
45	chr2:33047456..33049572-chr2:33059264..33061009,2	K562	blood:
46	chr2:33076071..33078372-chr2:33169082..33171012,2	K562	blood:
47	chr2:32814146..32816317-chr2:32853032..32854719,2	K562	blood:
48	chr2:33179244..33180950-chr2:33187540..33189533,2	K562	blood:
49	chr2:33009728..33011942-chr2:33013332..33015811,2	K562	blood:
50	chr2:33158411..33160242-chr2:33161103..33163935,3	K562	blood:

(count:107 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC27-1	chr2:33152194-33152413	XLOC_001418
2	lnc-TTC27-1	chr2:33050510-33050577	XLOC_001418
3	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
4	lnc-TTC27-1	chr2:33162095-33162208	NONHSAT070003
5	lnc-TTC27-1	chr2:33066862-33066968	XLOC_001418
6	lnc-TTC27-1	chr2:33050394-33050577	XLOC_001418
7	lnc-TTC27-1	chr2:33153303-33153472	XLOC_001418
8	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
9	lnc-TTC27-1	chr2:33150420-33151756	NONHSAT069999
10	lnc-TTC27-1	chr2:33065837-33065996	XLOC_001418
11	lnc-TTC27-1	chr2:33107994-33108117	XLOC_001418
12	lnc-TTC27-1	chr2:33107868-33107893	XLOC_001418
13	lnc-TTC27-1	chr2:33062378-33062472	XLOC_001418
14	lnc-TTC27-1	chr2:33121992-33122046	XLOC_001418
15	lnc-TTC27-1	chr2:33154006-33154206	XLOC_001418
16	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
17	lnc-TTC27-1	chr2:33050496-33050577	XLOC_001418
18	lnc-TTC27-1	chr2:33152179-33152413	NONHSAT070003
19	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
20	lnc-TTC27-1	chr2:33107994-33108117	ENSG00000230876
21	lnc-TTC27-1	chr2:33061701-33061781	XLOC_001418
22	lnc-TTC27-1	chr2:33121992-33122047	XLOC_001418
23	lnc-TTC27-1	chr2:33062378-33062472	XLOC_001418
24	lnc-TTC27-1	chr2:33153303-33153472	NONHSAT070003
25	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
26	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
27	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
28	lnc-TTC27-1	chr2:33153303-33153472	NONHSAT070004
29	lnc-TTC27-1	chr2:33066080-33066300	XLOC_001418
30	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
31	lnc-TTC27-1	chr2:33123607-33123709	ENSG00000230876
32	lnc-TTC27-1	chr2:33153303-33153472	XLOC_001418
33	lnc-TTC27-1	chr2:33123607-33123709	NONHSAT069999
34	lnc-BIRC6-1	chr2:33003924-33005264	NONHSAT069986
35	lnc-TTC27-1	chr2:33066081-33066300	ENSG00000230876
36	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
37	lnc-BIRC6-1	chr2:32904014-32904081	NONHSAT069986
38	lnc-TTC27-1	chr2:33170294-33171202	NONHSAT070004
39	lnc-TTC27-1	chr2:33153099-33153190	XLOC_001418
40	lnc-BIRC6-2	chr2:33023798-33024704	ucscGeneNc_uc002ror_2
41	lnc-TTC27-1	chr2:33065837-33066300	XLOC_001418
42	lnc-BIRC6-1	chr2:32961372-32961397	NONHSAT069988
43	lnc-TTC27-1	chr2:33150420-33151589	XLOC_001418
44	lnc-TTC27-1	chr2:33062378-33062472	XLOC_001418
45	lnc-BIRC6-2	chr2:33006807-33006976	ucscGeneNc_uc002ror_2
46	lnc-TTC27-1	chr2:33153303-33153472	XLOC_001418
47	lnc-TTC27-1	chr2:33107766-33107893	NONHSAT069999
48	lnc-TTC27-1	chr2:33170294-33170326	XLOC_001418
49	lnc-TTC27-1	chr2:33153132-33153190	XLOC_001418
50	lnc-TTC27-1	chr2:33152194-33152413	XLOC_001418

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

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

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

Variant related genes	Relation type
MIR558	TF binding region
MIR4765	TF binding region
ENSG00000252502	TF binding region
ENSG00000223951	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
MIR4765	CpG island
ENSG00000252502	CpG island
ENSG00000223951	CpG island
LTBP1	CpG island
LINC00486	CpG island
ENSG00000236854	CpG island
TTC27	CpG island
BIRC6	CpG island
ENSG00000206951	CpG island
ENSG00000230876	chromatin interactions
ENSG00000272716	chromatin interactions
ENSG00000115760	chromatin interactions
ENSG00000265057	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000049323	chromatin interactions
ENSG00000236854	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000018699	chromatin interactions
ENSG00000206951	chromatin interactions
ENSG00000223951	chromatin interactions
ENSG00000185608	chromatin interactions
ENSG00000152683	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000169764	chromatin interactions
ENSG00000267416	chromatin interactions
REST	miRNA target sites
CCDC28A	miRNA target sites
HMGA2	miRNA target sites
MRPL19	miRNA target sites
CCDC165	miRNA target sites
RFX1	miRNA target sites
GATAD2B	miRNA target sites
FOXG1	miRNA target sites
POGK	miRNA target sites
RFFL	miRNA target sites
MBTD1	miRNA target sites
CCDC117	miRNA target sites
CCDC19	miRNA target sites
REV3L	miRNA target sites
POGLUT1	miRNA target sites
RET	miRNA target sites
POGZ	miRNA target sites
MBNL3	miRNA target sites

Extended variants
information (count: 27649 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:27649 , 50 per page) page: 1 2 3 4 5 6 7 ... 553

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142449839	chr2:32640777-32640778	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144578684	chr2:32640782-32640783	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs377574138	chr2:32640885-32640886	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372062330	chr2:32640900-32640901	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200828084	chr2:32640902-32640903	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540348519	chr2:32640903-32640904	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150163773	chr2:32640933-32640934	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371105102	chr2:32640936-32640937	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138666943	chr2:32641022-32641023	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34996177	chr2:32641040-32641041	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144184005	chr2:32641041-32641042	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375404908	chr2:32641062-32641063	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201122092	chr2:32641065-32641066	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs370187486	chr2:32641083-32641084	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542775800	chr2:32641135-32641136	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562418075	chr2:32641203-32641204	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368940343	chr2:32641220-32641221	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372275395	chr2:32641243-32641244	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375232997	chr2:32641276-32641277	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs13024785	chr2:32641278-32641279	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs565577673	chr2:32641282-32641283	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs116759811	chr2:32641331-32641332	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547675125	chr2:32641337-32641338	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371630723	chr2:32641349-32641350	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530210760	chr2:32641405-32641406	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550268954	chr2:32641449-32641450	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559298870	chr2:32641484-32641485	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187251782	chr2:32641532-32641533	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539030487	chr2:32641533-32641534	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141272308	chr2:32641597-32641598	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs145053493	chr2:32641618-32641619	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192086526	chr2:32641678-32641679	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554089098	chr2:32641693-32641694	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529934436	chr2:32641698-32641699	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535284403	chr2:32641717-32641718	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573905005	chr2:32641729-32641730	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs78155557	chr2:32641806-32641807	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs176406	chr2:32641812-32641813	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs556235032	chr2:32641822-32641823	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201513090	chr2:32641823-32641824	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200682776	chr2:32641839-32641840	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs149050716	chr2:32641842-32641843	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375087657	chr2:32641844-32641845	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375518458	chr2:32641847-32641848	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs151311118	chr2:32641862-32641863	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368827437	chr2:32641870-32641871	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545084265	chr2:32641896-32641897	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs140543597	chr2:32641898-32641899	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571691807	chr2:32641938-32641939	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541353342	chr2:32642029-32642030	Strong transcription Weak 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:12827 , 50 per page) page: 1 2 3 4 5 6 7 ... 257

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32583600-32653200	Weak transcription	Gastric	stomach
2	chr2:32583800-32649000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:32602000-32653000	Weak transcription	Stomach Mucosa	stomach
4	chr2:32605400-32652800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:32607200-32650600	Weak transcription	Fetal Heart	heart
6	chr2:32613800-32645400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:32617800-32650800	Weak transcription	Right Ventricle	heart
8	chr2:32618000-32650800	Weak transcription	Psoas Muscle	Psoas
9	chr2:32618600-32644800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:32620200-32650600	Weak transcription	Aorta	Aorta
11	chr2:32621000-32669800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:32621200-32664600	Weak transcription	Fetal Brain Male	brain
13	chr2:32621600-32693400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:32622600-32650800	Weak transcription	Esophagus	oesophagus
15	chr2:32626000-32645000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:32626200-32644200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:32626200-32647000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:32628800-32643400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:32630000-32653000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:32630600-32650800	Weak transcription	Right Atrium	heart
21	chr2:32632000-32642600	Weak transcription	Fetal Kidney	kidney
22	chr2:32635000-32644000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:32635800-32641200	Strong transcription	Lung	lung
24	chr2:32636200-32643400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:32636200-32644200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:32636800-32642800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:32636800-32643200	Strong transcription	A549	lung
28	chr2:32637000-32650800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:32637200-32649600	Weak transcription	Pancreas	Pancrea
30	chr2:32638200-32644000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:32638200-32644800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:32638600-32640800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:32638600-32644200	Strong transcription	Fetal Thymus	thymus
34	chr2:32638600-32644800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:32638800-32640800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:32638800-32641400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:32638800-32642800	Strong transcription	Adipose Nuclei	Adipose
38	chr2:32638800-32642800	Strong transcription	Placenta	Placenta
39	chr2:32639200-32643000	Strong transcription	Primary T cells from cord blood	blood
40	chr2:32639200-32643200	Strong transcription	Fetal Lung	lung
41	chr2:32639200-32644000	Strong transcription	Fetal Stomach	stomach
42	chr2:32639200-32644200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:32639200-32644200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr2:32639400-32641400	Strong transcription	Fetal Muscle Leg	muscle
45	chr2:32639400-32643800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:32639400-32643800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr2:32639400-32644400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:32639400-32644800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:32639400-32645200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:32639600-32641200	Strong transcription	Placenta Amnion	Placenta Amnion

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