Variant report

Variant	nsv1067700
Chromosome Location	chr2:32677714-33257514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5340)
CpG islands
(count:3482)
Chromatin interactive
region (count:382)
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	chr2:33119076-33119529	K562	blood:	n/a	n/a
2	ARID3A	chr2:33030069-33030809	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:33226994-33227246	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:32852895-32853266	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:32946460-32946757	K562	blood:	n/a	n/a
6	ARID3A	chr2:32815131-32815135	K562	blood:	n/a	n/a
7	ARID3A	chr2:33002613-33003226	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:32816899-32817528	K562	blood:	n/a	n/a
9	ARID3A	chr2:33247797-33249376	K562	blood:	n/a	chr2:33248889-33248905
10	ARID3A	chr2:32704957-32705557	K562	blood:	n/a	n/a
11	ARID3A	chr2:33185346-33186670	K562	blood:	n/a	n/a
12	ARID3A	chr2:32858261-32858418	K562	blood:	n/a	n/a
13	ARID3A	chr2:33190665-33190848	K562	blood:	n/a	n/a
14	ARID3A	chr2:33181117-33181278	K562	blood:	n/a	n/a
15	ARID3A	chr2:33248405-33248594	HepG2	liver:	n/a	n/a
16	ARID3A	chr2:33058909-33059022	K562	blood:	n/a	n/a
17	ARID3A	chr2:33171330-33171675	K562	blood:	n/a	n/a
18	ARID3A	chr2:33141143-33141554	HepG2	liver:	n/a	n/a
19	ARID3A	chr2:33244964-33245164	K562	blood:	n/a	n/a
20	ARID3A	chr2:32993323-32994137	K562	blood:	n/a	n/a
21	ARID3A	chr2:33175022-33175445	K562	blood:	n/a	n/a
22	ARID3A	chr2:32857326-32857639	K562	blood:	n/a	n/a
23	ARID3A	chr2:32678784-32679113	HepG2	liver:	n/a	n/a
24	ATF1	chr2:33244969-33245176	K562	blood:	n/a	n/a
25	ATF1	chr2:32836490-32836739	K562	blood:	n/a	n/a
26	ATF1	chr2:33062116-33062407	K562	blood:	n/a	n/a
27	ATF1	chr2:33248183-33248687	K562	blood:	n/a	n/a
28	ATF1	chr2:33171355-33172083	K562	blood:	n/a	chr2:33171922-33171936
29	ATF1	chr2:32783652-32783878	K562	blood:	n/a	n/a
30	ATF1	chr2:32710011-32710380	K562	blood:	n/a	n/a
31	ATF1	chr2:33158402-33158866	K562	blood:	n/a	n/a
32	ATF1	chr2:33175066-33175451	K562	blood:	n/a	n/a
33	ATF1	chr2:33246713-33247139	K562	blood:	n/a	n/a
34	ATF1	chr2:32946452-32946958	K562	blood:	n/a	n/a
35	ATF1	chr2:32872262-32872524	K562	blood:	n/a	n/a
36	ATF1	chr2:32993451-32993906	K562	blood:	n/a	n/a
37	ATF1	chr2:32817084-32817526	K562	blood:	n/a	n/a
38	ATF1	chr2:33185637-33186428	K562	blood:	n/a	n/a
39	ATF1	chr2:33090668-33091073	K562	blood:	n/a	n/a
40	ATF1	chr2:33119131-33119514	K562	blood:	n/a	n/a
41	ATF1	chr2:33058786-33059089	K562	blood:	n/a	n/a
42	ATF2	chr2:32940244-32941080	GM12878	blood:	n/a	n/a
43	ATF2	chr2:33136004-33136429	GM12878	blood:	n/a	n/a
44	ATF2	chr2:32957996-32958541	GM12878	blood:	n/a	n/a
45	ATF2	chr2:32852916-32853520	GM12878	blood:	n/a	n/a
46	ATF2	chr2:32852661-32853344	H1-hESC	embryonic stem cell:	n/a	n/a
47	ATF2	chr2:32853000-32853469	H1-hESC	embryonic stem cell:	n/a	n/a
48	ATF2	chr2:33151767-33152181	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF2	chr2:32968457-32969077	GM12878	blood:	n/a	n/a
50	ATF2	chr2:32940218-32941123	GM12878	blood:	n/a	n/a

(count:3482 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:32852760-32852810	SKMC	muscle:	n/a
2	chr2:32849433-32849483	LNCaP	prostate:	n/a
3	chr2:33157742-33157792	HCT-116	colon:	n/a
4	chr2:33171699-33171749	NHBE	bronchial:	n/a
5	chr2:32852456-32852506	HL-60	blood:	n/a
6	chr2:32852760-32852810	SKMC	muscle:	n/a
7	chr2:32849433-32849483	LNCaP	prostate:	n/a
8	chr2:33157742-33157792	HCT-116	colon:	n/a
9	chr2:33171699-33171749	NHBE	bronchial:	n/a
10	chr2:32852456-32852506	HL-60	blood:	n/a
11	chr2:33245988-33246038	HCM	heart:	n/a
12	chr2:32853039-32853089	NT2-D1	testis:	n/a
13	chr2:33110871-33110921	U87	brain:	n/a
14	chr2:33107130-33107180	NHDF-neo	bronchial:	n/a
15	chr2:32853023-32853073	HCM	heart:	n/a
16	chr2:32853039-32853089	AG04450	lung:	fetal
17	chr2:33172444-33172494	NH-A	brain:	n/a
18	chr2:32855761-32855811	MCF10A-Er-Src	breast:	n/a
19	chr2:33171699-33171749	HNPCEpiC	eye:	n/a
20	chr2:33217152-33217202	LNCaP	prostate:	n/a
21	chr2:33217152-33217202	AG09309	skin:	n/a
22	chr2:32980137-32980187	AG09319	gingival:	n/a
23	chr2:33151749-33151799	Hela-S3	cervix:	n/a
24	chr2:32855761-32855811	AoSMC	blood vessel:	n/a
25	chr2:33057712-33057762	NT2-D1	testis:	n/a
26	chr2:32853069-32853119	PANC-1	pancreas:	n/a
27	chr2:32853033-32853083	H1-hESC	embryonic stem cell:	embryo
28	chr2:33050475-33050525	GM19239	blood:	n/a
29	chr2:33157742-33157792	SAEC	small airway:	n/a
30	chr2:33111822-33111872	HCF	heart:	n/a
31	chr2:32852828-32852878	H1-hESC	embryonic stem cell:	embryo
32	chr2:33175761-33175811	NHDF-neo	bronchial:	n/a
33	chr2:33152037-33152087	H1-hESC	embryonic stem cell:	embryo
34	chr2:33175761-33175811	AoSMC	blood vessel:	n/a
35	chr2:32872637-32872687	HEK293	kidney:	embryo
36	chr2:33217152-33217202	SKMC	muscle:	n/a
37	chr2:32980137-32980187	H1-hESC	embryonic stem cell:	embryo
38	chr2:32853023-32853073	GM12892	blood:	n/a
39	chr2:32905314-32905364	HMEC	breast:	n/a
40	chr2:33151557-33151607	HPAEpiC	pulmonary alveolar:	n/a
41	chr2:32849433-32849483	PFSK-1	brain:	n/a
42	chr2:32853023-32853073	HRPEpiC	eye:	n/a
43	chr2:33151749-33151799	HEEpiC	esophagus:	n/a
44	chr2:33169353-33169403	RPTEC	kidney:	n/a
45	chr2:33151749-33151799	Hepatocyte	liver:	n/a
46	chr2:33106489-33106539	HRCEpiC	kidney:	n/a
47	chr2:32853151-32853201	PrEC	prostate:	n/a
48	chr2:33171784-33171834	GM12892	blood:	n/a
49	chr2:32853033-32853083	Caco-2	colon:	n/a
50	chr2:33245988-33246038	HRPEpiC	eye:	n/a

(count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr2:33117941..33120214-chr2:33170718..33172464,2	K562	blood:
2	chr2:33119519..33122153-chr2:33124250..33125790,2	MCF-7	breast:
3	chr2:32947177..32949631-chr2:32971660..32974311,2	K562	blood:
4	chr2:32820979..32823929-chr2:32834423..32836797,2	K562	blood:
5	chr2:33165282..33167933-chr2:33169527..33171314,2	MCF-7	breast:
6	chr2:33247213..33249439-chr2:33251829..33254017,2	K562	blood:
7	chr2:33223694..33225595-chr2:33228734..33232052,3	MCF-7	breast:
8	chr2:32819157..32822664-chr2:32823395..32826868,4	K562	blood:
9	chr2:32779080..32779581-chr2:33311536..33312319,2	K562	blood:
10	chr2:32857791..32859629-chr2:32868617..32871118,2	K562	blood:
11	chr2:32997459..32998328-chr2:33597733..33598697,3	MCF-7	breast:
12	chr2:32934432..32936969-chr2:32940925..32942576,2	K562	blood:
13	chr2:33064042..33066202-chr2:33067636..33069864,2	K562	blood:
14	chr2:32853076..32853708-chr6:26157799..26158792,2	Hela-S3	cervix:
15	chr2:32812030..32814570-chr2:32816180..32819009,5	K562	blood:
16	chr2:33252081..33253790-chr2:33257469..33259112,2	MCF-7	breast:
17	chr2:32957957..32960814-chr2:32966256..32968769,2	K562	blood:
18	chr2:33177554..33179855-chr2:33244447..33246492,2	MCF-7	breast:
19	chr2:32889860..32891982-chr2:32898606..32900194,2	MCF-7	breast:
20	chr2:32766200..32767883-chr2:32771781..32774567,2	K562	blood:
21	chr2:33169785..33172664-chr2:33500827..33503324,2	K562	blood:
22	chr2:33169900..33173480-chr2:33234846..33238630,4	MCF-7	breast:
23	chr2:33193460..33194999-chr2:33195672..33198553,2	K562	blood:
24	chr2:33249062..33251241-chr2:33251681..33253687,2	MCF-7	breast:
25	chr2:33120235..33122609-chr2:33124113..33127663,3	K562	blood:
26	chr2:33252081..33253790-chr2:33257469..33259112,2	MCF-7	breast:
27	chr2:32851384..32854804-chr2:32857600..32861757,5	MCF-7	breast:
28	chr2:33175858..33177489-chr2:33179625..33181642,2	K562	blood:
29	chr2:33155767..33157541-chr2:33161643..33163484,2	MCF-7	breast:
30	chr2:32827771..32830524-chr2:32832345..32835314,2	MCF-7	breast:
31	chr2:33185971..33188810-chr2:33234978..33237289,2	MCF-7	breast:
32	chr2:32851621..32853687-chr2:32918748..32920972,2	MCF-7	breast:
33	chr2:32992163..32993853-chr2:33058871..33061110,2	K562	blood:
34	chr2:33236766..33239926-chr2:33243228..33245215,3	MCF-7	breast:
35	chr2:33070865..33072906-chr2:33075561..33077812,2	K562	blood:
36	chr2:32844980..32847933-chr2:32850537..32855123,4	MCF-7	breast:
37	chr2:33193460..33194999-chr2:33195672..33198553,2	K562	blood:
38	chr2:32650702..32653420-chr2:32683411..32685638,2	MCF-7	breast:
39	chr2:32736775..32738278-chr2:32740099..32741901,2	K562	blood:
40	chr2:33005029..33007920-chr2:33171660..33173627,3	MCF-7	breast:
41	chr2:33240217..33242128-chr2:33243629..33245365,2	K562	blood:
42	chr2:32857608..32859353-chr2:32861753..32864636,2	MCF-7	breast:
43	chr2:32955803..32958502-chr2:32961563..32963724,2	MCF-7	breast:
44	chr2:33070865..33072906-chr2:33075561..33077812,2	K562	blood:
45	chr2:32827771..32830524-chr2:32832345..32835314,2	MCF-7	breast:
46	chr2:32770330..32771989-chr2:32772579..32774228,2	MCF-7	breast:
47	chr2:33022760..33024459-chr2:33029393..33031824,3	MCF-7	breast:
48	chr2:32857206..32858906-chr2:32863205..32865583,2	K562	blood:
49	chr2:32815590..32817106-chr2:32823201..32825510,2	K562	blood:
50	chr2:32766200..32768668-chr2:32771192..32774567,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC27-1	chr2:33062378-33062472	XLOC_001418
2	lnc-TTC27-1	chr2:33107766-33107893	XLOC_001418
3	lnc-BIRC6-1	chr2:32961498-32961621	NONHSAT069987
4	lnc-TTC27-1	chr2:33066080-33066295	XLOC_001418
5	lnc-TTC27-1	chr2:33162095-33162270	XLOC_001418
6	lnc-BIRC6-1	chr2:32961270-32961397	NONHSAT069987
7	lnc-TTC27-1	chr2:33107994-33108117	XLOC_001418
8	lnc-TTC27-1	chr2:33153303-33153472	NONHSAT070004
9	lnc-TTC27-1	chr2:33107994-33108117	XLOC_001418
10	lnc-TTC27-1	chr2:33107766-33107893	NONHSAT069999
11	lnc-BIRC6-1	chr2:32977111-32977213	NONHSAT069987
12	lnc-TTC27-1	chr2:33121992-33122046	XLOC_001418
13	lnc-TTC27-1	chr2:33162095-33162208	NONHSAT070003
14	lnc-TTC27-1	chr2:33061597-33061801	XLOC_001418
15	lnc-TTC27-1	chr2:33061641-33061801	XLOC_001418
16	lnc-BIRC6-2	chr2:33006603-33006694	NONHSAT069989
17	lnc-TTC27-1	chr2:33170294-33170326	XLOC_001418
18	lnc-TTC27-1	chr2:33066080-33066300	XLOC_001418
19	lnc-BIRC6-1	chr2:32980634-32980694	NONHSAT069987
20	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
21	lnc-TTC27-1	chr2:33127130-33127190	ENSG00000230876
22	lnc-TTC27-1	chr2:33153303-33153472	XLOC_001418
23	lnc-TTC27-1	chr2:33066080-33066300	XLOC_001418
24	lnc-TTC27-1	chr2:33153099-33153190	NONHSAT070004
25	lnc-TTC27-1	chr2:33062378-33062472	XLOC_001418
26	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
27	lnc-BIRC6-1	chr2:32975496-32975551	NONHSAT069987
28	lnc-TTC27-1	chr2:33107766-33107893	XLOC_001418
29	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
30	lnc-TTC27-1	chr2:33150420-33151589	XLOC_001418
31	lnc-TTC27-1	chr2:33170294-33171202	NONHSAT070004
32	lnc-BIRC6-2	chr2:33005698-33005917	NONHSAT069989
33	lnc-BIRC6-1	chr2:32980634-32980694	NONHSAT069986
34	lnc-BIRC6-2	chr2:33005698-33005917	ucscGeneNc_uc002ror_2
35	lnc-TTC27-1	chr2:33107868-33107893	XLOC_001418
36	lnc-TTC27-1	chr2:33153099-33153190	XLOC_001418
37	lnc-TTC27-1	chr2:33066080-33066300	XLOC_001418
38	lnc-TTC27-1	chr2:33153303-33153472	NONHSAT070002
39	lnc-TTC27-1	chr2:33066862-33066968	XLOC_001418
40	lnc-TTC27-1	chr2:33107994-33108117	XLOC_001418
41	lnc-TTC27-1	chr2:33065837-33065996	XLOC_001418
42	lnc-BIRC6-1	chr2:32980634-32980694	NONHSAT069988
43	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
44	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
45	lnc-TTC27-1	chr2:33065837-33065996	XLOC_001418
46	lnc-BIRC6-1	chr2:32919585-32919804	NONHSAT069987
47	lnc-TTC27-1	chr2:33150420-33151760	XLOC_001418
48	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
49	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
50	lnc-BIRC6-1	chr2:32977111-32977213	NONHSAT069986

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-34a-5p	chr2:32843220-32843241
2	BIRC6	hsa-miR-218-5p	chr2:32843010-32843017
3	BIRC6	hsa-let-7b-5p	chr2:32843468-32843490
4	BIRC6	hsa-let-7a-5p	chr2:32843237-32843260
5	BIRC6	hsa-miR-218-5p	chr2:32842996-32843017
6	BIRC6	hsa-let-7a-5p	chr2:32843468-32843490
7	BIRC6	hsa-let-7b-5p	chr2:32843237-32843260

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

Extended variants
information (count: 23109 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:23109 , 50 per page) page: 1 2 3 4 5 6 7 ... 463

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578189430	chr2:32677739-32677740	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570476190	chr2:32677848-32677849	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538551777	chr2:32677876-32677877	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556334726	chr2:32677886-32677887	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552006524	chr2:32677905-32677906	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12470580	chr2:32677941-32677942	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182843995	chr2:32677958-32677959	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554451161	chr2:32677971-32677972	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371865650	chr2:32677979-32677980	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200836678	chr2:32678012-32678013	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572713772	chr2:32678033-32678034	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543222692	chr2:32678038-32678039	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148203023	chr2:32678050-32678051	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528975831	chr2:32678079-32678080	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs141132187	chr2:32678090-32678091	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs578078408	chr2:32678139-32678140	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs10177302	chr2:32678262-32678263	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs76740580	chr2:32678292-32678293	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545049829	chr2:32678370-32678371	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560043777	chr2:32678388-32678389	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573451319	chr2:32678435-32678436	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542445396	chr2:32678475-32678476	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562112190	chr2:32678494-32678495	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs575590711	chr2:32678536-32678537	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35855038	chr2:32678540-32678541	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116690876	chr2:32678587-32678588	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544256427	chr2:32678616-32678617	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs564139512	chr2:32678623-32678624	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533201217	chr2:32678662-32678663	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546667438	chr2:32678702-32678703	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565998752	chr2:32678746-32678747	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376876819	chr2:32678782-32678783	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs114417101	chr2:32678822-32678823	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568130040	chr2:32678824-32678825	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs537152933	chr2:32678835-32678836	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377052006	chr2:32678856-32678857	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs187746900	chr2:32678869-32678870	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs143623178	chr2:32678878-32678879	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs139981025	chr2:32678891-32678892	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs552680323	chr2:32678895-32678896	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs35205055	chr2:32678904-32678905	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs150965967	chr2:32678938-32678939	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200937433	chr2:32678962-32678963	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374285943	chr2:32679007-32679008	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562460636	chr2:32679014-32679015	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370208043	chr2:32679019-32679020	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs555933859	chr2:32679025-32679026	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533089117	chr2:32679031-32679032	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200498391	chr2:32679039-32679040	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs202236297	chr2:32679051-32679052	Weak transcription Strong transcription	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:10693 , 50 per page) page: 1 2 3 4 5 6 7 ... 214

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32621600-32693400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:32651000-32689000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:32651000-32695000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:32653400-32693000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:32653400-32715400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:32653600-32687800	Weak transcription	Gastric	stomach
7	chr2:32653600-32688200	Weak transcription	Aorta	Aorta
8	chr2:32654400-32710600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:32657800-32680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:32662400-32688200	Weak transcription	Ovary	ovary
11	chr2:32665200-32693000	Weak transcription	Small Intestine	intestine
12	chr2:32666200-32687600	Weak transcription	Lung	lung
13	chr2:32667600-32688200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:32667600-32688200	Weak transcription	NHEK	skin
15	chr2:32667600-32688400	Weak transcription	Fetal Brain Male	brain
16	chr2:32668000-32687800	Weak transcription	Esophagus	oesophagus
17	chr2:32668000-32740200	Weak transcription	Psoas Muscle	Psoas
18	chr2:32668400-32688400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:32669000-32692400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:32669200-32688200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:32669200-32688200	Weak transcription	Right Ventricle	heart
22	chr2:32669200-32692200	Weak transcription	Brain Angular Gyrus	brain
23	chr2:32670000-32688200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:32671200-32688200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:32671600-32680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:32671600-32687200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:32671600-32689200	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:32671600-32689400	Weak transcription	Brain Substantia Nigra	brain
29	chr2:32671600-32710800	Weak transcription	Stomach Mucosa	stomach
30	chr2:32671800-32678200	Weak transcription	HUVEC	blood vessel
31	chr2:32671800-32679200	Weak transcription	A549	lung
32	chr2:32671800-32680200	Weak transcription	Fetal Stomach	stomach
33	chr2:32671800-32680400	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:32671800-32681400	Weak transcription	Osteobl	bone
35	chr2:32671800-32683800	Weak transcription	Fetal Intestine Small	intestine
36	chr2:32671800-32687800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:32671800-32687800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:32671800-32687800	Weak transcription	Thymus	Thymus
39	chr2:32671800-32688200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:32671800-32688200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:32671800-32688200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:32671800-32688200	Weak transcription	HMEC	breast
43	chr2:32671800-32688200	Weak transcription	HSMMtube	muscle
44	chr2:32671800-32688800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:32671800-32689400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:32671800-32689400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:32671800-32690600	Weak transcription	NHLF	lung
48	chr2:32671800-32692200	Weak transcription	Brain Anterior Caudate	brain
49	chr2:32671800-32692600	Weak transcription	Fetal Heart	heart
50	chr2:32673600-32677800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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