Variant report

Variant	rs17886908
Chromosome Location	chr1:92196655-92196656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr1:92196345-92196677	K562	blood:	n/a	n/a
2	ZNF384	chr1:92196594-92196660	K562	blood:	n/a	n/a
3	FOS	chr1:92196350-92196656	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr1:92196212-92196734	MCF10A-Er-Src	breast:	n/a	chr1:92196324-92196332
5	TCF7L2	chr1:92196359-92196890	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:92194683-92199275	HepG2	liver:	n/a	n/a
7	MXI1	chr1:92196376-92196701	Hela-S3	cervix:	n/a	n/a
8	RCOR1	chr1:92196293-92197280	K562	blood:	n/a	n/a
9	EP300	chr1:92196293-92196721	Hela-S3	cervix:	n/a	n/a
10	MYC	chr1:92196326-92197851	MCF10A-Er-Src	breast:	n/a	n/a
11	TBP	chr1:92196470-92196696	K562	blood:	n/a	n/a
12	MAX	chr1:92196299-92196702	K562	blood:	n/a	n/a
13	GTF2F1	chr1:92196331-92196704	Hela-S3	cervix:	n/a	n/a
14	MAX	chr1:92196341-92197132	K562	blood:	n/a	n/a
15	E2F4	chr1:92196316-92196712	MCF10A-Er-Src	breast:	n/a	n/a
16	RCOR1	chr1:92196321-92196705	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr1:92196284-92196984	IMR90	lung:	n/a	chr1:92196831-92196844
18	TEAD4	chr1:92196339-92196720	K562	blood:	n/a	n/a
19	MYC	chr1:92196248-92196755	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr1:92196322-92196665	MCF10A-Er-Src	breast:	n/a	n/a
21	RAD21	chr1:92196300-92196743	Hela-S3	cervix:	n/a	n/a
22	ZC3H11A	chr1:92196582-92196776	K562	blood:	n/a	n/a
23	EP300	chr1:92196334-92197283	K562	blood:	n/a	n/a
24	CEBPB	chr1:92196229-92196716	K562	blood:	n/a	n/a
25	JUN	chr1:92195766-92199113	K562	blood:	n/a	chr1:92197036-92197047 chr1:92198242-92198252 chr1:92198242-92198252 chr1:92197511-92197520 chr1:92198241-92198253 chr1:92198242-92198252 chr1:92198244-92198255 chr1:92198242-92198251
26	CEBPB	chr1:92196245-92196873	Hela-S3	cervix:	n/a	chr1:92196831-92196844
27	STAT3	chr1:92196291-92196799	MCF10A-Er-Src	breast:	n/a	chr1:92196324-92196332
28	FOS	chr1:92196303-92196703	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr1:92196301-92196761	MCF10A-Er-Src	breast:	n/a	n/a
30	CEBPB	chr1:92196235-92196716	A549	lung:	n/a	n/a
31	USF2	chr1:92196387-92196689	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr1:92196296-92197209	K562	blood:	n/a	chr1:92196831-92196844
33	MYC	chr1:92196304-92197272	K562	blood:	n/a	n/a
34	MYC	chr1:92196290-92197278	K562	blood:	n/a	n/a
35	BHLHE40	chr1:92196306-92198601	K562	blood:	n/a	n/a
36	JUND	chr1:92196243-92197254	K562	blood:	n/a	chr1:92197036-92197047
37	CHD2	chr1:92196407-92196674	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr1:92196574-92196683	MCF10A-Er-Src	breast:	n/a	n/a
39	MAX	chr1:92196316-92196790	Hela-S3	cervix:	n/a	n/a
40	SMC3	chr1:92196312-92196738	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:92195746..92200158-chr1:92212228..92214643,4	K562	blood:
2	chr1:92196121..92198991-chr1:92207192..92209304,2	MCF-7	breast:
3	chr1:92177009..92179682-chr1:92195748..92197642,2	K562	blood:
4	chr1:92186351..92189237-chr1:92195630..92198229,2	K562	blood:
5	chr1:92181357..92183863-chr1:92196120..92197770,2	K562	blood:
6	chr1:92194536..92198402-chr1:92243329..92245903,3	K562	blood:
7	chr1:92162441..92164446-chr1:92195933..92198118,2	K562	blood:
8	chr1:92170602..92173339-chr1:92193646..92196655,3	K562	blood:

Variant related genes	Relation type
TGFBR3	TF binding region
ENSG00000069702	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11466579	0.85[EUR][1000 genomes]
rs11582136	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs55996125	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv528991	chr1:92191534-92198162	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92153000-92197000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:92165800-92196800	Weak transcription	Small Intestine	intestine
3	chr1:92171000-92196800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:92171200-92196800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:92172800-92197000	Weak transcription	Colonic Mucosa	Colon
6	chr1:92173200-92202400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:92173600-92197800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:92185600-92196800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:92185800-92196800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:92185800-92196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:92185800-92196800	Weak transcription	Pancreas	Pancrea
12	chr1:92185800-92197600	Weak transcription	Fetal Intestine Small	intestine
13	chr1:92186000-92196800	Weak transcription	Gastric	stomach
14	chr1:92187200-92197000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:92189200-92202200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:92190600-92201400	Genic enhancers	NHDF-Ad	bronchial
17	chr1:92191400-92198400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:92191800-92204000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:92192000-92196800	Weak transcription	Brain Anterior Caudate	brain
20	chr1:92192200-92196800	Weak transcription	Psoas Muscle	Psoas
21	chr1:92192200-92196800	Weak transcription	HUVEC	blood vessel
22	chr1:92192600-92197600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:92192600-92200600	Genic enhancers	Fetal Muscle Leg	muscle
24	chr1:92193000-92202400	Weak transcription	Aorta	Aorta
25	chr1:92193600-92200600	Strong transcription	HepG2	liver
26	chr1:92194400-92196800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:92194400-92201000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:92194600-92198800	Genic enhancers	Fetal Lung	lung
29	chr1:92195000-92197200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr1:92195000-92199400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:92195000-92199400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:92195200-92197200	Enhancers	GM12878-XiMat	blood
33	chr1:92195200-92197800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr1:92195200-92198200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr1:92195200-92198400	Enhancers	Right Ventricle	heart
36	chr1:92195400-92196800	Enhancers	K562	blood
37	chr1:92195400-92198000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:92195400-92198400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr1:92195400-92198600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr1:92195400-92198800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr1:92195600-92196800	Weak transcription	Esophagus	oesophagus
42	chr1:92195600-92197000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:92195600-92197200	Weak transcription	Fetal Kidney	kidney
44	chr1:92195600-92197600	Enhancers	Hela-S3	cervix
45	chr1:92195600-92198000	Enhancers	Primary T cells from cord blood	blood
46	chr1:92195600-92198400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:92195600-92198600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:92195600-92199200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:92195600-92199200	Enhancers	Fetal Thymus	thymus
50	chr1:92195800-92196800	Weak transcription	Ovary	ovary

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