Variant report

Variant	rs218908
Chromosome Location	chr8:90741114-90741115
allele	A/C
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	CREB1	chr8:90741080-90741851	K562	blood:	n/a	n/a
2	YY1	chr8:90741084-90741653	GM12892	blood:	n/a	chr8:90741320-90741330 chr8:90741308-90741330 chr8:90741318-90741330
3	CEBPB	chr8:90741102-90741585	K562	blood:	n/a	chr8:90741231-90741240 chr8:90741231-90741242 chr8:90741229-90741242 chr8:90741229-90741240 chr8:90741229-90741242
4	MAX	chr8:90741009-90741678	K562	blood:	n/a	chr8:90741491-90741500
5	GATA1	chr8:90740790-90741746	PBDE	blood:	n/a	chr8:90741067-90741074 chr8:90741067-90741074 chr8:90741062-90741078 chr8:90741067-90741074
6	CEBPB	chr8:90741077-90741600	IMR90	lung:	n/a	chr8:90741231-90741240 chr8:90741231-90741242 chr8:90741229-90741242 chr8:90741229-90741240 chr8:90741229-90741242
7	CEBPB	chr8:90741015-90741724	K562	blood:	n/a	chr8:90741231-90741240 chr8:90741231-90741242 chr8:90741229-90741242 chr8:90741229-90741240 chr8:90741229-90741242
8	MAFK	chr8:90741029-90741672	K562	blood:	n/a	n/a
9	IRF1	chr8:90740988-90741733	K562	blood:	n/a	n/a
10	EP300	chr8:90740904-90741718	GM12878	blood:	n/a	n/a
11	NFIC	chr8:90740962-90741914	GM12878	blood:	n/a	n/a
12	ZMIZ1	chr8:90741001-90741661	K562	blood:	n/a	n/a
13	CUX1	chr8:90740894-90741641	K562	blood:	n/a	n/a
14	CEBPB	chr8:90741060-90741480	HepG2	liver:	n/a	chr8:90741231-90741240 chr8:90741231-90741242 chr8:90741229-90741242 chr8:90741229-90741240 chr8:90741229-90741242
15	CREB1	chr8:90741114-90741774	GM12878	blood:	n/a	n/a
16	RCOR1	chr8:90741056-90741764	K562	blood:	n/a	n/a
17	TBL1XR1	chr8:90740504-90741731	K562	blood:	n/a	n/a
18	TAL1	chr8:90740864-90741716	K562	blood:	n/a	n/a
19	POLR2A	chr8:90740941-90742723	GM12878	blood:	n/a	n/a
20	NFATC1	chr8:90741070-90741798	GM12878	blood:	n/a	n/a
21	BHLHE40	chr8:90741068-90741648	K562	blood:	n/a	n/a
22	TBP	chr8:90740796-90741763	GM12878	blood:	n/a	n/a
23	MAZ	chr8:90740971-90741685	K562	blood:	n/a	chr8:90741491-90741500
24	MYC	chr8:90740924-90741785	K562	blood:	n/a	chr8:90741491-90741500
25	JUND	chr8:90740867-90741734	K562	blood:	n/a	n/a
26	CBX3	chr8:90740890-90741741	K562	blood:	n/a	n/a
27	ATF1	chr8:90740926-90741719	K562	blood:	n/a	n/a
28	CHD1	chr8:90741049-90741644	GM12878	blood:	n/a	n/a
29	CEBPB	chr8:90741065-90741667	Hela-S3	cervix:	n/a	chr8:90741231-90741240 chr8:90741231-90741242 chr8:90741229-90741242 chr8:90741229-90741240 chr8:90741229-90741242
30	EP300	chr8:90740977-90741688	K562	blood:	n/a	n/a
31	TBP	chr8:90741064-90741764	K562	blood:	n/a	n/a
32	CEBPB	chr8:90740959-90741684	K562	blood:	n/a	chr8:90741231-90741240 chr8:90741231-90741242 chr8:90741229-90741242 chr8:90741229-90741240 chr8:90741229-90741242
33	PML	chr8:90740789-90741846	GM12878	blood:	n/a	n/a
34	CEBPB	chr8:90741068-90741367	A549	lung:	n/a	chr8:90741231-90741240 chr8:90741231-90741242 chr8:90741229-90741242 chr8:90741229-90741240 chr8:90741229-90741242

No.	Distal block	Cell Line	Cell type
1	chr8:90740620..90742197-chr8:90743722..90745998,2	K562	blood:
2	chr8:90738912..90741485-chr8:91017416..91019883,2	K562	blood:
3	chr8:90740621..90743258-chr8:90763138..90765800,2	K562	blood:
4	chr8:90739799..90743850-chr8:90767861..90774313,11	K562	blood:
5	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
6	chr8:90732925..90737686-chr8:90738407..90742912,6	K562	blood:
7	chr8:90732834..90736227-chr8:90736670..90741646,5	MCF-7	breast:
8	chr8:90740411..90742010-chr8:90994882..90996914,2	K562	blood:
9	chr8:90737934..90739593-chr8:90739830..90742161,2	K562	blood:
10	chr8:90740691..90742554-chr8:91012981..91015197,3	MCF-7	breast:
11	chr8:90739799..90744088-chr8:90767861..90774313,10	K562	blood:
12	chr8:90740510..90743977-chr8:90993488..90997809,6	K562	blood:
13	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
14	chr8:90736651..90739528-chr8:90739958..90742509,3	MCF-7	breast:
15	chr8:90734630..90736246-chr8:90739978..90742912,2	K562	blood:

Variant related genes	Relation type
ENSG00000251136	TF binding region
ENSG00000251136	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1003843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095743	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10112852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12675281	0.80[EUR][1000 genomes]
rs13252013	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13252917	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13259882	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13279023	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1397308	0.81[CEU][hapmap]
rs16900429	0.81[CHB][hapmap]
rs184302	0.85[EUR][1000 genomes]
rs218895	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs218899	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218900	0.96[CEU][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218901	0.96[CEU][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218902	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218903	0.96[CEU][hapmap]
rs218905	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218909	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218910	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218914	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218916	0.80[EUR][1000 genomes]
rs218925	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218932	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218934	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218936	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218944	0.86[EUR][1000 genomes]
rs218946	0.87[EUR][1000 genomes]
rs218947	0.87[EUR][1000 genomes]
rs218948	0.85[EUR][1000 genomes]
rs2644021	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2644033	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735870	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2735871	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2735873	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735878	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735882	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs369771	0.82[CHB][hapmap]
rs370282	0.84[AMR][1000 genomes]
rs383592	0.83[EUR][1000 genomes]
rs385524	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs394108	0.82[CHB][hapmap]
rs39499	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39500	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39503	0.88[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39504	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39505	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39506	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39509	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs39515	0.82[CHB][hapmap]
rs39761	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs400411	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs40246	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs40247	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs402886	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40382	0.83[AMR][1000 genomes]
rs40452	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40453	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs40459	0.81[CEU][hapmap]
rs40544	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40545	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40547	0.81[AMR][1000 genomes]
rs405734	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40636	0.85[AMR][1000 genomes]
rs40638	0.84[AMR][1000 genomes]
rs410663	0.81[CEU][hapmap]
rs411279	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs416324	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs419754	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs42346	0.85[AMR][1000 genomes]
rs42481	0.81[CEU][hapmap]
rs42490	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs431264	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs43134	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs43135	0.82[AMR][1000 genomes]
rs43225	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs447618	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs454441	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs454561	0.82[CHB][hapmap]
rs465	0.83[AMR][1000 genomes]
rs4961158	0.80[EUR][1000 genomes]
rs51331	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6470366	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67143546	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6992985	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6993133	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7824932	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
5	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs218908	RP11-37B2.1	cis	Nerve Tibial	GTEx
rs218908	RP11-37B2.1	cis	Thyroid	GTEx
rs218908	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx
rs218908	RP11-37B2.1	cis	Artery Tibial	GTEx
rs218908	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90713200-90741200	Weak transcription	Left Ventricle	heart
2	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
3	chr8:90714200-90741400	Weak transcription	Right Ventricle	heart
4	chr8:90715400-90741200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:90717800-90747800	Weak transcription	Ovary	ovary
6	chr8:90720800-90742400	Weak transcription	Fetal Lung	lung
7	chr8:90726600-90741400	Weak transcription	Esophagus	oesophagus
8	chr8:90733600-90741200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:90734000-90741200	Weak transcription	Liver	Liver
10	chr8:90734200-90741200	Weak transcription	Placenta	Placenta
11	chr8:90735400-90741200	Weak transcription	Primary T cells from cord blood	blood
12	chr8:90737000-90741400	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:90737200-90741400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:90738000-90741400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:90738200-90741400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:90738400-90741400	Weak transcription	Right Atrium	heart
17	chr8:90738600-90742400	Weak transcription	Aorta	Aorta
18	chr8:90738600-90749000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:90738600-90749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:90738800-90741200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:90738800-90741200	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:90738800-90741200	Weak transcription	HUVEC	blood vessel
23	chr8:90739000-90749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:90739200-90744800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:90739200-90748800	Weak transcription	A549	lung
26	chr8:90739400-90741400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:90739400-90745400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:90739600-90742000	Weak transcription	HMEC	breast
29	chr8:90739600-90743000	Weak transcription	HSMM	muscle
30	chr8:90740000-90742600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr8:90740200-90741600	Enhancers	Fetal Intestine Small	intestine
32	chr8:90740400-90741200	Enhancers	Primary B cells from peripheral blood	blood
33	chr8:90740400-90741400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:90740400-90741400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:90740400-90741400	Flanking Active TSS	GM12878-XiMat	blood
36	chr8:90740400-90741600	Enhancers	Small Intestine	intestine
37	chr8:90740400-90741800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:90740400-90741800	Enhancers	NHDF-Ad	bronchial
39	chr8:90740400-90742000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:90740400-90742600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr8:90740400-90742800	Enhancers	Fetal Intestine Large	intestine
42	chr8:90740600-90741200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:90740600-90741200	Enhancers	Hela-S3	cervix
44	chr8:90740600-90741400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:90740600-90741400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr8:90740600-90741400	Enhancers	Fetal Heart	heart
47	chr8:90740600-90741800	Enhancers	NHEK	skin
48	chr8:90740600-90742200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr8:90740800-90741200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr8:90740800-90741400	Enhancers	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links