Variant report

Variant	rs11776767
Chromosome Location	chr8:10683929-10683930
allele	C/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	POLR2A	chr8:10683802-10683979	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10683547..10686608-chr8:10694341..10697878,5	K562	blood:
2	chr8:10683525..10686850-chr8:10694502..10697878,5	K562	blood:

Variant related genes	Relation type
PINX1	TF binding region
ENSG00000258724	Chromatin interaction
ENSG00000254093	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10046628	0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs10089153	0.88[CHB][hapmap]
rs10091386	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10093774	0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs10098699	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10099929	0.92[ASN][1000 genomes]
rs10109416	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10109550	0.81[CHB][hapmap]
rs11250080	0.80[CEU][hapmap]
rs11250081	0.92[ASN][1000 genomes]
rs11250083	0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs11776674	0.84[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11986845	0.91[ASN][1000 genomes]
rs11986935	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11996727	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12541110	0.93[ASN][1000 genomes]
rs13254059	0.85[ASN][1000 genomes]
rs13254592	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13274017	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1469556	0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs1549796	0.95[ASN][1000 genomes]
rs17152576	0.99[ASN][1000 genomes]
rs1991649	0.86[ASN][1000 genomes]
rs1991650	0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs1991651	0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs2271355	0.94[JPT][hapmap]
rs2271357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277130	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2278335	0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2292370	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2292371	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2409649	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2409650	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs28613656	0.93[ASN][1000 genomes]
rs34653170	0.93[ASN][1000 genomes]
rs35091929	0.92[ASN][1000 genomes]
rs3808603	0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs4840519	0.94[ASN][1000 genomes]
rs4841452	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6601533	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6601534	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs6601535	0.93[ASN][1000 genomes]
rs6601536	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs66844016	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs67211633	0.97[ASN][1000 genomes]
rs6980805	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6982769	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6984388	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987199	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6987200	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6988598	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6989846	0.82[CHB][hapmap]
rs6990055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6990589	0.82[CHB][hapmap]
rs6991499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6991526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6992366	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6993121	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7000939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7001887	0.92[ASN][1000 genomes]
rs7004998	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7010680	0.89[ASN][1000 genomes]
rs7010709	0.82[CHB][hapmap]
rs7012206	0.93[ASN][1000 genomes]
rs7013032	0.94[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs752446	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7818181	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7824384	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs7825100	0.96[ASN][1000 genomes]
rs7829089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830317	0.93[ASN][1000 genomes]
rs7830431	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7833128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833945	0.87[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7840785	0.88[CHB][hapmap]
rs7841093	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7846449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv429860	chr8:10615990-10685890	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
13	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Triglycerides	20686565	GWAS catalog
Triglycerides	24097068	GWAS catalog

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10657400-10685800	Weak transcription	Psoas Muscle	Psoas
2	chr8:10663000-10696200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:10665800-10688200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:10666400-10695200	Strong transcription	Primary T cells from cord blood	blood
5	chr8:10666800-10692400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:10667600-10693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:10668400-10696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:10669200-10692800	Strong transcription	Primary B cells from cord blood	blood
9	chr8:10669400-10692200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr8:10669600-10691800	Strong transcription	GM12878-XiMat	blood
11	chr8:10669600-10692800	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:10670200-10692000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:10670400-10692800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:10671400-10692000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:10673000-10686800	Strong transcription	Fetal Thymus	thymus
16	chr8:10673000-10692000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr8:10673200-10686600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:10673200-10692200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr8:10673200-10692400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:10673400-10684600	Weak transcription	Small Intestine	intestine
21	chr8:10673800-10684000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:10673800-10692000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:10674000-10690200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:10674400-10692000	Strong transcription	Stomach Smooth Muscle	stomach
25	chr8:10674400-10692800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:10674600-10692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:10674600-10692000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:10674600-10692000	Strong transcription	Fetal Muscle Leg	muscle
29	chr8:10674600-10692200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:10674600-10692200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:10674600-10693200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:10674800-10696200	Weak transcription	Stomach Mucosa	stomach
33	chr8:10675000-10693000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:10676200-10686400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:10676200-10696200	Weak transcription	Fetal Heart	heart
36	chr8:10676600-10684000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:10676600-10684200	Weak transcription	Esophagus	oesophagus
38	chr8:10676600-10685600	Weak transcription	Brain Germinal Matrix	brain
39	chr8:10676600-10685800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:10676800-10684800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:10676800-10685800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:10677200-10692400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:10677200-10692400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:10677200-10692400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:10678400-10686400	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:10678400-10692000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:10678400-10692200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr8:10678400-10692800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr8:10678600-10686800	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr8:10678600-10692400	Strong transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links