Variant report

Variant	rs6996081
Chromosome Location	chr8:120947105-120947106
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120940406..120942141-chr8:120945749..120947949,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10092845	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10099088	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10102995	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs10955942	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998247	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs12541326	0.82[EUR][1000 genomes]
rs12541733	1.00[CHB][hapmap]
rs12548248	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12677306	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs12679478	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs13263147	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13265513	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs13265734	0.82[EUR][1000 genomes]
rs13278508	0.83[EUR][1000 genomes]
rs13280041	0.83[EUR][1000 genomes]
rs16893299	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1879149	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2002377	0.83[EUR][1000 genomes]
rs2017310	0.83[EUR][1000 genomes]
rs2056305	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs2139430	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2139431	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2176750	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2326432	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs28461628	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28546392	0.83[EUR][1000 genomes]
rs28600928	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35362581	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4073559	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4455866	0.90[ASN][1000 genomes]
rs4871010	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4871011	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4871786	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4871793	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4871795	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56177421	0.80[EUR][1000 genomes]
rs62528677	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62528692	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469860	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6469866	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs6469874	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6469875	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs6469876	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6995862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999911	0.81[EUR][1000 genomes]
rs7000068	0.83[EUR][1000 genomes]
rs7000488	0.82[EUR][1000 genomes]
rs7002423	0.86[EUR][1000 genomes]
rs7004324	0.83[EUR][1000 genomes]
rs7005888	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7007672	0.81[EUR][1000 genomes]
rs7018038	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7388491	1.00[CEU][hapmap];0.93[GIH][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7461170	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs7813263	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.93[MEX][hapmap];0.86[MKK][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813430	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7823280	1.00[CEU][hapmap]
rs7837823	0.82[EUR][1000 genomes]
rs7838578	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7845043	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs869340	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs869341	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9297607	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9649948	1.00[CEU][hapmap];0.93[GIH][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9649949	0.81[EUR][1000 genomes]
rs9987135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9987139	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9987140	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9987142	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9987165	0.85[EUR][1000 genomes]
rs9987297	0.83[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	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv972194	chr8:120898451-120965081	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1018953	chr8:120910380-120954832	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs6996081	TNFRSF11B	cis	lymphoblastoid	seeQTL
rs6996081	DSCC1	cis	Skin Sun Exposed Lower leg	GTEx
rs6996081	DEPDC6	cis	uninvolved skin	skin_eQTL
rs6996081	DSCC1	cis	cerebellum	SCAN
rs6996081	DEPDC6	cis	lesional skin	skin_eQTL
rs6996081	DSCC1	cis	Esophagus Muscularis	GTEx
rs6996081	DEPDC6	cis	cerebellum	SCAN
rs6996081	DSCC1	cis	Adipose Subcutaneous	GTEx
rs6996081	DSCC1	cis	parietal	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120933000-120948600	Weak transcription	Colonic Mucosa	Colon
2	chr8:120933000-120948800	Weak transcription	Esophagus	oesophagus
3	chr8:120933200-120953600	Weak transcription	Right Ventricle	heart
4	chr8:120934000-120950000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:120935400-120959200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:120935800-120963200	Weak transcription	Psoas Muscle	Psoas
7	chr8:120939400-120948400	Weak transcription	Brain Anterior Caudate	brain
8	chr8:120939600-120959200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:120940200-120951000	Weak transcription	Osteobl	bone
10	chr8:120940600-120947600	Strong transcription	Liver	Liver
11	chr8:120940600-120950200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:120940600-120950200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:120940800-120947400	Strong transcription	Ovary	ovary
14	chr8:120941200-120948800	Strong transcription	Fetal Muscle Leg	muscle
15	chr8:120941400-120947200	Strong transcription	Fetal Intestine Large	intestine
16	chr8:120941800-120953200	Weak transcription	Fetal Lung	lung
17	chr8:120942400-120947400	Strong transcription	Fetal Stomach	stomach
18	chr8:120942800-120948800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr8:120943800-120951400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:120944000-120959200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:120944400-120947200	Enhancers	Fetal Thymus	thymus
22	chr8:120944800-120947200	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:120945000-120947200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr8:120945200-120977400	Weak transcription	Fetal Kidney	kidney
25	chr8:120945400-120947800	Strong transcription	Fetal Intestine Small	intestine
26	chr8:120945600-120955400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:120946200-120949800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:120946400-120947200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr8:120946400-120947600	Genic enhancers	Brain Angular Gyrus	brain
30	chr8:120946400-120947600	Enhancers	Brain Cingulate Gyrus	brain
31	chr8:120946400-120947600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:120946400-120949000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:120946600-120947200	Genic enhancers	Brain Substantia Nigra	brain
34	chr8:120946600-120947200	Genic enhancers	Gastric	stomach
35	chr8:120946600-120947400	Strong transcription	Adipose Nuclei	Adipose
36	chr8:120946600-120947400	Enhancers	Brain Hippocampus Middle	brain
37	chr8:120946600-120947400	Genic enhancers	Brain Inferior Temporal Lobe	brain
38	chr8:120946600-120947400	Strong transcription	Pancreas	Pancrea
39	chr8:120946600-120947400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
40	chr8:120946600-120947400	Genic enhancers	Spleen	Spleen
41	chr8:120946600-120950400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:120946600-120950400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:120946600-120951000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr8:120946800-120947200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:120946800-120947200	Enhancers	Stomach Mucosa	stomach
46	chr8:120946800-120947400	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:120946800-120947400	Enhancers	GM12878-XiMat	blood
48	chr8:120946800-120947600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr8:120947000-120947600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:120947000-120947600	Strong transcription	Duodenum Mucosa	Duodenum

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