Variant report

Variant	rs6469895
Chromosome Location	chr8:121063562-121063563
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121062026..121064422-chr8:121066001..121067878,2	K562	blood:

Variant related genes	Relation type
ENSG00000254343	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10090001	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10095205	0.85[EUR][1000 genomes]
rs10095532	0.85[EUR][1000 genomes]
rs10101620	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10101943	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10505376	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808506	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs10955948	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1120223	0.87[EUR][1000 genomes]
rs11780912	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11780985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114445	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542895	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543907	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12545676	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12548223	0.90[JPT][hapmap]
rs12548273	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1519807	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1519808	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1519812	0.85[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap]
rs1519813	0.92[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16893478	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893517	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893536	0.80[JPT][hapmap]
rs16893570	0.80[JPT][hapmap]
rs17226296	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17822044	0.90[JPT][hapmap]
rs1980228	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs2292946	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28530768	0.85[EUR][1000 genomes]
rs2875928	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2875931	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871825	0.90[JPT][hapmap]
rs4871828	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56702755	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57868486	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60717250	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60754245	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469894	0.91[EUR][1000 genomes]
rs6469897	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66490854	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66507952	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66614869	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67872361	0.83[EUR][1000 genomes]
rs6980708	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs6981402	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6986231	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6993924	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6998730	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7004815	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7005228	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7007998	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013298	0.96[CEU][hapmap];0.88[CHD][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7016816	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72675741	1.00[ASN][1000 genomes]
rs73315941	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7816925	0.80[JPT][hapmap]
rs7817016	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs7821947	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7822662	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822927	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829101	0.80[CEU][hapmap];0.85[CHD][hapmap];0.85[EUR][1000 genomes]
rs7829116	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7830028	0.85[EUR][1000 genomes]
rs7833073	0.96[CEU][hapmap];0.88[CHD][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7836087	0.96[CEU][hapmap];0.85[CHD][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7840217	0.80[JPT][hapmap]
rs7841230	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs955293	0.85[CEU][hapmap];0.88[CHD][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs960887	0.86[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6469895	RP11-760H22.2	cis	Adipose Subcutaneous	GTEx
rs6469895	DEPDC6	cis	uninvolved skin	skin_eQTL
rs6469895	DEPDC6	cis	normal skin	skin_eQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
2	chr8:121022400-121065400	Weak transcription	Left Ventricle	heart
3	chr8:121036000-121063800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:121046200-121065200	Weak transcription	Psoas Muscle	Psoas
5	chr8:121048800-121063600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:121048800-121063600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:121049200-121072800	Weak transcription	Fetal Lung	lung
8	chr8:121049200-121072800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:121053600-121064000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:121053600-121067200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:121053600-121072800	Weak transcription	Brain Angular Gyrus	brain
12	chr8:121053600-121072800	Weak transcription	Brain Substantia Nigra	brain
13	chr8:121053600-121072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:121053800-121072800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:121058400-121065400	Weak transcription	Pancreas	Pancrea
16	chr8:121058400-121066200	Weak transcription	Gastric	stomach
17	chr8:121059400-121077800	Weak transcription	Fetal Stomach	stomach
18	chr8:121059600-121064600	Weak transcription	Fetal Intestine Small	intestine
19	chr8:121060600-121063600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:121060600-121064400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:121060600-121085000	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:121060800-121072800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:121061000-121064000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:121061000-121064000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:121061000-121064200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:121061000-121064600	Weak transcription	Ovary	ovary
27	chr8:121061000-121065400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:121061000-121072800	Weak transcription	Fetal Kidney	kidney
29	chr8:121061600-121064400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:121061600-121064600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:121061800-121064000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:121061800-121064400	Strong transcription	Brain Hippocampus Middle	brain
33	chr8:121061800-121064600	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr8:121061800-121066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:121062200-121063800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:121062400-121066800	Weak transcription	Adipose Nuclei	Adipose
37	chr8:121062400-121073000	Weak transcription	Fetal Intestine Large	intestine
38	chr8:121062600-121063800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr8:121062600-121064000	Weak transcription	Liver	Liver
40	chr8:121062600-121069800	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:121062600-121072600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:121063000-121072600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:121063000-121072800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr8:121063000-121073000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:121063200-121063600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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