Variant report

Variant	rs6469858
Chromosome Location	chr8:120896235-120896236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120895341..120897767-chr8:120900762..120903244,3	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10086801	0.91[ASN][1000 genomes]
rs10092845	0.82[AFR][1000 genomes]
rs10108101	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10955939	0.91[ASN][1000 genomes]
rs11991780	0.91[ASN][1000 genomes]
rs11996390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13263147	0.85[AFR][1000 genomes]
rs1355174	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16893214	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16893240	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16893243	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16893249	0.91[ASN][1000 genomes]
rs16893252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[ASN][1000 genomes]
rs17818097	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17818440	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17818446	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17818842	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2063283	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2063284	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4871010	0.89[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs4871011	0.89[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs55776270	0.91[ASN][1000 genomes]
rs55889147	0.91[ASN][1000 genomes]
rs58900911	0.91[ASN][1000 genomes]
rs62526621	0.91[ASN][1000 genomes]
rs62526623	0.91[ASN][1000 genomes]
rs62526624	0.91[ASN][1000 genomes]
rs62526625	0.91[ASN][1000 genomes]
rs62526635	0.91[ASN][1000 genomes]
rs62526636	0.91[ASN][1000 genomes]
rs62526637	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs62526638	0.91[ASN][1000 genomes]
rs62526639	0.91[ASN][1000 genomes]
rs62526640	0.91[ASN][1000 genomes]
rs62526641	0.91[ASN][1000 genomes]
rs62526642	0.91[ASN][1000 genomes]
rs6469845	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6469856	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469860	0.85[AFR][1000 genomes]
rs6469874	0.80[AFR][1000 genomes]
rs6981251	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6982092	0.91[ASN][1000 genomes]
rs6982342	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987018	1.00[CHB][hapmap];0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6987100	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6987160	0.91[ASN][1000 genomes]
rs6987389	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6989803	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6994085	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6994428	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6995862	0.89[YRI][hapmap]
rs6999808	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7001930	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7002440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7002501	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7003687	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7007123	0.91[ASN][1000 genomes]
rs7007265	0.91[ASN][1000 genomes]
rs7007320	1.00[CHB][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690123	0.91[ASN][1000 genomes]
rs72690128	0.91[ASN][1000 genomes]
rs72690134	0.91[ASN][1000 genomes]
rs72690137	0.91[ASN][1000 genomes]
rs73705442	0.91[ASN][1000 genomes]
rs7465510	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7465526	0.87[CEU][hapmap]
rs7813113	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7815122	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7815266	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7815389	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7823280	1.00[YRI][hapmap]
rs7823836	0.91[ASN][1000 genomes]
rs7823910	0.91[ASN][1000 genomes]
rs7823917	0.91[ASN][1000 genomes]
rs7827811	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7828086	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7837823	0.82[AFR][1000 genomes]
rs7838578	0.85[AFR][1000 genomes]
rs7843080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7843579	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7845043	0.85[AFR][1000 genomes]
rs9297606	1.00[JPT][hapmap]
rs953614	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9650078	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs6469858	DSCC1	cis	Muscle Skeletal	GTEx
rs6469858	DSCC1	cis	Esophagus Muscularis	GTEx
rs6469858	DSCC1	cis	Adipose Subcutaneous	GTEx
rs6469858	DSCC1	cis	Nerve Tibial	GTEx
rs6469858	DSCC1	cis	parietal	SCAN
rs6469858	DSCC1	cis	Skin Sun Exposed Lower leg	GTEx
rs6469858	DEPDC6	cis	cerebellum	SCAN
rs6469858	TAF2	cis	cerebellum	SCAN
rs6469858	DSCC1	cis	cerebellum	SCAN
rs6469858	DSCC1	cis	Artery Tibial	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120887200-120898400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:120887200-120907600	Weak transcription	Pancreas	Pancrea
3	chr8:120887600-120899400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:120888000-120903800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:120888200-120903400	Weak transcription	Right Atrium	heart
6	chr8:120888200-120904600	Weak transcription	Fetal Kidney	kidney
7	chr8:120888600-120899400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:120888600-120899800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:120888800-120898400	Weak transcription	Gastric	stomach
10	chr8:120889400-120898200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:120889600-120902200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:120889600-120905400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:120889800-120898200	Weak transcription	Stomach Mucosa	stomach
14	chr8:120889800-120903200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:120889800-120903600	Weak transcription	Fetal Stomach	stomach
16	chr8:120890000-120898400	Weak transcription	Brain Angular Gyrus	brain
17	chr8:120890000-120898400	Weak transcription	Psoas Muscle	Psoas
18	chr8:120890000-120905400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:120890200-120898400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:120890200-120898400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:120891000-120898400	Weak transcription	Ovary	ovary
22	chr8:120891200-120903800	Weak transcription	Fetal Intestine Large	intestine
23	chr8:120891800-120897200	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:120891800-120902200	Weak transcription	Fetal Intestine Small	intestine
25	chr8:120892000-120897200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:120892000-120898000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:120893600-120897400	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:120894800-120897000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr8:120895400-120897400	Enhancers	Fetal Muscle Leg	muscle
30	chr8:120895400-120898600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:120895600-120896400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:120895600-120903600	Weak transcription	Fetal Lung	lung
33	chr8:120895800-120896400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr8:120896000-120896400	Enhancers	Brain Substantia Nigra	brain
35	chr8:120896200-120898400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:120896200-120904800	Weak transcription	HSMMtube	muscle

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