Variant report

Variant	rs7831973
Chromosome Location	chr8:120791210-120791211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120790458..120793284-chr8:120795607..120798473,3	MCF-7	breast:
2	chr8:120772029..120773803-chr8:120789789..120791960,2	K562	blood:
3	chr8:120772303..120774790-chr8:120789073..120791289,2	K562	blood:

Variant related genes	Relation type
ENSG00000064313	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10087974	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10088205	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10088741	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10108101	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11785572	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11985347	0.88[EUR][1000 genomes]
rs11996390	0.96[EUR][1000 genomes]
rs11998531	0.89[EUR][1000 genomes]
rs12156318	0.91[EUR][1000 genomes]
rs1355174	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16893214	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2063283	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2063284	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28394804	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28490296	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28551477	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56180159	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56281801	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56366115	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60145621	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60917006	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61438417	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62526598	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6469845	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988621	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6989803	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6994085	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6995594	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6999808	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7002501	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003687	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7815389	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7827811	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828086	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7831639	0.89[EUR][1000 genomes]
rs7836830	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838465	0.94[EUR][1000 genomes]
rs9297606	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs953614	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs953615	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7831973	DSCC1	cis	Artery Tibial	GTEx
rs7831973	DSCC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120742600-120812800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:120744000-120814600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:120744400-120824400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:120760600-120804600	Weak transcription	Psoas Muscle	Psoas
5	chr8:120761600-120800800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:120767200-120807400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:120773600-120795000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:120776400-120797800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr8:120780200-120792600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:120780400-120801200	Weak transcription	Brain Substantia Nigra	brain
11	chr8:120780600-120792000	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:120780800-120791800	Weak transcription	Stomach Mucosa	stomach
13	chr8:120781000-120807000	Weak transcription	Brain Angular Gyrus	brain
14	chr8:120781000-120813800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:120781200-120792000	Weak transcription	A549	lung
16	chr8:120781200-120792000	Weak transcription	HSMMtube	muscle
17	chr8:120781200-120795000	Weak transcription	NHEK	skin
18	chr8:120781200-120795600	Weak transcription	HMEC	breast
19	chr8:120781200-120796400	Weak transcription	Pancreas	Pancrea
20	chr8:120781200-120801000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:120781200-120801400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:120781200-120804400	Weak transcription	Spleen	Spleen
23	chr8:120781200-120804600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:120781200-120807000	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:120781200-120807800	Weak transcription	NHLF	lung
26	chr8:120781200-120812800	Weak transcription	Colonic Mucosa	Colon
27	chr8:120781200-120829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:120781400-120792200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:120781400-120792600	Weak transcription	Left Ventricle	heart
30	chr8:120781400-120794000	Weak transcription	Ovary	ovary
31	chr8:120781400-120802800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr8:120781400-120803000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:120781400-120804400	Weak transcription	Esophagus	oesophagus
34	chr8:120781400-120804600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:120781400-120804800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:120781400-120805000	Weak transcription	Gastric	stomach
37	chr8:120781400-120812800	Weak transcription	Right Ventricle	heart
38	chr8:120781400-120813800	Weak transcription	Aorta	Aorta
39	chr8:120781600-120792000	Weak transcription	HepG2	liver
40	chr8:120781600-120812800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:120781600-120844200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr8:120781800-120792200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr8:120782800-120797400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:120782800-120797800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:120782800-120799000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:120783000-120791800	Weak transcription	Fetal Brain Female	brain
47	chr8:120783600-120791600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:120783800-120804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:120785200-120812000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:120785200-120812600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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