Variant report

Variant	rs7828086
Chromosome Location	chr8:120843775-120843776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120828994..120831612-chr8:120842103..120844089,3	K562	blood:
2	chr8:120843501..120846699-chr8:120865917..120869113,7	MCF-7	breast:
3	chr8:120842870..120846971-chr8:120866583..120869973,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136982	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10087974	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10088205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10088741	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10108101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955938	0.86[ASN][1000 genomes]
rs11785572	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11985347	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11996390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs11998531	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12156318	0.94[EUR][1000 genomes]
rs1355174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16893214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16893240	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16893243	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16893252	1.00[CHB][hapmap];1.00[JPT][hapmap]
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];0.86[ASN][1000 genomes]
rs2063283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2063284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28394804	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28490296	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28551477	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28619135	0.86[ASN][1000 genomes]
rs28700049	0.86[ASN][1000 genomes]
rs55741337	0.86[ASN][1000 genomes]
rs56180159	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56281801	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56366115	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60145621	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60917006	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61438417	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62526598	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62526620	0.86[ASN][1000 genomes]
rs62526622	0.86[ASN][1000 genomes]
rs6469845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6469856	1.00[CHB][hapmap]
rs6469858	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6981251	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6987018	1.00[CHB][hapmap]
rs6987100	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6987389	1.00[JPT][hapmap]
rs6988621	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6989803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995594	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6999808	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7002440	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7002501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7003687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7007320	1.00[CHB][hapmap]
rs7007970	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72690112	0.86[ASN][1000 genomes]
rs7813113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7815122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7815389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825443	0.86[ASN][1000 genomes]
rs7827811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7831639	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7831973	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7836830	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7837894	1.00[JPT][hapmap]
rs7838465	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7843080	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7843579	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9297606	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs953614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs953615	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9650078	1.00[CHB][hapmap];1.00[JPT][hapmap]

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
rs7828086	DSCC1	cis	Artery Tibial	GTEx
rs7828086	DSCC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120781600-120844200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:120813400-120844200	Weak transcription	Colonic Mucosa	Colon
3	chr8:120818800-120844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:120825400-120844200	Weak transcription	Stomach Mucosa	stomach
5	chr8:120829800-120844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:120830000-120844200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:120830800-120843800	Weak transcription	Fetal Brain Male	brain
8	chr8:120833800-120844200	Weak transcription	Brain Angular Gyrus	brain
9	chr8:120834000-120844000	Weak transcription	Fetal Heart	heart
10	chr8:120836000-120844200	Weak transcription	HSMMtube	muscle
11	chr8:120837400-120844200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:120837600-120844200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:120837800-120843800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:120837800-120843800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:120837800-120844000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:120838000-120843800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:120838000-120844200	Weak transcription	Aorta	Aorta
18	chr8:120839400-120844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:120839800-120843800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:120840000-120844000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:120841400-120844200	Weak transcription	Spleen	Spleen
22	chr8:120841600-120844000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:120841600-120844000	Weak transcription	Small Intestine	intestine
24	chr8:120841600-120844000	Weak transcription	A549	lung
25	chr8:120841600-120844200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:120841600-120844400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:120841800-120844000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:120841800-120844000	Weak transcription	Fetal Kidney	kidney
29	chr8:120841800-120844000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr8:120841800-120844000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:120841800-120844200	Weak transcription	Brain Substantia Nigra	brain
32	chr8:120841800-120844200	Weak transcription	Esophagus	oesophagus
33	chr8:120841800-120844200	Weak transcription	Right Ventricle	heart
34	chr8:120841800-120844200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:120842000-120843800	Weak transcription	Primary T cells from cord blood	blood
36	chr8:120842000-120844000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr8:120842000-120844000	Weak transcription	Brain Anterior Caudate	brain
38	chr8:120842000-120844200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:120842000-120844200	Weak transcription	Lung	lung
40	chr8:120842000-120844200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:120842000-120844200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:120842000-120844600	Weak transcription	Gastric	stomach
43	chr8:120842200-120843800	Weak transcription	Fetal Brain Female	brain
44	chr8:120842200-120844000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:120842200-120844000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:120842200-120844000	Weak transcription	HepG2	liver
47	chr8:120842200-120844000	Weak transcription	HSMM	muscle
48	chr8:120842200-120844200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:120842200-120844200	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:120842600-120844400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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