Variant report

Variant	rs10088205
Chromosome Location	chr8:120836392-120836393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120831261..120833687-chr8:120834923..120836702,2	K562	blood:
2	chr8:120828792..120830755-chr8:120834050..120837790,3	K562	blood:
3	chr8:120833974..120836492-chr8:120865753..120868120,2	MCF-7	breast:
4	chr8:120833178..120836613-chr8:120842629..120845407,4	K562	blood:

Variant related genes	Relation type
ENSG00000064313	Chromatin interaction
ENSG00000136982	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10087974	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10088741	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10108101	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11785572	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11985347	0.90[EUR][1000 genomes]
rs11996390	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11998531	0.91[EUR][1000 genomes]
rs12156318	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1355174	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893214	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17818097	0.86[ASN][1000 genomes]
rs17818440	0.86[ASN][1000 genomes]
rs17818446	0.86[ASN][1000 genomes]
rs2063283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063284	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28394804	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490296	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28551477	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56180159	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56281801	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56366115	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60145621	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60917006	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61438417	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62526598	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62526601	0.86[ASN][1000 genomes]
rs62526606	0.86[ASN][1000 genomes]
rs6469845	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6988621	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6989803	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6994085	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6995594	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6999808	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002501	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7003687	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815389	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7827811	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7828086	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7831639	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7831973	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7836830	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7838465	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9297606	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953614	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs953615	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9650078	0.86[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10088205	DSCC1	cis	Artery Tibial	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	chr8:120805200-120841400	Weak transcription	Gastric	stomach
3	chr8:120805200-120843000	Weak transcription	Psoas Muscle	Psoas
4	chr8:120806600-120836800	Weak transcription	Esophagus	oesophagus
5	chr8:120812800-120837600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr8:120812800-120842800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:120812800-120843600	Strong transcription	Placenta	Placenta
8	chr8:120813400-120844200	Weak transcription	Colonic Mucosa	Colon
9	chr8:120814000-120843600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:120815200-120839800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:120815400-120836800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:120815800-120836800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:120815800-120843200	Weak transcription	Pancreas	Pancrea
14	chr8:120816800-120836800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:120817200-120836800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:120818400-120836800	Weak transcription	Lung	lung
17	chr8:120818600-120836800	Weak transcription	Spleen	Spleen
18	chr8:120818600-120837200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:120818800-120844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:120822000-120836800	Weak transcription	Aorta	Aorta
21	chr8:120823800-120842000	Strong transcription	Primary T cells from cord blood	blood
22	chr8:120824000-120843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:120824000-120843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:120824200-120843200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:120824400-120842000	Strong transcription	Liver	Liver
26	chr8:120824800-120843200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:120825000-120836800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr8:120825400-120844200	Weak transcription	Stomach Mucosa	stomach
29	chr8:120826600-120837200	Weak transcription	Fetal Kidney	kidney
30	chr8:120827600-120836800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:120827600-120836800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:120827800-120837800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:120828200-120836800	Weak transcription	NHLF	lung
34	chr8:120829200-120843200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:120829600-120838000	Strong transcription	Adipose Nuclei	Adipose
36	chr8:120829800-120844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:120830000-120839200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:120830000-120844200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr8:120830400-120843200	Weak transcription	HMEC	breast
40	chr8:120830600-120836800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:120830600-120836800	Weak transcription	Left Ventricle	heart
42	chr8:120830600-120836800	Weak transcription	Thymus	Thymus
43	chr8:120830600-120841000	Weak transcription	Small Intestine	intestine
44	chr8:120830800-120837200	Weak transcription	Brain Anterior Caudate	brain
45	chr8:120830800-120839200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:120830800-120843800	Weak transcription	Fetal Brain Male	brain
47	chr8:120831000-120836400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:120831800-120838200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:120831800-120840400	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:120831800-120843600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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