Variant report

Variant	rs2063283
Chromosome Location	chr8:120820577-120820578
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120818928..120821201-chr8:120825168..120827262,3	K562	blood:
2	chr8:120814901..120817854-chr8:120818185..120821075,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10087974	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10088205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10088741	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10108101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11998531	0.90[EUR][1000 genomes]
rs12156318	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1355174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][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];0.86[ASN][1000 genomes]
rs17818440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17818446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17818842	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2063284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28394804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490296	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28551477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56180159	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56281801	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56366115	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60145621	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60917006	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61438417	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62526598	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62526601	0.86[ASN][1000 genomes]
rs62526606	0.86[ASN][1000 genomes]
rs6469845	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];0.98[EUR][1000 genomes];0.87[ASN][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];0.94[EUR][1000 genomes]
rs6989803	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]
rs6994085	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]
rs6995594	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6999808	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7003687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007320	1.00[CHB][hapmap]
rs7007970	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7813113	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7815122	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7815389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7827811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7828086	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]
rs7831639	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7831973	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7836830	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7837894	1.00[JPT][hapmap]
rs7838465	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][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];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs953615	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9650078	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]

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	esv3481251	chr8:120800778-120823850	Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3481253	chr8:120800792-120823847	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2063283	DSCC1	cis	Skin Sun Exposed Lower leg	GTEx
rs2063283	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	chr8:120744400-120824400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:120781200-120829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:120781600-120844200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:120791000-120833200	Weak transcription	Fetal Heart	heart
5	chr8:120800200-120821800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:120801800-120830400	Weak transcription	NHEK	skin
7	chr8:120804800-120824200	Weak transcription	Stomach Mucosa	stomach
8	chr8:120805200-120841400	Weak transcription	Gastric	stomach
9	chr8:120805200-120843000	Weak transcription	Psoas Muscle	Psoas
10	chr8:120806600-120836800	Weak transcription	Esophagus	oesophagus
11	chr8:120808000-120830200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:120812000-120821800	Strong transcription	Liver	Liver
13	chr8:120812600-120823000	Strong transcription	Adipose Nuclei	Adipose
14	chr8:120812600-120833000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:120812800-120820800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr8:120812800-120821400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr8:120812800-120822000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr8:120812800-120822600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:120812800-120822800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:120812800-120822800	Strong transcription	HSMM	muscle
21	chr8:120812800-120823000	Strong transcription	Primary T cells from cord blood	blood
22	chr8:120812800-120823200	Strong transcription	Fetal Thymus	thymus
23	chr8:120812800-120826600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:120812800-120834200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:120812800-120835000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr8:120812800-120835400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr8:120812800-120837600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr8:120812800-120842800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr8:120812800-120843600	Strong transcription	Placenta	Placenta
30	chr8:120813200-120822000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr8:120813200-120823000	Strong transcription	Osteobl	bone
32	chr8:120813200-120829600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:120813400-120821800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:120813400-120821800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:120813400-120822000	Strong transcription	Primary B cells from cord blood	blood
36	chr8:120813400-120822200	Strong transcription	Fetal Muscle Leg	muscle
37	chr8:120813400-120822600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:120813400-120822800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:120813400-120823000	Strong transcription	NH-A	brain
40	chr8:120813400-120824400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr8:120813400-120826200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:120813400-120829600	Weak transcription	HSMMtube	muscle
43	chr8:120813400-120835800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:120813400-120844200	Weak transcription	Colonic Mucosa	Colon
45	chr8:120813600-120821200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:120813600-120822000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:120813800-120822200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:120813800-120835600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr8:120814000-120828400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:120814000-120843600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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