Variant report

Variant	rs4871635
Chromosome Location	chr8:120819557-120819558
allele	C/T
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: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1509347	0.84[CEU][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes]
rs16892877	0.88[CHD][hapmap]
rs16893285	0.88[CHD][hapmap]
rs17816889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128183	1.00[JPT][hapmap]
rs4871591	1.00[ASN][1000 genomes]
rs6999724	0.88[CHD][hapmap]
rs72688262	1.00[ASN][1000 genomes]
rs72688294	1.00[ASN][1000 genomes]
rs7818752	0.88[CHD][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	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4871635	C8orf85	cis	cerebellum	SCAN
rs4871635	ENPP2	cis	parietal	SCAN
rs4871635	ENPP2	cis	cerebellum	SCAN

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	chr8:120812800-120819800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:120812800-120820200	Strong transcription	Fetal Stomach	stomach
17	chr8:120812800-120820800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr8:120812800-120821400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:120812800-120822000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr8:120812800-120822600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:120812800-120822800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:120812800-120822800	Strong transcription	HSMM	muscle
23	chr8:120812800-120823000	Strong transcription	Primary T cells from cord blood	blood
24	chr8:120812800-120823200	Strong transcription	Fetal Thymus	thymus
25	chr8:120812800-120826600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:120812800-120834200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:120812800-120835000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr8:120812800-120835400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr8:120812800-120837600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr8:120812800-120842800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr8:120812800-120843600	Strong transcription	Placenta	Placenta
32	chr8:120813200-120819600	Strong transcription	Fetal Lung	lung
33	chr8:120813200-120820000	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr8:120813200-120822000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr8:120813200-120823000	Strong transcription	Osteobl	bone
36	chr8:120813200-120829600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr8:120813400-120821800	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr8:120813400-120821800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:120813400-120822000	Strong transcription	Primary B cells from cord blood	blood
40	chr8:120813400-120822200	Strong transcription	Fetal Muscle Leg	muscle
41	chr8:120813400-120822600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:120813400-120822800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:120813400-120823000	Strong transcription	NH-A	brain
44	chr8:120813400-120824400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:120813400-120826200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:120813400-120829600	Weak transcription	HSMMtube	muscle
47	chr8:120813400-120835800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:120813400-120844200	Weak transcription	Colonic Mucosa	Colon
49	chr8:120813600-120821200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:120813600-120822000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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