Variant report

Variant	rs4520196
Chromosome Location	chr8:120600394-120600395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120588682..120590433-chr8:120600197..120602322,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10097147	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10097368	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10097501	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10098410	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10110878	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10112316	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11991811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13277188	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1374099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1374100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1374101	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2326304	0.82[CEU][hapmap]
rs2875905	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2875906	0.82[CEU][hapmap]
rs3793378	0.82[CEU][hapmap]
rs4871360	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4871401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6469833	0.82[CEU][hapmap]
rs6986760	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6987103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6987232	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7007302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7017581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs755175	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7822457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7823511	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9297599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs935360	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4520196	ANXA2	trans	cerebellum	SCAN
rs4520196	MAL2	cis	Thyroid	GTEx
rs4520196	ENPP2	cis	multi-tissue	Pritchard

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
2	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
3	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:120573000-120607200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:120589600-120603000	Genic enhancers	NHDF-Ad	bronchial
6	chr8:120591000-120605400	Weak transcription	Fetal Brain Male	brain
7	chr8:120593000-120604800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr8:120595600-120601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:120595600-120601400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:120595600-120638000	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:120595800-120633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:120595800-120637800	Weak transcription	Fetal Stomach	stomach
13	chr8:120596200-120606800	Weak transcription	Primary T cells from cord blood	blood
14	chr8:120597600-120634400	Weak transcription	Fetal Thymus	thymus
15	chr8:120598400-120601800	Genic enhancers	Adipose Nuclei	Adipose
16	chr8:120598800-120601200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:120599000-120600600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:120599000-120601600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:120599000-120602000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:120599200-120601000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:120599200-120608000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:120599200-120612800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:120599400-120600600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:120599400-120600800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:120599400-120603200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:120599400-120609000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:120599600-120600800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:120599600-120600800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:120599600-120601000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:120599600-120601000	Weak transcription	Brain Substantia Nigra	brain
31	chr8:120599600-120601400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:120599800-120601000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:120599800-120601400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:120599800-120601400	Weak transcription	HSMM	muscle
35	chr8:120599800-120602000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:120599800-120605600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:120599800-120609800	Weak transcription	Brain Angular Gyrus	brain
38	chr8:120599800-120613600	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:120599800-120614800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr8:120600000-120600800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:120600000-120600800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:120600000-120602200	Weak transcription	Placenta	Placenta
43	chr8:120600000-120603400	Strong transcription	Fetal Lung	lung
44	chr8:120600000-120605400	Weak transcription	Liver	Liver
45	chr8:120600000-120610400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:120600000-120617400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:120600000-120618000	Weak transcription	Brain Anterior Caudate	brain
48	chr8:120600200-120600600	Weak transcription	NHLF	lung
49	chr8:120600200-120601000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:120600200-120601000	Weak transcription	Osteobl	bone

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