Variant report

Variant	rs4475531
Chromosome Location	chr8:121604970-121604971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10093840	0.81[TSI][hapmap]
rs10098324	0.94[ASN][1000 genomes]
rs10111936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11775515	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11784372	1.00[MEX][hapmap]
rs12675712	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4409432	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs4433191	0.90[TSI][hapmap]
rs4510903	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4870736	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs5019650	0.94[ASN][1000 genomes]
rs57160393	0.83[ASN][1000 genomes]
rs6469938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6986718	0.90[TSI][hapmap]
rs6994929	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6996625	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9969407	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9969413	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121587200-121623000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:121587800-121609200	Weak transcription	Fetal Stomach	stomach
3	chr8:121587800-121611000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:121588400-121610000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
8	chr8:121594200-121605400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:121596800-121606200	Enhancers	NHLF	lung
10	chr8:121596800-121606400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:121597000-121605000	Enhancers	HSMMtube	muscle
12	chr8:121597800-121613200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:121598600-121611000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr8:121598800-121605000	Weak transcription	Lung	lung
15	chr8:121599000-121605400	Weak transcription	Left Ventricle	heart
16	chr8:121599000-121615800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:121599600-121606200	Enhancers	NHDF-Ad	bronchial
18	chr8:121600000-121605000	Enhancers	HSMM	muscle
19	chr8:121600000-121605400	Weak transcription	Psoas Muscle	Psoas
20	chr8:121600200-121605000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:121600600-121609200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:121600800-121605600	Strong transcription	HepG2	liver
23	chr8:121601200-121606400	Enhancers	Fetal Muscle Leg	muscle
24	chr8:121601200-121623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr8:121601400-121605000	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:121602000-121605000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:121602000-121605400	Weak transcription	Gastric	stomach
28	chr8:121602000-121627600	Weak transcription	Aorta	Aorta
29	chr8:121602400-121605600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:121602400-121609200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:121602800-121605000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:121602800-121605000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:121602800-121605200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:121602800-121605200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:121602800-121606800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:121602800-121609400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:121603000-121605400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:121603000-121605400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:121603000-121605600	Weak transcription	Fetal Lung	lung
40	chr8:121603200-121605200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:121603200-121626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:121603400-121605000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:121603600-121606000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:121603800-121605000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:121604000-121606800	Weak transcription	Primary T cells from cord blood	blood
46	chr8:121604200-121608800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr8:121604800-121605200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr8:121604800-121605200	Enhancers	Osteobl	bone
49	chr8:121604800-121605400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr8:121604800-121605600	Enhancers	NH-A	brain

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