Variant report

Variant	rs4871584
Chromosome Location	chr8:126363372-126363373
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	chr8:126361514..126365167-chr8:126440219..126443605,3	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10099164	0.96[ASN][1000 genomes]
rs10108110	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10505454	0.88[JPT][hapmap]
rs10808543	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4242368	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4319117	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4602904	0.83[JPT][hapmap]
rs4871588	0.82[JPT][hapmap]
rs6470349	0.83[JPT][hapmap]
rs6981550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6989407	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7010333	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7015414	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814083	0.97[ASN][1000 genomes]
rs7818760	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7819612	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7820471	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7823958	0.81[EUR][1000 genomes]
rs7835771	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7841947	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7844497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
2	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
4	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:126348800-126369800	Weak transcription	Gastric	stomach
6	chr8:126353200-126369600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:126353600-126365000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:126354000-126381200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:126354800-126369000	Weak transcription	Ovary	ovary
10	chr8:126354800-126371800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:126354800-126379800	Weak transcription	Pancreas	Pancrea
12	chr8:126354800-126380400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:126354800-126381600	Weak transcription	Brain Anterior Caudate	brain
14	chr8:126354800-126383200	Weak transcription	Brain Angular Gyrus	brain
15	chr8:126355000-126365000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:126355000-126369400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:126355000-126369600	Weak transcription	Fetal Intestine Large	intestine
18	chr8:126355000-126374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:126355200-126369400	Weak transcription	Left Ventricle	heart
20	chr8:126355200-126369400	Weak transcription	Spleen	Spleen
21	chr8:126355200-126369400	Weak transcription	K562	blood
22	chr8:126355200-126369800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:126355200-126373000	Weak transcription	NH-A	brain
24	chr8:126355200-126374800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:126355200-126374800	Weak transcription	HMEC	breast
26	chr8:126355200-126378800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:126355400-126366800	Weak transcription	HepG2	liver
28	chr8:126355400-126369600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:126355600-126365000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:126355600-126369200	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:126355600-126369400	Weak transcription	Adipose Nuclei	Adipose
32	chr8:126355600-126374200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:126355600-126374400	Weak transcription	NHLF	lung
34	chr8:126355600-126374600	Weak transcription	NHDF-Ad	bronchial
35	chr8:126355600-126375200	Weak transcription	Small Intestine	intestine
36	chr8:126355800-126369400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:126356000-126370800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:126356200-126363600	Weak transcription	Lung	lung
39	chr8:126356800-126364400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:126356800-126372000	Weak transcription	Liver	Liver
41	chr8:126358000-126369400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:126358200-126369200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:126358800-126369400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr8:126358800-126376800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:126359400-126372200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:126359600-126371800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:126359800-126369400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:126359800-126369400	Weak transcription	Fetal Lung	lung
49	chr8:126360200-126369000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr8:126360400-126370200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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