Variant report

Variant	rs13257046
Chromosome Location	chr8:57902388-57902389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:57892990..57895689-chr8:57900783..57903742,2	K562	blood:
2	chr8:57902387..57904313-chr8:58024035..58025722,2	K562	blood:
3	chr8:57900198..57903500-chr8:57904441..57907769,5	K562	blood:

Variant related genes	Relation type
ENSG00000104331	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1046636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1046643	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1057407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12676924	0.95[EUR][1000 genomes]
rs12679713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13256360	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13265996	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13272145	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278306	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278878	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34162009	0.95[EUR][1000 genomes]
rs35400916	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3739364	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738557	0.95[EUR][1000 genomes]
rs56922495	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62511997	0.86[EUR][1000 genomes]
rs62511999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62512025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71519474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs925150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1027125	chr8:57891279-58095884	Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57866400-57902600	Weak transcription	Pancreas	Pancrea
2	chr8:57874800-57903800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:57874800-57904400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:57876600-57903200	Weak transcription	Fetal Brain Male	brain
5	chr8:57876600-57904000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:57877200-57905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:57879000-57904600	Weak transcription	Fetal Intestine Small	intestine
8	chr8:57880400-57904600	Weak transcription	Fetal Stomach	stomach
9	chr8:57890400-57902800	Weak transcription	NHEK	skin
10	chr8:57890800-57903600	Weak transcription	Fetal Kidney	kidney
11	chr8:57890800-57904000	Weak transcription	NH-A	brain
12	chr8:57891000-57904600	Weak transcription	Colonic Mucosa	Colon
13	chr8:57891400-57903600	Weak transcription	Fetal Heart	heart
14	chr8:57891600-57903000	Weak transcription	Thymus	Thymus
15	chr8:57891600-57904600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:57892000-57903600	Weak transcription	Brain Germinal Matrix	brain
17	chr8:57892400-57903200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:57892600-57902600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:57892600-57903000	Weak transcription	Fetal Brain Female	brain
20	chr8:57892600-57903600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:57892600-57903600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:57892800-57902400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:57892800-57902600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:57892800-57902800	Weak transcription	HMEC	breast
25	chr8:57892800-57903000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:57892800-57903000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:57892800-57903600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:57892800-57903600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:57892800-57903600	Weak transcription	Fetal Lung	lung
30	chr8:57892800-57904200	Weak transcription	Osteobl	bone
31	chr8:57892800-57904400	Weak transcription	HSMM	muscle
32	chr8:57892800-57904600	Weak transcription	Fetal Intestine Large	intestine
33	chr8:57892800-57904800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:57892800-57904800	Weak transcription	Fetal Thymus	thymus
35	chr8:57892800-57905000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:57893000-57903400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:57893000-57903400	Weak transcription	A549	lung
38	chr8:57893200-57902600	Weak transcription	Placenta	Placenta
39	chr8:57893200-57902800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:57893600-57904200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:57895600-57904600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:57895800-57904600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr8:57896000-57903600	Enhancers	Brain Substantia Nigra	brain
44	chr8:57896200-57903200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:57896200-57905200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:57896200-57905400	Weak transcription	Spleen	Spleen
47	chr8:57896600-57903800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:57896600-57904200	Weak transcription	NHLF	lung
49	chr8:57896600-57904600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr8:57896600-57904600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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