Variant report

Variant	rs12679713
Chromosome Location	chr8:57885577-57885578
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	chr8:57884164..57885822-chr8:57887000..57889844,2	K562	blood:
2	chr8:57885434..57887541-chr8:57904733..57906957,4	K562	blood:

Variant related genes	Relation type
ENSG00000104331	Chromatin interaction

Extended variants
information (count: 22 )
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[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1046643	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1057407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12676924	0.91[EUR][1000 genomes]
rs13256360	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13257046	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]
rs13265996	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13272145	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]
rs13278306	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13278878	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34162009	0.91[EUR][1000 genomes]
rs35400916	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3739364	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]
rs4738557	0.91[EUR][1000 genomes]
rs56922495	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62511997	0.83[EUR][1000 genomes]
rs62511999	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62512025	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71519474	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[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	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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57866400-57902600	Weak transcription	Pancreas	Pancrea
2	chr8:57866800-57890000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:57868800-57895800	Weak transcription	Spleen	Spleen
4	chr8:57869000-57896000	Weak transcription	Esophagus	oesophagus
5	chr8:57870800-57892000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:57871200-57888400	Weak transcription	HSMMtube	muscle
7	chr8:57872800-57891800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:57872800-57892800	Strong transcription	Dnd41	blood
9	chr8:57874400-57896000	Weak transcription	Right Ventricle	heart
10	chr8:57874600-57890000	Weak transcription	Brain Angular Gyrus	brain
11	chr8:57874800-57889400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:57874800-57892000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:57874800-57896000	Weak transcription	Small Intestine	intestine
14	chr8:57874800-57903800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:57874800-57904400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:57875200-57892400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:57876600-57889800	Weak transcription	Fetal Kidney	kidney
18	chr8:57876600-57903200	Weak transcription	Fetal Brain Male	brain
19	chr8:57876600-57904000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:57877200-57905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:57877400-57889800	Weak transcription	Brain Anterior Caudate	brain
22	chr8:57878400-57887000	Weak transcription	HMEC	breast
23	chr8:57878800-57889200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:57878800-57890000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:57878800-57890000	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:57878800-57890000	Weak transcription	NHDF-Ad	bronchial
27	chr8:57878800-57890200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:57878800-57893400	Weak transcription	Right Atrium	heart
29	chr8:57878800-57895800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:57879000-57889200	Weak transcription	Brain Germinal Matrix	brain
31	chr8:57879000-57889800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:57879000-57889800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:57879000-57889800	Weak transcription	NHLF	lung
34	chr8:57879000-57895800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:57879000-57896000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:57879000-57904600	Weak transcription	Fetal Intestine Small	intestine
37	chr8:57879400-57888600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:57879400-57888800	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:57879400-57890200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr8:57879400-57895800	Weak transcription	Gastric	stomach
41	chr8:57879400-57896000	Weak transcription	Aorta	Aorta
42	chr8:57879600-57889400	Weak transcription	Brain Substantia Nigra	brain
43	chr8:57879600-57890000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:57879600-57890200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:57880000-57888400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:57880000-57888600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:57880000-57889600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:57880000-57889800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:57880200-57887000	Weak transcription	Hela-S3	cervix
50	chr8:57880200-57887800	Weak transcription	Rectal Mucosa Donor 31	rectum

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