Variant report

Variant	rs1396115
Chromosome Location	chr8:57874064-57874065
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	chr8:57869598..57872187-chr8:57872498..57874504,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10003	0.82[ASW][hapmap];0.83[CEU][hapmap]
rs1044731	0.82[ASW][hapmap]
rs10504211	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10504212	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10808910	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10958514	0.91[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10958515	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11778484	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11779511	0.85[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12678538	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13258916	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13275472	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277865	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1396116	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396117	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1605556	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16921462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16921483	0.84[AFR][1000 genomes]
rs16921485	0.84[AFR][1000 genomes]
rs2135987	0.91[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34020186	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36065736	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4738558	0.91[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55659168	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs967930	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57863400-57874800	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:57863800-57878200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:57866400-57876200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:57866400-57878600	Weak transcription	Ovary	ovary
5	chr8:57866400-57902600	Weak transcription	Pancreas	Pancrea
6	chr8:57866600-57874800	Weak transcription	Placenta	Placenta
7	chr8:57866600-57875400	Weak transcription	Fetal Lung	lung
8	chr8:57866600-57876000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:57866600-57876400	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:57866800-57874600	Weak transcription	HSMM	muscle
11	chr8:57866800-57875200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:57866800-57876000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:57866800-57876200	Weak transcription	Left Ventricle	heart
14	chr8:57866800-57880800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:57866800-57890000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:57867000-57876200	Weak transcription	Brain Germinal Matrix	brain
17	chr8:57867000-57876200	Weak transcription	Thymus	Thymus
18	chr8:57867600-57875600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:57867600-57881400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:57867800-57874600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:57868000-57875400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:57868400-57876200	Weak transcription	Psoas Muscle	Psoas
23	chr8:57868400-57878600	Weak transcription	Aorta	Aorta
24	chr8:57868600-57875000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:57868600-57876200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:57868600-57878400	Weak transcription	Fetal Brain Female	brain
27	chr8:57868800-57876200	Weak transcription	Fetal Intestine Small	intestine
28	chr8:57868800-57876200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:57868800-57878400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:57868800-57895800	Weak transcription	Spleen	Spleen
31	chr8:57869000-57874800	Weak transcription	GM12878-XiMat	blood
32	chr8:57869000-57896000	Weak transcription	Esophagus	oesophagus
33	chr8:57869400-57874600	Weak transcription	Fetal Thymus	thymus
34	chr8:57869400-57875000	Weak transcription	Hela-S3	cervix
35	chr8:57869400-57875400	Weak transcription	NHDF-Ad	bronchial
36	chr8:57869400-57881800	Weak transcription	Stomach Mucosa	stomach
37	chr8:57869600-57875400	Weak transcription	Fetal Kidney	kidney
38	chr8:57869800-57874400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:57869800-57876200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:57870000-57876000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:57870400-57880600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:57870600-57874400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:57870600-57874600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr8:57870600-57876200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:57870600-57876200	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:57870800-57876200	Weak transcription	K562	blood
47	chr8:57870800-57878200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:57870800-57880200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:57870800-57892000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:57871000-57874200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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