Variant report

Variant	rs2615
Chromosome Location	chr8:99048329-99048330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99027135..99029691-chr8:99048114..99051016,2	MCF-7	breast:
2	chr8:98879039..98882289-chr8:99048054..99050789,3	MCF-7	breast:
3	chr8:98919911..98922247-chr8:99046173..99048489,2	MCF-7	breast:
4	chr8:98836192..98838039-chr8:99048149..99050956,2	MCF-7	breast:
5	chr8:99038891..99041151-chr8:99046803..99048335,2	MCF-7	breast:
6	chr8:98850183..98852716-chr8:99046783..99048608,2	MCF-7	breast:
7	chr8:99045803..99047373-chr8:99047761..99049281,2	K562	blood:
8	chr8:99043990..99046244-chr8:99047156..99049602,2	MCF-7	breast:
9	chr8:99046565..99048917-chr8:99089595..99092065,2	MCF-7	breast:
10	chr8:98845847..98848474-chr8:99046760..99048415,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf47-2	chr8:99047885-99048386	NONHSAT127893

No data

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1466428	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs1965914	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs2034779	0.85[JPT][hapmap]
rs2248014	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs2255464	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2444873	0.86[ASN][1000 genomes]
rs2444892	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2513809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2513810	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513811	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513852	0.85[CHD][hapmap]

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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 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	chr8:99021200-99053600	Weak transcription	A549	lung
2	chr8:99022400-99055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:99024000-99054800	Weak transcription	Right Ventricle	heart
4	chr8:99024200-99055000	Weak transcription	Fetal Brain Male	brain
5	chr8:99024200-99056000	Weak transcription	Spleen	Spleen
6	chr8:99025000-99052800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:99029000-99053600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:99030600-99053400	Weak transcription	Pancreas	Pancrea
9	chr8:99030600-99056800	Weak transcription	Aorta	Aorta
10	chr8:99031000-99055400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:99033800-99054800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:99033800-99055200	Weak transcription	Small Intestine	intestine
13	chr8:99033800-99055600	Weak transcription	Left Ventricle	heart
14	chr8:99034200-99050800	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:99034200-99054200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:99034200-99054800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:99036400-99048600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:99036800-99053200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:99037200-99049200	Weak transcription	Brain Anterior Caudate	brain
20	chr8:99037200-99053200	Weak transcription	Fetal Intestine Small	intestine
21	chr8:99037600-99052400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:99037600-99054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:99037600-99056400	Weak transcription	Lung	lung
24	chr8:99039000-99048800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr8:99039200-99053000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:99040200-99048600	Weak transcription	NHLF	lung
27	chr8:99041200-99048800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:99041400-99053600	Weak transcription	Psoas Muscle	Psoas
29	chr8:99041600-99051400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr8:99042400-99053000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:99042600-99048800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:99043400-99048600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:99043600-99055400	Weak transcription	Esophagus	oesophagus
34	chr8:99043800-99052400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:99044000-99048800	Strong transcription	Fetal Thymus	thymus
36	chr8:99044200-99048400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:99044200-99048800	Weak transcription	NHEK	skin
38	chr8:99044200-99054400	Weak transcription	Brain Germinal Matrix	brain
39	chr8:99044200-99054400	Weak transcription	HepG2	liver
40	chr8:99044600-99050200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:99044600-99054200	Weak transcription	Fetal Lung	lung
42	chr8:99044800-99052400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:99044800-99052600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:99044800-99052600	Weak transcription	NH-A	brain
45	chr8:99044800-99057000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr8:99045400-99049000	Strong transcription	HSMM	muscle
47	chr8:99045400-99054000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:99045400-99054800	Weak transcription	Stomach Mucosa	stomach
49	chr8:99045600-99056800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:99045800-99048600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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