Variant report

Variant	rs2015743
Chromosome Location	chr1:210516696-210516697
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210515068..210517585-chr1:210541505..210543013,2	K562	blood:
2	chr1:210515744..210518979-chr1:210543495..210546980,6	MCF-7	breast:
3	chr1:210515021..210516831-chr1:210522369..210524888,2	MCF-7	breast:
4	chr1:210509334..210511204-chr1:210515301..210517705,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10489387	0.81[JPT][hapmap]
rs11119480	0.81[JPT][hapmap]
rs1883655	0.85[JPT][hapmap]
rs2103691	0.86[JPT][hapmap]
rs2143590	0.81[ASN][1000 genomes]
rs2294847	0.86[JPT][hapmap]
rs2294848	0.85[JPT][hapmap]
rs3765873	0.81[JPT][hapmap]
rs3765880	0.86[JPT][hapmap]
rs3819987	0.81[JPT][hapmap]
rs589027	0.82[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs590883	0.83[ASN][1000 genomes]
rs6540591	0.81[JPT][hapmap]
rs655213	0.80[ASN][1000 genomes]
rs684767	0.82[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs761172	0.85[JPT][hapmap]
rs764585	0.81[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210503200-210516800	Weak transcription	Lung	lung
2	chr1:210503600-210546800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:210513000-210540400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:210513200-210517800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:210513400-210516800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:210513600-210517600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:210513600-210517800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:210513600-210517800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:210515000-210516800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:210515000-210516800	Weak transcription	Thymus	Thymus
11	chr1:210515200-210516800	Weak transcription	Gastric	stomach
12	chr1:210515200-210517200	Enhancers	Fetal Heart	heart
13	chr1:210515800-210516800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:210515800-210517400	Active TSS	Stomach Smooth Muscle	stomach
15	chr1:210516200-210516800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:210516200-210517200	Enhancers	HepG2	liver
17	chr1:210516200-210517400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:210516400-210516800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:210516400-210516800	Enhancers	Fetal Lung	lung
20	chr1:210516400-210516800	Enhancers	HUVEC	blood vessel
21	chr1:210516400-210517000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:210516400-210517000	Enhancers	Fetal Kidney	kidney
23	chr1:210516400-210517000	Enhancers	HSMMtube	muscle
24	chr1:210516400-210517200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:210516400-210517200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:210516400-210517200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:210516400-210517200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr1:210516400-210517200	Active TSS	Colonic Mucosa	Colon
29	chr1:210516400-210517200	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:210516400-210517200	Active TSS	Ovary	ovary
31	chr1:210516400-210517200	Active TSS	Pancreas	Pancrea
32	chr1:210516400-210517200	Enhancers	Small Intestine	intestine
33	chr1:210516400-210517400	Active TSS	Aorta	Aorta
34	chr1:210516400-210517400	Enhancers	Fetal Thymus	thymus
35	chr1:210516400-210517400	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr1:210516400-210517400	Active TSS	Rectal Smooth Muscle	rectum
37	chr1:210516400-210517400	Flanking Active TSS	Osteobl	bone
38	chr1:210516400-210517600	Flanking Active TSS	GM12878-XiMat	blood
39	chr1:210516400-210517800	Flanking Active TSS	Dnd41	blood
40	chr1:210516600-210516800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:210516600-210516800	Active TSS	Primary B cells from cord blood	blood
42	chr1:210516600-210516800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:210516600-210516800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:210516600-210516800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:210516600-210516800	Active TSS	Adipose Nuclei	Adipose
46	chr1:210516600-210516800	Enhancers	Brain Cingulate Gyrus	brain
47	chr1:210516600-210516800	Active TSS	Brain Hippocampus Middle	brain
48	chr1:210516600-210516800	Enhancers	Brain Substantia Nigra	brain
49	chr1:210516600-210516800	Active TSS	Left Ventricle	heart
50	chr1:210516600-210516800	Active TSS	HMEC	breast

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