Variant report

Variant	rs4150523
Chromosome Location	chr2:128015143-128015144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128014397..128016921-chr2:128019459..128021015,2	K562	blood:
2	chr2:128013491..128017677-chr2:128048159..128051668,4	MCF-7	breast:
3	chr2:128014970..128016658-chr2:128040574..128042707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163161	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1011019	1.00[CHB][hapmap]
rs10496661	1.00[ASN][1000 genomes]
rs10850	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11679414	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11680877	1.00[ASN][1000 genomes]
rs11683986	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11691916	1.00[ASN][1000 genomes]
rs11692990	1.00[ASN][1000 genomes]
rs13030463	1.00[ASN][1000 genomes]
rs1504135	1.00[ASN][1000 genomes]
rs1518760	1.00[ASN][1000 genomes]
rs1568278	1.00[ASN][1000 genomes]
rs17014873	1.00[CHB][hapmap]
rs17261845	1.00[ASN][1000 genomes]
rs17261859	1.00[ASN][1000 genomes]
rs2069895	1.00[ASN][1000 genomes]
rs2069898	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2069902	1.00[ASN][1000 genomes]
rs2069904	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2069919	1.00[ASN][1000 genomes]
rs2896979	1.00[ASN][1000 genomes]
rs3958415	1.00[ASN][1000 genomes]
rs4150400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150402	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4150416	1.00[ASN][1000 genomes]
rs4150471	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4150474	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4150499	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4662713	1.00[ASN][1000 genomes]
rs4662718	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4662719	1.00[ASN][1000 genomes]
rs4662720	1.00[ASN][1000 genomes]
rs55998444	1.00[ASN][1000 genomes]
rs56273408	1.00[ASN][1000 genomes]
rs5937	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs59378658	1.00[ASN][1000 genomes]
rs61422716	1.00[ASN][1000 genomes]
rs6430933	1.00[ASN][1000 genomes]
rs6430936	1.00[ASN][1000 genomes]
rs6430938	1.00[ASN][1000 genomes]
rs6733478	1.00[ASN][1000 genomes]
rs6738690	1.00[ASN][1000 genomes]
rs72845944	1.00[ASN][1000 genomes]
rs72845975	1.00[ASN][1000 genomes]
rs72845976	1.00[ASN][1000 genomes]
rs72845991	1.00[ASN][1000 genomes]
rs72845993	1.00[ASN][1000 genomes]
rs72845997	1.00[ASN][1000 genomes]
rs72846002	1.00[ASN][1000 genomes]
rs72848604	1.00[ASN][1000 genomes]
rs72848612	1.00[ASN][1000 genomes]
rs72848615	1.00[ASN][1000 genomes]
rs72848616	1.00[ASN][1000 genomes]
rs72848618	1.00[ASN][1000 genomes]
rs7556675	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7562428	1.00[ASN][1000 genomes]
rs7607907	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128002400-128015800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:128003000-128016400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:128005000-128016400	Weak transcription	Fetal Kidney	kidney
4	chr2:128005400-128016200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:128007600-128015800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:128011800-128015800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:128011800-128017200	Weak transcription	Small Intestine	intestine
8	chr2:128012400-128015600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:128012400-128016800	Weak transcription	NHDF-Ad	bronchial
10	chr2:128012400-128028000	Weak transcription	Hela-S3	cervix
11	chr2:128012600-128015800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:128012600-128026200	Weak transcription	Stomach Mucosa	stomach
13	chr2:128012800-128016800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:128012800-128019600	Strong transcription	GM12878-XiMat	blood
15	chr2:128012800-128020800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:128013000-128015400	Strong transcription	Pancreas	Pancrea
17	chr2:128013000-128020200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:128013000-128020600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:128013000-128020600	Strong transcription	Fetal Brain Female	brain
20	chr2:128013000-128020600	Strong transcription	Dnd41	blood
21	chr2:128013000-128020800	Strong transcription	Fetal Intestine Large	intestine
22	chr2:128013000-128021200	Strong transcription	Primary T cells from cord blood	blood
23	chr2:128013000-128021800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:128013200-128016000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:128013200-128016000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:128013200-128016000	Weak transcription	Brain Substantia Nigra	brain
27	chr2:128013200-128016000	Weak transcription	K562	blood
28	chr2:128013200-128018400	Weak transcription	Psoas Muscle	Psoas
29	chr2:128013200-128019000	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr2:128013200-128019000	Strong transcription	Ovary	ovary
31	chr2:128013200-128020400	Strong transcription	HepG2	liver
32	chr2:128013200-128020600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:128013200-128020800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr2:128013400-128017000	Strong transcription	Esophagus	oesophagus
35	chr2:128013400-128018800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:128013400-128018800	Strong transcription	Gastric	stomach
37	chr2:128013400-128018800	Strong transcription	Right Ventricle	heart
38	chr2:128013400-128018800	Strong transcription	Spleen	Spleen
39	chr2:128013400-128019000	Strong transcription	Adipose Nuclei	Adipose
40	chr2:128013400-128019000	Strong transcription	Aorta	Aorta
41	chr2:128013400-128019000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:128013400-128019200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:128013400-128019400	Strong transcription	Fetal Stomach	stomach
44	chr2:128013400-128019600	Strong transcription	Placenta	Placenta
45	chr2:128013400-128020000	Strong transcription	Lung	lung
46	chr2:128013400-128020200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:128013400-128020200	Strong transcription	Fetal Intestine Small	intestine
48	chr2:128013400-128020200	Strong transcription	Thymus	Thymus
49	chr2:128013400-128020600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:128013400-128020600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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