Variant report

Variant	rs62135589
Chromosome Location	chr2:37861190-37861191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37860354..37862423-chr2:37867033..37868574,2	MCF-7	breast:
2	chr2:37858708..37861309-chr2:37897496..37899960,2	MCF-7	breast:
3	chr2:37853880..37855440-chr2:37859339..37862241,2	K562	blood:
4	chr2:37860309..37862165-chr2:37866082..37868468,2	K562	blood:
5	chr2:37859378..37862018-chr2:37863759..37867582,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-QPCT-3	chr2:37832379-37870742	NONHSAT070127

Variant related genes	Relation type
ENSG00000163171	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13417833	0.85[ASN][1000 genomes]
rs2373292	0.85[ASN][1000 genomes]
rs4670745	0.86[ASN][1000 genomes]
rs727805	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv535645	chr2:37853282-37972640	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv535646	chr2:37853282-38014428	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37853600-37873200	Weak transcription	Liver	Liver
2	chr2:37853600-37897400	Weak transcription	Small Intestine	intestine
3	chr2:37853800-37863400	Weak transcription	Right Ventricle	heart
4	chr2:37854200-37862000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:37854400-37862000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:37855000-37861200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:37857000-37862200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:37857000-37862200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:37857000-37871400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:37857200-37861800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:37857200-37861800	Weak transcription	HMEC	breast
12	chr2:37857200-37862200	Weak transcription	Esophagus	oesophagus
13	chr2:37857200-37865200	Weak transcription	Left Ventricle	heart
14	chr2:37857200-37865800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:37857200-37868200	Weak transcription	Psoas Muscle	Psoas
16	chr2:37857400-37861800	Weak transcription	NHEK	skin
17	chr2:37857400-37862200	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:37858000-37862200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr2:37858000-37868600	Weak transcription	A549	lung
20	chr2:37858400-37867600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:37858800-37862200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:37858800-37871400	Weak transcription	Aorta	Aorta
23	chr2:37859000-37861200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:37859000-37868600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:37859200-37862000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:37859200-37868600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:37859600-37861800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr2:37859600-37865000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:37859800-37861200	Enhancers	HUVEC	blood vessel
30	chr2:37859800-37864200	Weak transcription	Fetal Heart	heart
31	chr2:37860000-37861600	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr2:37860000-37862200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:37860000-37862200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:37860000-37862200	Weak transcription	Right Atrium	heart
35	chr2:37860000-37862200	Weak transcription	NHDF-Ad	bronchial
36	chr2:37860000-37863600	Weak transcription	HSMMtube	muscle
37	chr2:37860000-37871200	Weak transcription	Gastric	stomach
38	chr2:37860200-37861200	Weak transcription	Primary T cells from cord blood	blood
39	chr2:37860200-37861800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr2:37860200-37862200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:37860200-37864800	Enhancers	Primary hematopoietic stem cells	blood
42	chr2:37860200-37864800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr2:37860200-37866800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr2:37860200-37868600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:37860400-37864800	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr2:37860400-37865600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr2:37860400-37865600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:37860400-37867400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr2:37860600-37861800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:37860600-37861800	Enhancers	Monocytes-CD14+_RO01746	blood

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