Variant report

Variant	rs57048603
Chromosome Location	chr2:37858552-37858553
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	chr2:37853940..37855732-chr2:37858093..37860839,2	K562	blood:

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12469780	0.87[AMR][1000 genomes]
rs12474331	0.90[AMR][1000 genomes]
rs3926381	0.86[EUR][1000 genomes];0.86[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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37850800-37860600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:37852800-37859600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:37853600-37873200	Weak transcription	Liver	Liver
4	chr2:37853600-37897400	Weak transcription	Small Intestine	intestine
5	chr2:37853800-37859600	Weak transcription	Pancreas	Pancrea
6	chr2:37853800-37860600	Weak transcription	Spleen	Spleen
7	chr2:37853800-37863400	Weak transcription	Right Ventricle	heart
8	chr2:37854200-37859600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:37854200-37860000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:37854200-37860200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:37854200-37861000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:37854200-37862000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:37854400-37860200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:37854400-37860400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:37854400-37862000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:37854800-37858800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:37855000-37861200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:37855200-37859600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:37855400-37860600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:37855400-37861000	Weak transcription	Fetal Thymus	thymus
21	chr2:37855800-37860400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:37856000-37859000	Enhancers	NHDF-Ad	bronchial
23	chr2:37856400-37859200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:37856400-37860000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:37856400-37860800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:37857000-37858600	Weak transcription	Aorta	Aorta
27	chr2:37857000-37859000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr2:37857000-37859600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:37857000-37860400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:37857000-37862200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:37857000-37862200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:37857000-37871400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:37857200-37858800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:37857200-37859400	Weak transcription	NH-A	brain
35	chr2:37857200-37861800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:37857200-37861800	Weak transcription	HMEC	breast
37	chr2:37857200-37862200	Weak transcription	Esophagus	oesophagus
38	chr2:37857200-37865200	Weak transcription	Left Ventricle	heart
39	chr2:37857200-37865800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:37857200-37868200	Weak transcription	Psoas Muscle	Psoas
41	chr2:37857400-37858600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr2:37857400-37859600	Weak transcription	NHLF	lung
43	chr2:37857400-37860800	Enhancers	Osteobl	bone
44	chr2:37857400-37861800	Weak transcription	NHEK	skin
45	chr2:37857400-37862200	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:37857800-37858800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:37857800-37859600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:37858000-37859800	Enhancers	Fetal Heart	heart
49	chr2:37858000-37862200	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr2:37858000-37868600	Weak transcription	A549	lung

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