Variant report

Variant	rs543593034
Chromosome Location	chr2:37789343-37789344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37779367..37783955-chr2:37786259..37791654,6	K562	blood:
2	chr2:37786608..37790547-chr2:37791244..37795872,7	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv3353978	chr2:37788972-37789366	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37781400-37791200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:37783400-37790800	Weak transcription	Primary T cells from cord blood	blood
3	chr2:37783400-37795600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:37784000-37789400	Enhancers	GM12878-XiMat	blood
5	chr2:37786800-37790200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr2:37787000-37790200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:37787200-37790400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:37787400-37789400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr2:37787400-37790400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:37787400-37790800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:37787400-37791600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:37787400-37792000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:37787600-37790000	Enhancers	HMEC	breast
14	chr2:37787600-37791000	Enhancers	HUVEC	blood vessel
15	chr2:37787600-37793400	Enhancers	NHDF-Ad	bronchial
16	chr2:37787800-37789600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:37788000-37789600	Enhancers	HSMM	muscle
18	chr2:37788000-37790200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:37788000-37790200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:37788000-37790800	Enhancers	NHEK	skin
21	chr2:37788000-37791400	Enhancers	Osteobl	bone
22	chr2:37788200-37792000	Enhancers	NHLF	lung
23	chr2:37788400-37789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:37788400-37789600	Flanking Active TSS	A549	lung
25	chr2:37788400-37789800	Flanking Active TSS	K562	blood
26	chr2:37788400-37794800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:37788600-37789400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:37788600-37791200	Enhancers	Hela-S3	cervix
29	chr2:37788600-37791400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:37788800-37789600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:37788800-37789600	Enhancers	Right Atrium	heart
32	chr2:37789000-37789400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:37789000-37789400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:37789000-37789400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:37789000-37789600	Enhancers	Fetal Brain Male	brain
36	chr2:37789000-37790200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:37789000-37790800	Enhancers	HSMMtube	muscle
38	chr2:37789000-37791800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:37789200-37789400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr2:37789200-37789400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:37789200-37789400	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:37789200-37789600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr2:37789200-37789600	Flanking Active TSS	NH-A	brain
44	chr2:37789200-37790000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:37789200-37790200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:37789200-37790200	Weak transcription	Thymus	Thymus
47	chr2:37789200-37790400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:37789200-37790400	Weak transcription	Fetal Thymus	thymus
49	chr2:37789200-37790800	Weak transcription	Ovary	ovary
50	chr2:37789200-37793400	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links