Variant report

Variant	rs537670
Chromosome Location	chr2:234743450-234743451
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234742234..234744702-chr2:234763144..234764727,2	MCF-7	breast:
2	2:234492023-234494396..2:234743181-234749667	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000123485	Chromatin interaction
ENSG00000228949	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs213548	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs213551	0.96[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2361506	0.84[AFR][1000 genomes]
rs3806589	0.91[ASN][1000 genomes]
rs6431642	0.91[ASN][1000 genomes]
rs7588690	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv876020	chr2:234724225-234748814	Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv876021	chr2:234725819-234748814	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv876022	chr2:234726154-234748814	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv876023	chr2:234726154-234763137	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
7	nsv1008316	chr2:234728911-234758539	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234736400-234762600	Weak transcription	Right Atrium	heart
2	chr2:234738200-234744000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:234738200-234762000	Weak transcription	Esophagus	oesophagus
4	chr2:234738800-234744000	Weak transcription	NHLF	lung
5	chr2:234739400-234744000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:234739600-234747600	Weak transcription	Brain Germinal Matrix	brain
7	chr2:234739800-234752800	Weak transcription	Spleen	Spleen
8	chr2:234740000-234760000	Strong transcription	Thymus	Thymus
9	chr2:234740200-234761000	Weak transcription	Primary B cells from cord blood	blood
10	chr2:234740400-234762200	Weak transcription	Primary T cells from cord blood	blood
11	chr2:234740600-234743600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:234741000-234743800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:234741200-234744400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:234741200-234759800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:234741400-234744600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:234741600-234743800	Weak transcription	Osteobl	bone
17	chr2:234741600-234744200	Enhancers	Fetal Brain Male	brain
18	chr2:234741600-234746200	Strong transcription	Dnd41	blood
19	chr2:234741800-234746400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:234741800-234750400	Weak transcription	Fetal Kidney	kidney
21	chr2:234741800-234762000	Weak transcription	Gastric	stomach
22	chr2:234742000-234743600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:234742000-234743600	Weak transcription	Fetal Intestine Small	intestine
24	chr2:234742000-234743600	Weak transcription	NH-A	brain
25	chr2:234742000-234747400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:234742000-234759600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:234742200-234744600	Weak transcription	Fetal Lung	lung
28	chr2:234742200-234749200	Weak transcription	Placenta	Placenta
29	chr2:234742200-234750000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:234742200-234759400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:234742200-234760400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:234742200-234762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr2:234742400-234744400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:234742400-234747200	Genic enhancers	A549	lung
35	chr2:234742400-234747400	Strong transcription	Fetal Thymus	thymus
36	chr2:234742600-234745600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:234742600-234745600	Strong transcription	GM12878-XiMat	blood
38	chr2:234742600-234745600	Strong transcription	HSMM	muscle
39	chr2:234742600-234745800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:234742600-234746400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:234742600-234747600	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr2:234742600-234747800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:234742600-234748400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:234742600-234759600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:234742600-234759800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr2:234742600-234760400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:234742600-234760600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:234742600-234760600	Strong transcription	NHEK	skin
49	chr2:234742600-234760800	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr2:234742800-234744200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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