Variant report

Variant	rs2706816
Chromosome Location	chr2:37250551-37250552
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	chr2:37250519..37253429-chr2:85770477..85772159,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1015599	1.00[EUR][1000 genomes]
rs1019311	1.00[EUR][1000 genomes]
rs11124550	1.00[EUR][1000 genomes]
rs11892892	1.00[EUR][1000 genomes]
rs11896317	1.00[EUR][1000 genomes]
rs2110943	1.00[EUR][1000 genomes]
rs2160378	1.00[EUR][1000 genomes]
rs2247610	1.00[EUR][1000 genomes]
rs2540921	1.00[EUR][1000 genomes]
rs2540927	1.00[EUR][1000 genomes]
rs2540928	1.00[EUR][1000 genomes]
rs2540932	1.00[EUR][1000 genomes]
rs2540935	1.00[EUR][1000 genomes]
rs2540938	1.00[EUR][1000 genomes]
rs2541003	1.00[EUR][1000 genomes]
rs2541005	1.00[EUR][1000 genomes]
rs2691103	1.00[EUR][1000 genomes]
rs2691108	1.00[EUR][1000 genomes]
rs2691113	1.00[EUR][1000 genomes]
rs2691117	1.00[EUR][1000 genomes]
rs2691121	1.00[EUR][1000 genomes]
rs2706810	1.00[EUR][1000 genomes]
rs2706812	1.00[EUR][1000 genomes]
rs2717498	1.00[EUR][1000 genomes]
rs2717499	1.00[EUR][1000 genomes]
rs2717502	1.00[EUR][1000 genomes]
rs2717504	1.00[EUR][1000 genomes]
rs2717506	1.00[EUR][1000 genomes]
rs2717513	1.00[EUR][1000 genomes]
rs2717514	1.00[EUR][1000 genomes]
rs2717515	1.00[EUR][1000 genomes]
rs2717517	1.00[EUR][1000 genomes]
rs2717521	1.00[EUR][1000 genomes]
rs2949393	1.00[EUR][1000 genomes]
rs61085492	1.00[EUR][1000 genomes]
rs61561618	1.00[EUR][1000 genomes]
rs6708710	1.00[EUR][1000 genomes]
rs6734109	1.00[EUR][1000 genomes]
rs6738016	1.00[EUR][1000 genomes]
rs6750356	0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6758058	1.00[EUR][1000 genomes]
rs723674	1.00[EUR][1000 genomes]
rs73924930	1.00[EUR][1000 genomes]
rs73924969	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73924971	1.00[EUR][1000 genomes]
rs73924989	1.00[EUR][1000 genomes]
rs7593630	1.00[EUR][1000 genomes]
rs964853	1.00[EUR][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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv581471	chr2:37213186-37257386	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv581472	chr2:37235324-37291320	Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1820206	chr2:37236821-37277811	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37195200-37252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:37209000-37290200	Weak transcription	Small Intestine	intestine
3	chr2:37219200-37256400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:37223400-37282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr2:37224000-37256000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:37224000-37270600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:37226800-37256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:37228600-37267000	Weak transcription	Stomach Mucosa	stomach
11	chr2:37229800-37251200	Weak transcription	K562	blood
12	chr2:37232800-37251000	Weak transcription	Brain Substantia Nigra	brain
13	chr2:37233000-37253000	Weak transcription	NHEK	skin
14	chr2:37237600-37255400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:37238200-37255200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:37238400-37260800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:37238800-37251800	Strong transcription	Placenta	Placenta
18	chr2:37240200-37260800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:37240400-37254200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:37240400-37304800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:37240600-37306000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:37240800-37281800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:37240800-37306400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:37240800-37307000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:37241000-37272600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:37241200-37253000	Weak transcription	Fetal Kidney	kidney
27	chr2:37241200-37253000	Weak transcription	HMEC	breast
28	chr2:37241200-37256600	Weak transcription	Gastric	stomach
29	chr2:37241200-37306000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr2:37241400-37299600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr2:37242000-37287000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:37242200-37250800	Strong transcription	Fetal Intestine Large	intestine
33	chr2:37242200-37253200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:37242200-37265800	Strong transcription	Liver	Liver
35	chr2:37242200-37305800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:37242800-37256200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:37243000-37253200	Weak transcription	Brain Angular Gyrus	brain
38	chr2:37244200-37255200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:37244600-37256200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:37244800-37256000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:37245000-37261400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr2:37245400-37260000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:37246000-37253200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:37246000-37253200	Weak transcription	Dnd41	blood
45	chr2:37246200-37253200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:37246200-37283000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:37246400-37253200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:37246800-37251400	Weak transcription	Fetal Brain Male	brain
49	chr2:37246800-37279800	Weak transcription	Pancreas	Pancrea
50	chr2:37247000-37279200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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