Variant report

Variant	rs6711909
Chromosome Location	chr2:37880001-37880002
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37878873..37880892-chr2:37884421..37886893,2	K562	blood:
2	chr2:37879997..37882658-chr2:37898189..37900305,3	MCF-7	breast:
3	chr2:37877539..37880523-chr2:37887000..37889009,2	K562	blood:
4	chr2:37869759..37872018-chr2:37878989..37880854,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163171	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1013291	0.80[ASN][1000 genomes]
rs10694	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs11124594	0.82[ASN][1000 genomes]
rs11124595	0.83[ASN][1000 genomes]
rs11883958	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12469780	0.83[JPT][hapmap]
rs12474331	0.83[JPT][hapmap]
rs12622958	0.83[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13387842	0.84[ASN][1000 genomes]
rs13392288	0.80[ASN][1000 genomes]
rs13406302	0.96[CHB][hapmap];0.84[ASN][1000 genomes]
rs1468663	0.80[ASN][1000 genomes]
rs17021174	0.83[ASN][1000 genomes]
rs2041508	0.85[ASN][1000 genomes]
rs2072419	0.96[CHB][hapmap];0.86[ASN][1000 genomes]
rs2079998	0.80[ASN][1000 genomes]
rs2098198	0.80[ASN][1000 genomes]
rs2109821	0.80[ASN][1000 genomes]
rs2109822	0.80[ASN][1000 genomes]
rs2159726	0.80[ASN][1000 genomes]
rs2191841	0.80[ASN][1000 genomes]
rs2373290	0.80[ASN][1000 genomes]
rs3731852	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs3731854	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs4372883	0.80[ASN][1000 genomes]
rs4594425	0.80[ASN][1000 genomes]
rs4670210	0.91[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs4670211	0.85[ASN][1000 genomes]
rs4670748	0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs56809883	0.86[ASN][1000 genomes]
rs6544095	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs67084656	0.83[ASN][1000 genomes]
rs6709067	0.83[ASN][1000 genomes]
rs6709621	0.81[ASN][1000 genomes]
rs6722589	0.86[ASN][1000 genomes]
rs6740127	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6752119	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6752220	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs6752762	0.85[ASN][1000 genomes]
rs6759224	0.83[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs7607934	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs7735	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs9742	0.91[CHB][hapmap];0.84[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	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
2	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
3	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
4	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
5	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
6	nsv873880	chr2:37868214-37926046	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv535647	chr2:37874563-38014428	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37853600-37897400	Weak transcription	Small Intestine	intestine
2	chr2:37864200-37880200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:37866800-37881000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:37867000-37880600	Genic enhancers	Muscle Satellite Cultured Cells	--
5	chr2:37871400-37880600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:37872000-37892400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:37872200-37881800	Weak transcription	Fetal Kidney	kidney
8	chr2:37872400-37880800	Weak transcription	Fetal Brain Male	brain
9	chr2:37873000-37881400	Enhancers	Right Atrium	heart
10	chr2:37873600-37880200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:37873600-37881000	Weak transcription	Ovary	ovary
12	chr2:37873800-37889000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:37874200-37881600	Genic enhancers	NHLF	lung
14	chr2:37874400-37881600	Enhancers	Psoas Muscle	Psoas
15	chr2:37874400-37883200	Enhancers	Adipose Nuclei	Adipose
16	chr2:37874600-37884000	Enhancers	Fetal Muscle Leg	muscle
17	chr2:37874600-37893000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:37874800-37882000	Enhancers	Left Ventricle	heart
19	chr2:37875200-37881800	Enhancers	Spleen	Spleen
20	chr2:37875200-37882200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:37875400-37881200	Enhancers	Primary B cells from peripheral blood	blood
22	chr2:37875400-37883400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:37875600-37881000	Weak transcription	Fetal Brain Female	brain
24	chr2:37875600-37881200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:37875800-37880400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:37875800-37881000	Weak transcription	Brain Germinal Matrix	brain
27	chr2:37875800-37881600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:37875800-37882000	Enhancers	Right Ventricle	heart
29	chr2:37875800-37883800	Genic enhancers	NHDF-Ad	bronchial
30	chr2:37875800-37884400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:37875800-37891800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:37875800-37893600	Weak transcription	Fetal Intestine Large	intestine
33	chr2:37875800-37896400	Weak transcription	Fetal Intestine Small	intestine
34	chr2:37876000-37880200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:37876000-37880600	Weak transcription	Brain Angular Gyrus	brain
36	chr2:37876000-37881000	Weak transcription	Fetal Lung	lung
37	chr2:37876000-37881000	Genic enhancers	HSMM	muscle
38	chr2:37876000-37881200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:37876000-37882800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr2:37876200-37880200	Enhancers	Primary B cells from cord blood	blood
41	chr2:37876200-37880400	Weak transcription	Aorta	Aorta
42	chr2:37876200-37880800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr2:37876200-37881000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:37876200-37881000	Weak transcription	Thymus	Thymus
45	chr2:37876200-37881200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:37876200-37881400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:37876200-37882600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:37876200-37884400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:37877000-37881000	Genic enhancers	HSMMtube	muscle
50	chr2:37877200-37882600	Enhancers	Colon Smooth Muscle	Colon

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