Variant report

Variant	rs6753713
Chromosome Location	chr2:97220657-97220658
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97219994..97220686-chr2:97246168..97246725,2	MCF-7	breast:
2	chr2:97214844..97217498-chr2:97219617..97222408,2	K562	blood:
3	chr2:97219791..97220688-chr2:97625661..97626293,2	K562	blood:
4	chr2:97204810..97207371-chr2:97218053..97221683,3	MCF-7	breast:
5	chr2:97220255..97224562-chr2:97226833..97231498,6	MCF-7	breast:
6	chr2:97210607..97212874-chr2:97219219..97220730,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10183164	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185002	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199227	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203766	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10209315	0.82[ASN][1000 genomes]
rs12614696	0.85[TSI][hapmap]
rs13384114	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13389475	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13393729	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13395011	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13398740	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405842	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870340	0.85[TSI][hapmap]
rs2292942	0.94[EUR][1000 genomes]
rs35715176	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35809433	0.83[TSI][hapmap]
rs3731939	0.85[TSI][hapmap]
rs55687728	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55716397	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59398186	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59426746	0.94[EUR][1000 genomes]
rs60326991	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61063398	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6718340	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6732115	1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs6733589	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72939379	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72941209	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72941214	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72941219	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72941235	0.88[EUR][1000 genomes]
rs747757	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7604736	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607990	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97206600-97222200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:97212600-97222400	Weak transcription	K562	blood
3	chr2:97213600-97222200	Weak transcription	NH-A	brain
4	chr2:97214000-97223600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:97214600-97221200	Weak transcription	Fetal Lung	lung
6	chr2:97214600-97222800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:97214800-97222200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:97217200-97222800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:97217600-97222400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:97218200-97222200	Weak transcription	NHLF	lung
11	chr2:97218400-97222200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:97218400-97226600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:97218600-97221200	Weak transcription	Left Ventricle	heart
14	chr2:97218600-97221200	Weak transcription	HSMMtube	muscle
15	chr2:97219200-97220800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:97219200-97220800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:97219200-97222200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:97219400-97220800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:97219400-97221400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:97219600-97220800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr2:97219600-97221400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:97219800-97220800	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:97219800-97220800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:97220000-97220800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:97220000-97220800	Enhancers	Placenta	Placenta
26	chr2:97220000-97220800	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr2:97220000-97220800	Enhancers	HMEC	breast
28	chr2:97220000-97221000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:97220000-97221000	Enhancers	Pancreas	Pancrea
30	chr2:97220000-97221200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr2:97220000-97221400	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:97220000-97221600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr2:97220000-97222200	Enhancers	A549	lung
34	chr2:97220200-97220800	ZNF genes & repeats	Thymus	Thymus
35	chr2:97220200-97221000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:97220400-97220800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:97220400-97221000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:97220400-97221000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr2:97220400-97221200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:97220400-97221200	Enhancers	Psoas Muscle	Psoas
41	chr2:97220400-97221400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:97220400-97221400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:97220400-97222200	Weak transcription	Liver	Liver
44	chr2:97220400-97222200	Weak transcription	Gastric	stomach
45	chr2:97220400-97222400	Weak transcription	HSMM	muscle
46	chr2:97220400-97258000	Weak transcription	Ovary	ovary
47	chr2:97220600-97220800	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr2:97220600-97220800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:97220600-97220800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:97220600-97220800	Enhancers	Hela-S3	cervix

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