Variant report

Variant	rs6722763
Chromosome Location	chr2:234282210-234282211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234282165..234285596-chr2:234285963..234289154,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201013	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10153744	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1048603	0.85[CHB][hapmap]
rs11675531	0.83[ASN][1000 genomes]
rs11679008	0.83[ASN][1000 genomes]
rs11679773	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11681604	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs13413505	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13417044	0.86[EUR][1000 genomes]
rs2290464	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs2305542	0.83[CEU][hapmap];0.85[CHB][hapmap];0.81[TSI][hapmap]
rs28373304	0.91[EUR][1000 genomes]
rs2971855	0.85[CHB][hapmap]
rs4663699	0.85[CHB][hapmap]
rs55684040	0.83[ASN][1000 genomes]
rs55693723	0.83[ASN][1000 genomes]
rs55804614	0.83[ASN][1000 genomes]
rs55983182	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56082182	0.83[ASN][1000 genomes]
rs58373601	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6431364	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714168	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs6739757	0.93[EUR][1000 genomes]
rs6759246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72978374	0.83[ASN][1000 genomes]
rs72978375	0.83[ASN][1000 genomes]
rs7566221	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568534	0.94[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap]
rs7573866	0.85[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs7576633	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598771	0.86[MEX][hapmap]
rs838546	0.85[CHB][hapmap]
rs838547	0.85[CHB][hapmap]
rs838554	0.85[CHB][hapmap]

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	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription 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	10 gene(s)	inside rSNPs	diseases
4	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv1820563	chr2:234263212-234282210	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234264400-234287200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:234264600-234290800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:234264600-234307600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:234264800-234289200	Weak transcription	Esophagus	oesophagus
5	chr2:234264800-234292800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:234265000-234283800	Weak transcription	Thymus	Thymus
7	chr2:234265000-234295000	Weak transcription	Osteobl	bone
8	chr2:234265200-234284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:234265200-234295000	Weak transcription	NH-A	brain
10	chr2:234265800-234283800	Weak transcription	Colonic Mucosa	Colon
11	chr2:234265800-234289400	Weak transcription	Hela-S3	cervix
12	chr2:234265800-234293000	Weak transcription	HMEC	breast
13	chr2:234266000-234292400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:234266000-234292600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:234266000-234293000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:234266400-234294000	Weak transcription	Fetal Brain Male	brain
17	chr2:234268400-234293400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:234268800-234283400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:234269200-234293400	Weak transcription	Right Atrium	heart
20	chr2:234270000-234287600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:234270000-234322400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:234270200-234284000	Weak transcription	Psoas Muscle	Psoas
23	chr2:234270200-234288800	Weak transcription	Right Ventricle	heart
24	chr2:234270400-234284200	Weak transcription	Fetal Intestine Large	intestine
25	chr2:234272800-234284200	Weak transcription	Liver	Liver
26	chr2:234272800-234284200	Weak transcription	Fetal Lung	lung
27	chr2:234272800-234288600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:234272800-234313200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:234273000-234292200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:234273600-234282600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:234274000-234295200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:234275000-234289800	Weak transcription	Pancreas	Pancrea
33	chr2:234275200-234288000	Weak transcription	Lung	lung
34	chr2:234276800-234285200	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr2:234276800-234285400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:234277200-234292600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:234277600-234322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:234278600-234287800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:234278600-234288600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:234278600-234291400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:234278600-234292200	Weak transcription	Ovary	ovary
42	chr2:234278600-234292800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:234278600-234292800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:234278600-234293000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:234278600-234293600	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:234278600-234293800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:234278600-234294000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:234278600-234294000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:234278800-234293000	Weak transcription	Brain Substantia Nigra	brain
50	chr2:234279000-234292600	Weak transcription	NHEK	skin

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