Variant report

Variant	rs7594222
Chromosome Location	chr2:234319362-234319363
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234263404..234265699-chr2:234319043..234321996,3	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10182818	1.00[EUR][1000 genomes]
rs13389374	1.00[EUR][1000 genomes]
rs13390054	1.00[EUR][1000 genomes]
rs13395852	1.00[EUR][1000 genomes]
rs13398912	1.00[EUR][1000 genomes]
rs13401703	1.00[EUR][1000 genomes]
rs13403667	1.00[EUR][1000 genomes]
rs13406202	1.00[EUR][1000 genomes]
rs28968515	1.00[EUR][1000 genomes]
rs56836072	1.00[AFR][1000 genomes]
rs58963596	0.95[AFR][1000 genomes]
rs60732790	0.86[AFR][1000 genomes]
rs6709877	0.86[AFR][1000 genomes]
rs6732036	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6738048	1.00[YRI][hapmap]
rs73121108	1.00[EUR][1000 genomes]
rs73123128	1.00[EUR][1000 genomes]
rs73123133	1.00[EUR][1000 genomes]
rs73123137	1.00[EUR][1000 genomes]
rs73123148	1.00[EUR][1000 genomes]
rs73123150	1.00[EUR][1000 genomes]
rs73995925	1.00[AFR][1000 genomes]
rs73995926	1.00[AFR][1000 genomes]
rs73995943	1.00[AFR][1000 genomes]
rs73995952	0.95[AFR][1000 genomes]
rs73995953	0.95[AFR][1000 genomes]
rs73995954	0.95[AFR][1000 genomes]
rs73996123	0.80[AFR][1000 genomes]
rs73996126	0.80[AFR][1000 genomes]
rs73997605	0.86[AFR][1000 genomes]
rs73997609	0.91[AFR][1000 genomes]
rs73997632	0.91[AFR][1000 genomes]
rs73997636	0.91[AFR][1000 genomes]
rs7562104	0.91[AFR][1000 genomes]
rs7588587	0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs7599218	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9287602	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234270000-234322400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:234277600-234322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:234297200-234319400	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:234297200-234322000	Weak transcription	Hela-S3	cervix
5	chr2:234297200-234322200	Weak transcription	Brain Anterior Caudate	brain
6	chr2:234301200-234319800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:234307200-234320200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:234308400-234322200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:234308800-234328400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:234309400-234322000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:234309600-234322200	Weak transcription	Esophagus	oesophagus
12	chr2:234312600-234327400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:234315800-234319400	Weak transcription	HepG2	liver
14	chr2:234316200-234319400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr2:234316600-234319600	Enhancers	Adipose Nuclei	Adipose
16	chr2:234316600-234319800	Enhancers	Stomach Mucosa	stomach
17	chr2:234316600-234322000	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:234317000-234319600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:234317000-234319600	Enhancers	Fetal Intestine Large	intestine
20	chr2:234317000-234319800	Enhancers	Primary B cells from cord blood	blood
21	chr2:234317000-234320600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:234317000-234327400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr2:234317200-234319600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:234317200-234327400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:234317400-234319600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:234317400-234319800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:234317400-234319800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:234317400-234319800	Enhancers	Fetal Intestine Small	intestine
29	chr2:234317600-234319400	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:234317600-234321200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:234317600-234322200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:234317600-234322200	Weak transcription	Fetal Stomach	stomach
33	chr2:234317600-234322400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:234317800-234319400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:234317800-234319600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:234317800-234322200	Weak transcription	Ovary	ovary
37	chr2:234317800-234322200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:234317800-234322800	Weak transcription	Gastric	stomach
39	chr2:234317800-234327400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:234318000-234319400	Enhancers	HUVEC	blood vessel
41	chr2:234318000-234319600	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:234318000-234319800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:234318200-234319600	Enhancers	K562	blood
44	chr2:234318200-234319800	Enhancers	Fetal Heart	heart
45	chr2:234318600-234319400	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr2:234318600-234319400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr2:234318800-234319800	Genic enhancers	Primary B cells from peripheral blood	blood
48	chr2:234318800-234319800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:234318800-234321200	Weak transcription	Osteobl	bone
50	chr2:234318800-234321400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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