Variant report

Variant	rs7599218
Chromosome Location	chr2:234319154-234319155
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: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
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]
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]
rs7594222	1.00[YRI][hapmap];1.00[AFR][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:88 , 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	chr2:234299200-234319200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:234299200-234319200	Weak transcription	NHEK	skin
8	chr2:234301200-234319800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:234305400-234319200	Weak transcription	HSMM	muscle
10	chr2:234307200-234320200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:234308400-234322200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:234308800-234328400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:234309400-234319200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:234309400-234322000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:234309600-234322200	Weak transcription	Esophagus	oesophagus
16	chr2:234312600-234327400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:234315800-234319400	Weak transcription	HepG2	liver
18	chr2:234316200-234319400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:234316400-234319200	Enhancers	Thymus	Thymus
20	chr2:234316600-234319600	Enhancers	Adipose Nuclei	Adipose
21	chr2:234316600-234319800	Enhancers	Stomach Mucosa	stomach
22	chr2:234316600-234322000	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:234316800-234319200	Enhancers	Fetal Thymus	thymus
24	chr2:234317000-234319600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:234317000-234319600	Enhancers	Fetal Intestine Large	intestine
26	chr2:234317000-234319800	Enhancers	Primary B cells from cord blood	blood
27	chr2:234317000-234320600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:234317000-234327400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr2:234317200-234319200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:234317200-234319200	Enhancers	Left Ventricle	heart
31	chr2:234317200-234319200	Enhancers	Pancreas	Pancrea
32	chr2:234317200-234319200	Enhancers	Dnd41	blood
33	chr2:234317200-234319600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:234317200-234327400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:234317400-234319600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:234317400-234319800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:234317400-234319800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:234317400-234319800	Enhancers	Fetal Intestine Small	intestine
39	chr2:234317600-234319200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:234317600-234319400	Enhancers	Primary hematopoietic stem cells	blood
41	chr2:234317600-234321200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:234317600-234322200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:234317600-234322200	Weak transcription	Fetal Stomach	stomach
44	chr2:234317600-234322400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:234317800-234319200	Weak transcription	Liver	Liver
46	chr2:234317800-234319200	Active TSS	Colonic Mucosa	Colon
47	chr2:234317800-234319400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:234317800-234319600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:234317800-234322200	Weak transcription	Ovary	ovary
50	chr2:234317800-234322200	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links