Variant report

Variant	rs7588587
Chromosome Location	chr2:234300843-234300844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56836072	0.80[AFR][1000 genomes]
rs59125245	0.95[AFR][1000 genomes]
rs6732036	0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs6738048	0.85[YRI][hapmap]
rs73995910	0.84[AFR][1000 genomes]
rs73995917	0.95[AFR][1000 genomes]
rs73995925	0.80[AFR][1000 genomes]
rs73995926	0.80[AFR][1000 genomes]
rs73995943	0.80[AFR][1000 genomes]
rs7594222	0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs7599218	0.87[YRI][hapmap];0.80[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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234264600-234307600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:234270000-234322400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:234272800-234313200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:234277600-234322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:234289000-234307600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:234293200-234307600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:234293800-234308000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:234293800-234308000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:234294200-234306600	Weak transcription	HMEC	breast
10	chr2:234294600-234318800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:234295400-234305200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:234295400-234313000	Weak transcription	Small Intestine	intestine
13	chr2:234295600-234307600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:234295800-234303400	Weak transcription	Thymus	Thymus
15	chr2:234295800-234308000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:234295800-234318200	Weak transcription	K562	blood
17	chr2:234296400-234307600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:234296600-234303400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:234296600-234304400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:234296600-234307800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:234296800-234305200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:234296800-234305400	Strong transcription	Primary B cells from cord blood	blood
23	chr2:234296800-234305800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:234296800-234307800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:234296800-234308200	Weak transcription	Stomach Mucosa	stomach
26	chr2:234296800-234309000	Weak transcription	Esophagus	oesophagus
27	chr2:234297000-234301200	Strong transcription	Duodenum Mucosa	Duodenum
28	chr2:234297200-234302800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr2:234297200-234303000	Weak transcription	Right Ventricle	heart
30	chr2:234297200-234303600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:234297200-234304600	Weak transcription	HSMM	muscle
32	chr2:234297200-234304800	Weak transcription	HSMMtube	muscle
33	chr2:234297200-234305000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:234297200-234306600	Weak transcription	NH-A	brain
35	chr2:234297200-234307200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:234297200-234307800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:234297200-234307800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:234297200-234307800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:234297200-234308000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:234297200-234308000	Weak transcription	Left Ventricle	heart
41	chr2:234297200-234308800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:234297200-234310600	Weak transcription	Fetal Brain Female	brain
43	chr2:234297200-234310600	Weak transcription	HUVEC	blood vessel
44	chr2:234297200-234311000	Weak transcription	Fetal Brain Male	brain
45	chr2:234297200-234311400	Weak transcription	Brain Substantia Nigra	brain
46	chr2:234297200-234314600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:234297200-234316800	Weak transcription	Aorta	Aorta
48	chr2:234297200-234317000	Weak transcription	Placenta	Placenta
49	chr2:234297200-234317000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:234297200-234317200	Weak transcription	Pancreas	Pancrea

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