Variant report

Variant	rs13398944
Chromosome Location	chr2:233614284-233614285
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	chr2:233603140..233605139-chr2:233611874..233614371,3	MCF-7	breast:
2	chr2:233609184..233612039-chr2:233613781..233615296,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10185281	0.83[AMR][1000 genomes]
rs10201344	0.83[AMR][1000 genomes]
rs10205567	0.83[AMR][1000 genomes]
rs10208298	0.83[AMR][1000 genomes]
rs10209652	0.83[AMR][1000 genomes]
rs10221688	0.83[AMR][1000 genomes]
rs12477794	0.81[YRI][hapmap]
rs13382726	0.83[AMR][1000 genomes]
rs13391541	0.87[YRI][hapmap];0.83[AMR][1000 genomes]
rs13399533	0.83[AMR][1000 genomes]
rs13409355	0.83[AMR][1000 genomes]
rs13414498	0.83[AMR][1000 genomes]
rs13420824	0.83[AMR][1000 genomes]
rs13421393	0.83[AMR][1000 genomes]
rs13430365	0.88[YRI][hapmap];0.83[AMR][1000 genomes]
rs28570372	0.83[AMR][1000 genomes]
rs6758241	1.00[CEU][hapmap]
rs7355380	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:233569200-233615000	Weak transcription	Colonic Mucosa	Colon
3	chr2:233569400-233615400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:233571200-233627400	Weak transcription	Gastric	stomach
5	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:233585800-233626000	Weak transcription	Fetal Heart	heart
7	chr2:233587000-233630600	Weak transcription	Psoas Muscle	Psoas
8	chr2:233589600-233619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:233589600-233627000	Weak transcription	Pancreas	Pancrea
10	chr2:233595000-233615600	Weak transcription	Spleen	Spleen
11	chr2:233597200-233627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:233602400-233616000	Weak transcription	Hela-S3	cervix
13	chr2:233602400-233621800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:233602400-233633200	Weak transcription	Aorta	Aorta
15	chr2:233602800-233615600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:233603000-233621200	Weak transcription	Esophagus	oesophagus
17	chr2:233606200-233638400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:233606800-233633200	Weak transcription	Stomach Mucosa	stomach
19	chr2:233606800-233636800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:233609200-233630800	Strong transcription	HepG2	liver
21	chr2:233609400-233615400	Weak transcription	Lung	lung
22	chr2:233610200-233614600	Weak transcription	Fetal Intestine Small	intestine
23	chr2:233611000-233628600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:233611400-233618600	Strong transcription	HUVEC	blood vessel
25	chr2:233611400-233623800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:233611600-233623600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:233611600-233645600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:233611800-233614600	Strong transcription	NHDF-Ad	bronchial
29	chr2:233611800-233617200	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr2:233611800-233620600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:233611800-233622600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:233611800-233623000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:233612000-233614400	Strong transcription	HSMM	muscle
34	chr2:233612000-233614600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:233612000-233614600	Genic enhancers	GM12878-XiMat	blood
36	chr2:233612000-233616200	Strong transcription	Thymus	Thymus
37	chr2:233612000-233616400	Strong transcription	Fetal Intestine Large	intestine
38	chr2:233612000-233617000	Strong transcription	NHLF	lung
39	chr2:233612000-233617200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:233612000-233617200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr2:233612000-233617200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:233612000-233617400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:233612000-233617600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr2:233612000-233618400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:233612000-233618400	Strong transcription	Dnd41	blood
46	chr2:233612000-233618600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr2:233612000-233619200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:233612000-233621400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:233612000-233621600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:233612000-233621800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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