Variant report

Variant	rs1991626
Chromosome Location	chr2:32602450-32602451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32601154..32603764-chr2:32615898..32618109,2	MCF-7	breast:
2	chr2:32601960..32603780-chr2:32628492..32630204,2	MCF-7	breast:
3	chr2:32581180..32584543-chr2:32601759..32603937,3	MCF-7	breast:
4	chr2:32596888..32599492-chr2:32600757..32603688,2	K562	blood:
5	chr2:32598274..32601505-chr2:32601760..32604443,3	K562	blood:

Variant related genes	Relation type
ENSG00000115760	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1033751	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs1153121	0.90[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs12612824	0.92[CHD][hapmap]
rs13409142	0.84[CHD][hapmap]
rs17428810	0.84[CHD][hapmap]
rs176404	0.80[ASN][1000 genomes]
rs176410	0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.86[ASN][1000 genomes]
rs176411	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs176413	0.82[ASN][1000 genomes]
rs2038534	0.89[GIH][hapmap];0.81[YRI][hapmap]
rs2038537	0.87[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs4952212	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4952262	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6760040	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv2751888	chr2:32539236-33331549	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv516173	chr2:32541438-33329957	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	esv2763243	chr2:32567339-33331778	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32583600-32607200	Weak transcription	Placenta	Placenta
2	chr2:32583600-32623000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:32583600-32653200	Weak transcription	Gastric	stomach
4	chr2:32583800-32605600	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:32583800-32649000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:32584200-32605600	Weak transcription	Thymus	Thymus
7	chr2:32584600-32607000	Weak transcription	HMEC	breast
8	chr2:32584600-32609000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:32584800-32606400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:32585000-32607200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:32585200-32607200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:32585400-32602600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:32585400-32607000	Weak transcription	Hela-S3	cervix
14	chr2:32585400-32607400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:32585400-32609000	Weak transcription	NHEK	skin
16	chr2:32585800-32602600	Weak transcription	Fetal Lung	lung
17	chr2:32585800-32605800	Weak transcription	HSMM	muscle
18	chr2:32585800-32607200	Weak transcription	NH-A	brain
19	chr2:32585800-32609000	Weak transcription	Fetal Brain Female	brain
20	chr2:32586000-32602600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:32586200-32605400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:32587000-32605200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:32587200-32604000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:32587200-32604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:32587200-32605000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:32587200-32605200	Weak transcription	Dnd41	blood
27	chr2:32587400-32604600	Weak transcription	Fetal Thymus	thymus
28	chr2:32587400-32608600	Weak transcription	Brain Germinal Matrix	brain
29	chr2:32590000-32607200	Weak transcription	Primary B cells from cord blood	blood
30	chr2:32590200-32607200	Weak transcription	HUVEC	blood vessel
31	chr2:32590400-32603000	Weak transcription	Small Intestine	intestine
32	chr2:32592800-32603000	Weak transcription	Aorta	Aorta
33	chr2:32592800-32609600	Weak transcription	Spleen	Spleen
34	chr2:32593000-32605400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:32593000-32607400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:32593200-32603200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:32593400-32606800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:32593400-32607200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:32593400-32609800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:32593600-32606200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:32594000-32606000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr2:32595000-32603000	Weak transcription	Pancreas	Pancrea
43	chr2:32595200-32609000	Weak transcription	Ovary	ovary
44	chr2:32595800-32609400	Weak transcription	Brain Substantia Nigra	brain
45	chr2:32596000-32603200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:32597200-32605400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:32598400-32604200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr2:32598800-32604800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:32598800-32605200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:32599000-32602600	Weak transcription	K562	blood

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