Variant report

Variant	rs2037037
Chromosome Location	chr4:90044770-90044771
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:90031135..90034267-chr4:90044647..90046752,4	K562	blood:
2	chr4:90031396..90034227-chr4:90041663..90045608,5	MCF-7	breast:
3	chr4:90036870..90039187-chr4:90043124..90046686,3	MCF-7	breast:
4	chr4:90036910..90039747-chr4:90043122..90045290,2	MCF-7	breast:
5	chr4:90043352..90045261-chr4:90054968..90057885,2	MCF-7	breast:
6	chr4:90043393..90046238-chr4:90047056..90051826,4	K562	blood:

Variant related genes	Relation type
ENSG00000138640	Chromatin interaction
ENSG00000180346	Chromatin interaction
ENSG00000271359	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10009665	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11097214	0.92[ASN][1000 genomes]
rs11097215	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12509747	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12641645	0.86[ASN][1000 genomes]
rs12643834	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12644568	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12646713	0.92[ASN][1000 genomes]
rs12646734	0.92[ASN][1000 genomes]
rs13124770	0.92[ASN][1000 genomes]
rs13148714	0.86[ASN][1000 genomes]
rs1355835	0.86[ASN][1000 genomes]
rs1355838	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1513821	0.85[ASN][1000 genomes]
rs1533291	0.89[JPT][hapmap]
rs1708661	0.89[JPT][hapmap]
rs1708674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1708678	0.89[JPT][hapmap]
rs1708684	0.89[JPT][hapmap]
rs1795721	0.80[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1795731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1795732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1795733	0.89[JPT][hapmap]
rs2037036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458545	0.89[JPT][hapmap]
rs2464517	0.85[ASN][1000 genomes]
rs2670624	0.89[JPT][hapmap]
rs2670625	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2670626	0.89[JPT][hapmap]
rs2670629	0.80[CEU][hapmap];0.89[JPT][hapmap]
rs2670630	0.89[JPT][hapmap]
rs2704597	0.85[ASN][1000 genomes]
rs2869987	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2869988	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2869990	0.86[ASN][1000 genomes]
rs4634189	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4693221	0.82[ASN][1000 genomes]
rs4693983	0.88[ASN][1000 genomes]
rs6532094	0.89[JPT][hapmap]
rs6532099	0.81[ASN][1000 genomes]
rs6532109	0.85[ASN][1000 genomes]
rs6532112	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6833401	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6833424	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6833576	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6835031	0.88[ASN][1000 genomes]
rs6844490	0.89[JPT][hapmap];0.89[AFR][1000 genomes]
rs6854285	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72665891	0.85[ASN][1000 genomes]
rs7440590	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs756175	0.88[ASN][1000 genomes]
rs756176	0.88[ASN][1000 genomes]
rs7691983	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7696844	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs938264	0.88[ASN][1000 genomes]
rs938268	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9991151	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90033400-90048200	Weak transcription	Ovary	ovary
2	chr4:90033400-90049200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:90033600-90045600	Weak transcription	Esophagus	oesophagus
4	chr4:90033600-90045600	Weak transcription	Pancreas	Pancrea
5	chr4:90033600-90049200	Weak transcription	Gastric	stomach
6	chr4:90033600-90052200	Weak transcription	Aorta	Aorta
7	chr4:90034800-90049200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:90036600-90044800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:90037000-90046200	Weak transcription	Primary T cells from cord blood	blood
10	chr4:90041600-90045200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:90042200-90047600	Enhancers	Fetal Intestine Large	intestine
12	chr4:90042400-90044800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:90042600-90049600	Enhancers	Fetal Intestine Small	intestine
14	chr4:90043000-90045200	Enhancers	Stomach Mucosa	stomach
15	chr4:90043200-90045000	Enhancers	NHEK	skin
16	chr4:90043200-90045800	Enhancers	HMEC	breast
17	chr4:90043400-90050200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:90043600-90044800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:90043600-90044800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:90043600-90045200	Flanking Active TSS	HepG2	liver
21	chr4:90043600-90046000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:90043600-90046000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:90043800-90045200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:90043800-90045200	Flanking Active TSS	A549	lung
25	chr4:90043800-90045800	Enhancers	Liver	Liver
26	chr4:90043800-90046000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:90044000-90044800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:90044000-90044800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:90044000-90045000	Enhancers	Brain Substantia Nigra	brain
30	chr4:90044000-90045000	Enhancers	NH-A	brain
31	chr4:90044000-90045400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:90044000-90045800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:90044000-90046000	Enhancers	Duodenum Mucosa	Duodenum
34	chr4:90044200-90045400	Weak transcription	Small Intestine	intestine
35	chr4:90044400-90045000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr4:90044400-90045000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr4:90044400-90045200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:90044400-90046000	Enhancers	Placenta	Placenta
39	chr4:90044600-90044800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:90044600-90045000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:90044600-90045000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:90044600-90045000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr4:90044600-90045800	Enhancers	Rectal Mucosa Donor 29	rectum

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