Variant report

Variant	rs7574303
Chromosome Location	chr2:128641375-128641376
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128635469..128637916-chr2:128640003..128642247,2	MCF-7	breast:
2	chr18:33707694..33710165-chr2:128640693..128643375,2	MCF-7	breast:
3	chr2:128615096..128617034-chr2:128639554..128642249,2	MCF-7	breast:
4	chr2:128613232..128619582-chr2:128635761..128644297,14	MCF-7	breast:
5	chr2:128457483..128460955-chr2:128638390..128643796,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173349	Chromatin interaction
ENSG00000134759	Chromatin interaction
ENSG00000144231	Chromatin interaction
ENSG00000141424	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10171898	0.81[ASN][1000 genomes]
rs10210695	0.81[ASN][1000 genomes]
rs11557685	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11674513	0.81[ASN][1000 genomes]
rs11678032	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11692524	1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11693759	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13397060	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421835	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13423029	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17418125	0.81[ASN][1000 genomes]
rs17534053	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17534123	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17599575	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17600177	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3771291	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs56954978	0.81[ASN][1000 genomes]
rs57498556	0.81[ASN][1000 genomes]
rs57913162	0.81[ASN][1000 genomes]
rs57986825	0.81[ASN][1000 genomes]
rs58080260	0.81[ASN][1000 genomes]
rs59009188	0.94[ASN][1000 genomes]
rs59090605	0.81[ASN][1000 genomes]
rs59727076	0.81[ASN][1000 genomes]
rs59918187	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60087786	0.81[ASN][1000 genomes]
rs61187878	0.81[ASN][1000 genomes]
rs61730415	0.81[ASN][1000 genomes]
rs6714620	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6734925	0.81[ASN][1000 genomes]
rs6749005	0.93[CEU][hapmap]
rs6756507	0.81[ASN][1000 genomes]
rs72963794	0.81[ASN][1000 genomes]
rs7560482	0.80[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575961	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7585200	0.81[ASN][1000 genomes]
rs7591477	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7605158	1.00[JPT][hapmap];0.81[ASN][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	esv3368061	chr2:128375044-128672849	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer 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	60 gene(s)	inside rSNPs	diseases
2	nsv834367	chr2:128630791-128790072	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr2:128616200-128641400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:128622800-128642200	Weak transcription	Small Intestine	intestine
3	chr2:128624600-128641600	Weak transcription	Stomach Mucosa	stomach
4	chr2:128625000-128641400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:128628600-128642000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:128629400-128641400	Weak transcription	Fetal Kidney	kidney
7	chr2:128631600-128641600	Weak transcription	Brain Substantia Nigra	brain
8	chr2:128631800-128641600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:128631800-128641600	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:128631800-128642000	Weak transcription	Esophagus	oesophagus
11	chr2:128631800-128642000	Weak transcription	Ovary	ovary
12	chr2:128631800-128642000	Weak transcription	Pancreas	Pancrea
13	chr2:128632200-128642400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:128632400-128641800	Weak transcription	Aorta	Aorta
15	chr2:128632600-128641400	Weak transcription	HSMMtube	muscle
16	chr2:128632600-128641800	Weak transcription	Psoas Muscle	Psoas
17	chr2:128632800-128641400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:128632800-128641400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:128633000-128641800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:128634200-128641800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:128634600-128641600	Strong transcription	Fetal Intestine Large	intestine
22	chr2:128635200-128641800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:128635600-128641400	Strong transcription	HMEC	breast
24	chr2:128635800-128641600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:128635800-128641600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:128635800-128641600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:128635800-128641600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:128636000-128641600	Strong transcription	Osteobl	bone
29	chr2:128636000-128641800	Strong transcription	Placenta	Placenta
30	chr2:128636600-128641600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr2:128636800-128641400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:128636800-128641600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:128636800-128642000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:128637000-128642200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:128637200-128641600	Strong transcription	NH-A	brain
36	chr2:128637400-128641400	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr2:128637400-128641400	Strong transcription	HUVEC	blood vessel
38	chr2:128637400-128641600	Strong transcription	HSMM	muscle
39	chr2:128637400-128641800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:128637400-128642000	Strong transcription	Fetal Thymus	thymus
41	chr2:128637600-128641400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:128638000-128641600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:128638000-128641800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:128638200-128641400	Strong transcription	Fetal Brain Female	brain
45	chr2:128638200-128641800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:128638400-128641800	Weak transcription	Colonic Mucosa	Colon
47	chr2:128638400-128641800	Weak transcription	Right Ventricle	heart
48	chr2:128638400-128642000	Weak transcription	Gastric	stomach
49	chr2:128638400-128642200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:128638600-128641400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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