Variant report

Variant	rs28593131
Chromosome Location	chr2:37078354-37078355
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	chr2:37077524..37079091-chr2:37080598..37082395,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10166375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174832	1.00[EUR][1000 genomes]
rs10177789	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10177905	0.88[AFR][1000 genomes]
rs10187519	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187755	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201668	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385893	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13397869	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13398577	1.00[EUR][1000 genomes]
rs13398883	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13408934	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411242	0.84[AFR][1000 genomes]
rs13419229	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13422660	1.00[ASN][1000 genomes]
rs13429524	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13430716	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372811	1.00[ASN][1000 genomes]
rs2540923	1.00[ASN][1000 genomes]
rs2691111	1.00[ASN][1000 genomes]
rs28386843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28701005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56808546	1.00[EUR][1000 genomes]
rs6716696	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72868355	0.86[EUR][1000 genomes]
rs7564242	1.00[EUR][1000 genomes]
rs7571203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1011014	chr2:37027819-37095895	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv999465	chr2:37029347-37095895	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37062800-37095600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:37063000-37093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:37065800-37104200	Weak transcription	Right Ventricle	heart
4	chr2:37066800-37092800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:37067400-37083800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:37067400-37103200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:37067600-37083800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:37067600-37103000	Weak transcription	Small Intestine	intestine
9	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
10	chr2:37068400-37095600	Weak transcription	Fetal Kidney	kidney
11	chr2:37068600-37083800	Weak transcription	HSMMtube	muscle
12	chr2:37068600-37085600	Weak transcription	A549	lung
13	chr2:37068800-37082400	Weak transcription	Fetal Brain Female	brain
14	chr2:37069800-37082400	Weak transcription	HepG2	liver
15	chr2:37071600-37087200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:37071800-37087200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:37072000-37083800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:37072400-37083200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:37073800-37078600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:37073800-37079200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:37073800-37079400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:37073800-37088200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:37073800-37098400	Weak transcription	Colonic Mucosa	Colon
24	chr2:37074000-37078600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:37074000-37078600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:37074000-37079200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:37074000-37079200	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr2:37074000-37079400	Strong transcription	Dnd41	blood
29	chr2:37074000-37080200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:37074000-37081200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr2:37074000-37087200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr2:37074000-37088600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:37074000-37089000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr2:37074200-37078400	Strong transcription	Primary B cells from cord blood	blood
35	chr2:37074200-37078400	Strong transcription	Fetal Thymus	thymus
36	chr2:37074200-37078600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:37074200-37078600	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:37074200-37078800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:37074200-37079000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:37074200-37079200	Strong transcription	Primary T cells from cord blood	blood
41	chr2:37074200-37079400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:37074200-37079400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:37074200-37085600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:37074400-37078400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:37074800-37078400	Strong transcription	Placenta	Placenta
46	chr2:37075000-37083800	Weak transcription	Fetal Intestine Small	intestine
47	chr2:37075000-37086600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:37075200-37078400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:37075200-37078400	Strong transcription	Liver	Liver
50	chr2:37075200-37078400	Strong transcription	Fetal Muscle Leg	muscle

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