Variant report

Variant	rs4149522
Chromosome Location	chr2:101008949-101008950
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	chr2:101005691..101009453-chr2:101017314..101020656,3	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10165326	0.89[ASN][1000 genomes]
rs10172841	0.85[CHD][hapmap]
rs10186689	0.81[ASN][1000 genomes]
rs10188009	0.81[ASN][1000 genomes]
rs10191099	0.81[ASN][1000 genomes]
rs10192741	0.81[ASN][1000 genomes]
rs10194087	0.81[ASN][1000 genomes]
rs10194280	0.81[ASN][1000 genomes]
rs10207566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10210458	0.81[ASN][1000 genomes]
rs1057056	0.85[CHD][hapmap]
rs1124009	0.85[CHD][hapmap]
rs11899975	0.81[ASN][1000 genomes]
rs11902829	0.92[ASN][1000 genomes]
rs13400841	0.85[CHD][hapmap]
rs13415850	0.81[ASN][1000 genomes]
rs1465829	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17024023	0.81[ASN][1000 genomes]
rs17024153	0.96[ASN][1000 genomes]
rs17024203	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[ASN][1000 genomes]
rs17024207	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17024209	0.85[CHD][hapmap]
rs1992174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2309799	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2309801	0.85[CHD][hapmap]
rs28485289	0.81[ASN][1000 genomes]
rs28631885	0.81[ASN][1000 genomes]
rs2871338	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs3748934	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3748936	0.85[CHD][hapmap]
rs3791358	0.85[CHD][hapmap]
rs4149509	0.85[CHD][hapmap]
rs4149514	0.85[CHD][hapmap]
rs4149515	0.85[CHD][hapmap]
rs57699256	0.81[ASN][1000 genomes]
rs57758873	0.92[ASN][1000 genomes]
rs58397194	0.92[ASN][1000 genomes]
rs58552292	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs58742261	0.88[ASN][1000 genomes]
rs59193721	0.81[ASN][1000 genomes]
rs59388202	1.00[ASN][1000 genomes]
rs60458261	0.81[ASN][1000 genomes]
rs61429123	0.81[ASN][1000 genomes]
rs62148364	0.84[ASN][1000 genomes]
rs6542928	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6725672	0.85[CHD][hapmap]
rs6734881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6754869	0.85[CHD][hapmap]
rs6758622	0.85[CHD][hapmap]
rs72960174	0.86[ASN][1000 genomes]
rs7567130	1.00[CHB][hapmap]
rs7571659	0.85[CHD][hapmap]
rs7575422	0.85[CHD][hapmap]
rs995133	1.00[CHB][hapmap]

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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv874701	chr2:100976139-101023261	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100993200-101017800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:100998200-101009000	Weak transcription	A549	lung
3	chr2:100998200-101022600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:100998400-101010000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:101000400-101009400	Weak transcription	HepG2	liver
6	chr2:101002000-101009000	Weak transcription	Gastric	stomach
7	chr2:101002000-101023400	Weak transcription	Psoas Muscle	Psoas
8	chr2:101002400-101012000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:101003200-101021000	Weak transcription	K562	blood
10	chr2:101005200-101015000	Strong transcription	Fetal Brain Female	brain
11	chr2:101005600-101017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:101005600-101032800	Weak transcription	HUVEC	blood vessel
13	chr2:101005800-101033000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:101006000-101009200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:101006000-101021600	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:101006400-101018400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:101006600-101009000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:101006600-101009000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:101006600-101023600	Strong transcription	Brain Germinal Matrix	brain
20	chr2:101006600-101031600	Strong transcription	Fetal Stomach	stomach
21	chr2:101006800-101014800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:101007000-101025000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:101007000-101027200	Strong transcription	Stomach Smooth Muscle	stomach
24	chr2:101007200-101011200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:101007200-101015400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:101007200-101018600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:101007200-101032000	Weak transcription	NHDF-Ad	bronchial
28	chr2:101007400-101009600	Weak transcription	Fetal Kidney	kidney
29	chr2:101007400-101010800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:101007400-101011800	Weak transcription	Fetal Intestine Large	intestine
31	chr2:101007400-101014600	Strong transcription	Brain Cingulate Gyrus	brain
32	chr2:101007400-101014800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:101007400-101021600	Weak transcription	HSMMtube	muscle
34	chr2:101007600-101009000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:101007600-101009200	Weak transcription	Brain Substantia Nigra	brain
36	chr2:101007600-101010400	Strong transcription	Left Ventricle	heart
37	chr2:101007600-101012800	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr2:101007600-101013600	Strong transcription	Adipose Nuclei	Adipose
39	chr2:101007600-101013800	Strong transcription	Thymus	Thymus
40	chr2:101007600-101014800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:101007600-101014800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:101007600-101014800	Strong transcription	Fetal Intestine Small	intestine
43	chr2:101007600-101015000	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:101007600-101015400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:101007600-101023400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:101007600-101024200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:101007600-101030600	Weak transcription	NH-A	brain
48	chr2:101007800-101009400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:101007800-101014400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:101007800-101014800	Strong transcription	Brain Anterior Caudate	brain

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