Variant report

Variant	rs9661205
Chromosome Location	chr1:151482854-151482855
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151482509-151483242	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr1:151482310-151482869	H1-hESC	embryonic stem cell:	n/a	chr1:151482715-151482724 chr1:151482571-151482582 chr1:151482545-151482554
3	SP1	chr1:151482288-151482942	H1-hESC	embryonic stem cell:	n/a	chr1:151482715-151482724 chr1:151482571-151482582 chr1:151482545-151482554
4	REST	chr1:151482794-151484661	H1-neurons	neurons:	n/a	chr1:151484462-151484472 chr1:151483892-151483905 chr1:151484364-151484384 chr1:151484460-151484474 chr1:151483895-151483908 chr1:151484364-151484384
5	SIN3AK20	chr1:151482700-151487580	MCF-7	breast:	n/a	n/a
6	TAF1	chr1:151482436-151482877	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr1:151482231-151483040	H1-hESC	embryonic stem cell:	n/a	chr1:151482310-151482321
8	SIN3A	chr1:151482476-151482958	H1-hESC	embryonic stem cell:	n/a	n/a
9	TBP	chr1:151482470-151482901	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF7	chr1:151482448-151482861	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:151482373-151486978	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr1:151482418-151483721	H1-hESC	embryonic stem cell:	n/a	chr1:151483652-151483662 chr1:151483637-151483647

No.	Distal block	Cell Line	Cell type
1	chr1:151428938..151433041-chr1:151480813..151490135,53	MCF-7	breast:
2	chr1:151481429..151491154-chr1:151502501..151517487,49	MCF-7	breast:
3	chr1:151481542..151488437-chr1:151515636..151525415,14	MCF-7	breast:
4	chr1:151482538..151486660-chr1:151496961..151502245,5	MCF-7	breast:
5	chr1:151431720..151433397-chr1:151480112..151483047,2	K562	blood:
6	chr1:151477348..151494376-chr1:151504804..151515249,50	MCF-7	breast:
7	chr1:151414283..151420812-chr1:151481565..151487481,13	MCF-7	breast:
8	chr1:151481758..151484470-chr1:151811083..151813836,2	MCF-7	breast:
9	chr1:151481002..151483252-chr1:151687957..151690791,2	MCF-7	breast:
10	chr1:151414651..151422317-chr1:151482271..151486624,12	MCF-7	breast:
11	chr1:151170179..151172284-chr1:151482238..151485195,2	MCF-7	breast:
12	chr1:151427202..151436068-chr1:151477865..151490153,60	MCF-7	breast:

Variant related genes	Relation type
CGN	TF binding region
ENSG00000225556	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000159409	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000232536	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10749663	1.00[MEX][hapmap]
rs10749664	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204831	0.83[AMR][1000 genomes]
rs11204836	0.95[AFR][1000 genomes]
rs1308150	1.00[MEX][hapmap]
rs1342928	1.00[AMR][1000 genomes]
rs1418822	1.00[MEX][hapmap]
rs1539491	0.82[YRI][hapmap];0.83[AMR][1000 genomes]
rs1752379	1.00[MEX][hapmap]
rs2211436	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2337361	1.00[MEX][hapmap]
rs2495390	1.00[MEX][hapmap]
rs2495391	1.00[MEX][hapmap]
rs3001840	1.00[MEX][hapmap]
rs4043745	0.83[AMR][1000 genomes]
rs4246523	0.83[AMR][1000 genomes]
rs4246528	1.00[MEX][hapmap]
rs4970915	0.83[AMR][1000 genomes]
rs4970917	0.83[AMR][1000 genomes]
rs4970959	0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs4970960	0.85[AMR][1000 genomes]
rs6587600	1.00[AMR][1000 genomes]
rs7516311	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7533032	1.00[MEX][hapmap]
rs7551059	0.87[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151475400-151483400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:151475800-151483200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:151477200-151483200	Weak transcription	HMEC	breast
4	chr1:151477400-151483200	Weak transcription	Small Intestine	intestine
5	chr1:151481600-151483000	Enhancers	Stomach Mucosa	stomach
6	chr1:151481800-151483200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:151481800-151483400	Weak transcription	Right Atrium	heart
8	chr1:151482000-151484200	Active TSS	Duodenum Mucosa	Duodenum
9	chr1:151482400-151483000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:151482400-151483000	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr1:151482400-151483600	Flanking Active TSS	Liver	Liver
12	chr1:151482400-151485000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:151482400-151486200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr1:151482600-151483000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:151482600-151483000	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:151482600-151483000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
17	chr1:151482600-151483000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:151482600-151483000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:151482600-151483000	Enhancers	Fetal Brain Male	brain
20	chr1:151482600-151483000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
21	chr1:151482600-151483000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:151482600-151483000	Bivalent Enhancer	Thymus	Thymus
23	chr1:151482600-151483200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr1:151482600-151483200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:151482600-151483200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:151482600-151483200	Bivalent Enhancer	Placenta	Placenta
27	chr1:151482600-151483200	Flanking Active TSS	A549	lung
28	chr1:151482600-151483200	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr1:151482600-151484000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:151482600-151484200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr1:151482600-151484400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:151482600-151484400	Active TSS	Fetal Brain Female	brain
33	chr1:151482600-151485000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr1:151482800-151483000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:151482800-151483000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:151482800-151483000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:151482800-151483000	Active TSS	Primary B cells from cord blood	blood
38	chr1:151482800-151483000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
39	chr1:151482800-151483000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:151482800-151483000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr1:151482800-151483000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr1:151482800-151483000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr1:151482800-151483000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:151482800-151483000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr1:151482800-151483000	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr1:151482800-151483000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:151482800-151483000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:151482800-151483000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:151482800-151483000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:151482800-151483000	Flanking Active TSS	Brain Angular Gyrus	brain

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