Variant report

Variant	rs7781245
Chromosome Location	chr7:111895681-111895682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111893104..111896006-chr7:111897098..111899676,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10226284	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10238141	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10247876	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10259741	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10272126	0.81[CEU][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10272188	0.90[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10272976	0.80[CHD][hapmap]
rs10953708	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953709	0.87[EUR][1000 genomes]
rs10953710	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs10953711	0.81[CEU][hapmap]
rs11760599	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11761807	0.89[CEU][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11762497	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11763356	0.86[ASN][1000 genomes]
rs11763588	0.81[CEU][hapmap]
rs11763768	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11767115	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11768608	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11768793	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11768891	0.84[CHB][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769219	0.81[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11770767	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11773393	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12666261	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12666328	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12668065	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12673830	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13230061	1.00[JPT][hapmap]
rs16873374	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17159341	0.84[ASN][1000 genomes]
rs17159389	0.81[CEU][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17159446	0.82[EUR][1000 genomes]
rs2301725	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes]
rs2520473	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs2520476	0.88[JPT][hapmap]
rs2523039	1.00[JPT][hapmap]
rs2708588	0.94[CHD][hapmap];1.00[JPT][hapmap]
rs2708592	0.94[CHD][hapmap];1.00[JPT][hapmap]
rs2708595	0.94[CHD][hapmap];1.00[JPT][hapmap]
rs2708597	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs2708603	0.94[CHD][hapmap];1.00[JPT][hapmap]
rs2708604	1.00[JPT][hapmap]
rs3807884	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3823515	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41281063	0.81[ASN][1000 genomes]
rs4464880	0.81[CEU][hapmap]
rs4730516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730517	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730520	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55915049	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56675883	0.87[EUR][1000 genomes]
rs56969420	0.83[ASN][1000 genomes]
rs60445595	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6949164	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6955231	0.81[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6978927	0.81[CEU][hapmap]
rs735150	0.88[JPT][hapmap]
rs757196	0.81[CEU][hapmap]
rs7792130	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795336	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9641480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9641481	0.84[EUR][1000 genomes];0.97[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	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
5	esv1802305	chr7:111891204-111896878	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111863800-111900200	Weak transcription	Left Ventricle	heart
2	chr7:111879400-111903000	Weak transcription	Psoas Muscle	Psoas
3	chr7:111879800-111906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:111881800-111906400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:111883400-111897000	Weak transcription	HepG2	liver
6	chr7:111890400-111906200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:111890800-111896000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr7:111890800-111896200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:111891000-111896000	Enhancers	Brain Substantia Nigra	brain
10	chr7:111891200-111896000	Enhancers	Brain Cingulate Gyrus	brain
11	chr7:111891400-111895800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:111891400-111896000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:111892200-111896000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:111892600-111896000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:111892600-111896200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:111892600-111901200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:111893000-111896200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:111893200-111896000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:111893200-111896000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:111893200-111896400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:111893200-111926000	Weak transcription	Primary T cells from cord blood	blood
22	chr7:111893400-111896200	Enhancers	Dnd41	blood
23	chr7:111894000-111895800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:111894200-111896000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr7:111894200-111896200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:111894200-111901000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:111894400-111896000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:111894400-111896200	Enhancers	Pancreas	Pancrea
29	chr7:111894600-111896800	Weak transcription	A549	lung
30	chr7:111894600-111900800	Weak transcription	Fetal Kidney	kidney
31	chr7:111894600-111903000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:111894600-111905000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:111894800-111895800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr7:111894800-111895800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:111894800-111896000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:111895000-111895800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr7:111895000-111896000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:111895000-111897400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr7:111895000-111903200	Weak transcription	Gastric	stomach
40	chr7:111895000-111903400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr7:111895200-111896000	Enhancers	Brain Anterior Caudate	brain
42	chr7:111895400-111896000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr7:111895400-111896000	Enhancers	Small Intestine	intestine
44	chr7:111895600-111897200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr7:111895600-111905600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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