Variant report

Variant	rs6949809
Chromosome Location	chr7:111892814-111892815
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	chr7:111891287..111893873-chr7:111893938..111895476,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10233673	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10240912	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10251236	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10257677	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10272976	0.88[CEU][hapmap];0.88[GIH][hapmap];0.82[MKK][hapmap]
rs11773464	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.82[LWK][hapmap];0.83[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12113149	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12154685	0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12537746	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12705817	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13236012	0.86[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap]
rs2708600	0.82[JPT][hapmap]
rs3948719	0.88[CEU][hapmap];0.88[GIH][hapmap]
rs4727766	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.94[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4730519	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4730524	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6966694	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6976889	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6978767	0.94[CEU][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6979385	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs736771	0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs7789649	0.82[JPT][hapmap]
rs7802828	0.84[CEU][hapmap];0.85[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs886353	0.82[CEU][hapmap]
rs960348	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[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	chr7:111877000-111893600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:111879400-111903000	Weak transcription	Psoas Muscle	Psoas
4	chr7:111879600-111894400	Weak transcription	Pancreas	Pancrea
5	chr7:111879800-111906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:111881800-111906400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:111883400-111897000	Weak transcription	HepG2	liver
8	chr7:111890400-111906200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:111890600-111893600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:111890600-111894200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:111890800-111896000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr7:111890800-111896200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:111891000-111895400	Weak transcription	Small Intestine	intestine
14	chr7:111891000-111896000	Enhancers	Brain Substantia Nigra	brain
15	chr7:111891200-111893200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr7:111891200-111893200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:111891200-111894600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:111891200-111894600	Enhancers	Brain Hippocampus Middle	brain
19	chr7:111891200-111894800	Enhancers	Brain Anterior Caudate	brain
20	chr7:111891200-111895000	Enhancers	Brain Angular Gyrus	brain
21	chr7:111891200-111896000	Enhancers	Brain Cingulate Gyrus	brain
22	chr7:111891400-111895800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:111891400-111896000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:111891600-111893200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:111891600-111894000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:111891800-111893200	Enhancers	Primary T cells from cord blood	blood
27	chr7:111892200-111893600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:111892200-111894200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:111892200-111895400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr7:111892200-111896000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:111892600-111893000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:111892600-111894400	Weak transcription	Aorta	Aorta
33	chr7:111892600-111895000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr7:111892600-111896000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:111892600-111896200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:111892600-111901200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:111892800-111893000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr7:111892800-111893000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:111892800-111893000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr7:111892800-111893000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr7:111892800-111893000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr7:111892800-111893200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:111892800-111894400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:111892800-111894600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:111892800-111894600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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