Variant report

Variant	rs6914716
Chromosome Location	chr6:76626756-76626757
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	chr6:76620793..76623567-chr6:76626394..76629286,2	MCF-7	breast:
2	chr6:76626564..76629624-chr6:76630461..76633607,3	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12664049	0.87[CHB][hapmap]
rs1280049	0.80[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1280050	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1280051	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1280052	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1280053	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1280054	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1280055	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1280056	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1280057	0.88[EUR][1000 genomes]
rs1280058	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13202519	0.89[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.83[MKK][hapmap];0.94[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1322549	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1335043	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34090650	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3778007	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3798425	0.88[CHB][hapmap]
rs3798426	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3798427	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3798429	0.87[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3798433	0.88[CHB][hapmap]
rs4476795	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6924528	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6932992	0.88[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7742567	0.94[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7767675	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs910679	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9341539	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9343325	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9343327	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9359141	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9359147	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9360954	0.89[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.85[MKK][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9766905	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021090	chr6:76306100-76759397	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv538318	chr6:76306100-76759397	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1032961	chr6:76343575-76788852	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv932201	chr6:76365548-77219650	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1028340	chr6:76410921-76960225	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv538319	chr6:76410921-76960225	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76574400-76632600	Weak transcription	Spleen	Spleen
2	chr6:76584200-76629400	Weak transcription	Ovary	ovary
3	chr6:76584800-76644600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:76585800-76626800	Weak transcription	Left Ventricle	heart
5	chr6:76585800-76644600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:76586000-76627600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:76592800-76631800	Weak transcription	NHEK	skin
8	chr6:76594600-76632200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:76600200-76631800	Weak transcription	HMEC	breast
10	chr6:76604400-76627000	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:76606600-76628800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:76606600-76629200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:76606600-76632000	Weak transcription	NHDF-Ad	bronchial
14	chr6:76606800-76632000	Weak transcription	HSMM	muscle
15	chr6:76608600-76628000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:76608600-76629400	Weak transcription	Aorta	Aorta
17	chr6:76615200-76628400	Weak transcription	Fetal Intestine Small	intestine
18	chr6:76615800-76630200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:76616000-76626800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:76616200-76627000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:76617200-76631600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:76620600-76644400	Weak transcription	HUVEC	blood vessel
23	chr6:76621000-76629200	Weak transcription	Fetal Stomach	stomach
24	chr6:76621600-76632200	Weak transcription	Right Ventricle	heart
25	chr6:76622000-76640400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:76622600-76633800	Weak transcription	Small Intestine	intestine
27	chr6:76622800-76630600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:76622800-76631600	Weak transcription	Colonic Mucosa	Colon
29	chr6:76622800-76632000	Weak transcription	NHLF	lung
30	chr6:76623000-76627400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr6:76623200-76644600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:76623600-76631400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:76623800-76627000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:76623800-76628400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:76623800-76630200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr6:76623800-76630400	Strong transcription	Adipose Nuclei	Adipose
37	chr6:76623800-76644400	Weak transcription	Stomach Mucosa	stomach
38	chr6:76624000-76627200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:76624000-76630200	Strong transcription	Liver	Liver
40	chr6:76624000-76632200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr6:76624200-76632000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:76624400-76627200	Weak transcription	Fetal Brain Female	brain
43	chr6:76624800-76626800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr6:76624800-76627600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr6:76624800-76629400	Weak transcription	Lung	lung
46	chr6:76624800-76629400	Weak transcription	Pancreas	Pancrea
47	chr6:76624800-76632000	Weak transcription	Gastric	stomach
48	chr6:76624800-76632600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr6:76624800-76635200	Weak transcription	Esophagus	oesophagus
50	chr6:76624800-76640600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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