Variant report

Variant	rs6943477
Chromosome Location	chr7:140223015-140223016
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	chr7:140221603..140223913-chr7:140237034..140239122,2	K562	blood:
2	chr17:80163640..80164146-chr7:140222699..140223679,2	Hela-S3	cervix:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10237118	0.90[AMR][1000 genomes]
rs12538386	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs6464818	0.87[EUR][1000 genomes]
rs6464833	1.00[CEU][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs6942494	0.85[AMR][1000 genomes]
rs6948434	0.88[EUR][1000 genomes]
rs6948774	0.90[EUR][1000 genomes]
rs6952208	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6952414	0.92[EUR][1000 genomes]
rs6952999	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6975258	0.88[EUR][1000 genomes]
rs6976066	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6980049	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803443	chr7:140146694-140263109	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2761112	chr7:140191538-140234571	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv464735	chr7:140195463-140233585	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv608501	chr7:140195463-140233585	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1033685	chr7:140197079-140224303	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv1015856	chr7:140197079-140235677	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv1018535	chr7:140198540-140224303	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1019815	chr7:140206590-140235677	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv1802929	chr7:140212566-140285491	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140205800-140225400	Weak transcription	Spleen	Spleen
2	chr7:140206800-140233200	Weak transcription	Brain Angular Gyrus	brain
3	chr7:140207000-140241000	Weak transcription	Fetal Brain Male	brain
4	chr7:140211600-140225600	Weak transcription	NH-A	brain
5	chr7:140212600-140225400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:140212600-140225400	Weak transcription	Esophagus	oesophagus
7	chr7:140212600-140225800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:140212600-140225800	Weak transcription	Right Atrium	heart
9	chr7:140212600-140227000	Weak transcription	Lung	lung
10	chr7:140212800-140224000	Weak transcription	Liver	Liver
11	chr7:140214600-140225400	Weak transcription	Gastric	stomach
12	chr7:140216600-140227600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:140216800-140229000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:140216800-140230600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:140217200-140223400	Strong transcription	Fetal Intestine Small	intestine
16	chr7:140217200-140224000	Strong transcription	Fetal Brain Female	brain
17	chr7:140218000-140223400	Weak transcription	Fetal Intestine Large	intestine
18	chr7:140218200-140223800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:140218200-140224800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:140218200-140225400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:140218200-140225600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:140218200-140225800	Weak transcription	Pancreas	Pancrea
23	chr7:140218200-140241400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:140218400-140225000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:140218400-140225600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:140219000-140226800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr7:140219000-140233200	Weak transcription	NHDF-Ad	bronchial
28	chr7:140219200-140225800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:140219200-140226600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:140219200-140240800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:140219400-140223600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:140219400-140225600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:140219400-140229000	Strong transcription	Fetal Stomach	stomach
34	chr7:140219600-140223200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:140219600-140225400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:140219600-140225400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:140219600-140225400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr7:140219600-140225400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:140219600-140225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:140219600-140240800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:140219800-140223800	Strong transcription	Adipose Nuclei	Adipose
42	chr7:140219800-140225400	Weak transcription	Brain Substantia Nigra	brain
43	chr7:140219800-140233200	Strong transcription	Fetal Muscle Leg	muscle
44	chr7:140220000-140225400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr7:140220000-140225400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:140220200-140224000	Strong transcription	Fetal Lung	lung
47	chr7:140220200-140225800	Weak transcription	Colonic Mucosa	Colon
48	chr7:140220400-140225400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr7:140220800-140224000	Strong transcription	Brain Hippocampus Middle	brain
50	chr7:140221000-140223200	Strong transcription	Brain Inferior Temporal Lobe	brain

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