Variant report

Variant	rs7947796
Chromosome Location	chr11:46660739-46660740
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	chr11:46657186..46659254-chr11:46659404..46662397,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7117182	1.00[EUR][1000 genomes]
rs7118544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46640000-46664200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:46640000-46670800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:46640600-46667200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:46640600-46667200	Weak transcription	Psoas Muscle	Psoas
5	chr11:46640800-46664400	Weak transcription	GM12878-XiMat	blood
6	chr11:46640800-46670600	Weak transcription	Fetal Heart	heart
7	chr11:46640800-46670800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:46640800-46673000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:46641400-46667400	Weak transcription	Esophagus	oesophagus
10	chr11:46641600-46662600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:46641600-46663800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:46641800-46660800	Weak transcription	Stomach Mucosa	stomach
13	chr11:46641800-46663200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr11:46641800-46680800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr11:46642000-46685000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:46643600-46690800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:46644600-46667400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:46644800-46666800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:46647200-46667400	Weak transcription	Pancreas	Pancrea
20	chr11:46647200-46670800	Weak transcription	Aorta	Aorta
21	chr11:46647400-46666600	Weak transcription	A549	lung
22	chr11:46647400-46670800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:46647600-46667400	Weak transcription	Right Ventricle	heart
24	chr11:46647600-46670200	Weak transcription	NHLF	lung
25	chr11:46650400-46662200	Strong transcription	Fetal Thymus	thymus
26	chr11:46650800-46669600	Weak transcription	Right Atrium	heart
27	chr11:46651000-46663400	Weak transcription	Spleen	Spleen
28	chr11:46652000-46667400	Weak transcription	Gastric	stomach
29	chr11:46652200-46666000	Weak transcription	Osteobl	bone
30	chr11:46652200-46678400	Weak transcription	Fetal Brain Male	brain
31	chr11:46652200-46695600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:46652400-46660800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:46652400-46664600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:46652400-46667000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:46652400-46667200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:46652400-46667200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:46652400-46670800	Weak transcription	Fetal Kidney	kidney
38	chr11:46652600-46661000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:46652600-46666800	Weak transcription	K562	blood
40	chr11:46652600-46667200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:46652600-46667400	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:46653000-46666600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:46653200-46668600	Weak transcription	Colonic Mucosa	Colon
44	chr11:46653400-46666400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:46653400-46666600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:46653400-46666600	Weak transcription	NHDF-Ad	bronchial
47	chr11:46653400-46667200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:46653600-46661600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:46653800-46670800	Weak transcription	Small Intestine	intestine
50	chr11:46654000-46661600	Weak transcription	NH-A	brain

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