Variant report

Variant	rs12273117
Chromosome Location	chr11:18032041-18032042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr11:18031883-18032139	K562	blood:	n/a	n/a
2	CTCF	chr11:18031780-18032070	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18008260..18011186-chr11:18032014..18034059,3	K562	blood:

Variant related genes	Relation type
SERGEF	TF binding region
ENSG00000129158	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12273891	0.81[AFR][1000 genomes]
rs12276830	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294071	0.83[AFR][1000 genomes]
rs28643319	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers 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	156 gene(s)	inside rSNPs	diseases
2	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv832079	chr11:17927967-18047743	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17934400-18033600	Weak transcription	Small Intestine	intestine
2	chr11:17945400-18033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:17980400-18033600	Weak transcription	Colonic Mucosa	Colon
4	chr11:17981200-18033200	Weak transcription	Esophagus	oesophagus
5	chr11:17989400-18033400	Weak transcription	Pancreas	Pancrea
6	chr11:17994000-18033400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:17996600-18032400	Weak transcription	Fetal Brain Male	brain
8	chr11:17998400-18033200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:18002400-18033800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:18008200-18033200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:18008600-18033600	Weak transcription	NHDF-Ad	bronchial
12	chr11:18008800-18033400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:18008800-18033400	Weak transcription	HUVEC	blood vessel
14	chr11:18009400-18033600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:18010200-18033600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:18010400-18033600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:18014800-18033200	Weak transcription	Stomach Mucosa	stomach
18	chr11:18015200-18033400	Weak transcription	Fetal Heart	heart
19	chr11:18016400-18033400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:18017000-18033600	Weak transcription	NHLF	lung
21	chr11:18020000-18034000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:18021000-18033000	Weak transcription	HMEC	breast
23	chr11:18021600-18033400	Weak transcription	Osteobl	bone
24	chr11:18021600-18033600	Weak transcription	Fetal Kidney	kidney
25	chr11:18022600-18033800	Weak transcription	Psoas Muscle	Psoas
26	chr11:18023600-18033400	Weak transcription	Right Ventricle	heart
27	chr11:18024800-18033600	Weak transcription	Fetal Lung	lung
28	chr11:18025000-18032200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:18026600-18033200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:18026600-18033400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:18026600-18033400	Weak transcription	Liver	Liver
32	chr11:18026600-18033400	Weak transcription	NHEK	skin
33	chr11:18026800-18033400	Weak transcription	A549	lung
34	chr11:18027200-18033400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:18027200-18033600	Weak transcription	Colon Smooth Muscle	Colon
36	chr11:18027400-18032400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:18027400-18032800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:18027400-18033200	Weak transcription	Brain Substantia Nigra	brain
39	chr11:18027400-18033600	Weak transcription	Fetal Thymus	thymus
40	chr11:18027400-18033600	Weak transcription	HSMM	muscle
41	chr11:18027400-18033800	Weak transcription	Placenta	Placenta
42	chr11:18027600-18033200	Weak transcription	Brain Germinal Matrix	brain
43	chr11:18027600-18033400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:18027600-18033400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:18027600-18033600	Weak transcription	HSMMtube	muscle
46	chr11:18027600-18033800	Weak transcription	Primary B cells from cord blood	blood
47	chr11:18027600-18033800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr11:18027600-18033800	Weak transcription	Aorta	Aorta
49	chr11:18027600-18034000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr11:18027800-18032600	Weak transcription	Hela-S3	cervix

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