Variant report

Variant	rs10690121
Chromosome Location	chr11:47530228-47530229
allele	-/AC/CA/TG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47495876..47498563-chr11:47527719..47530859,3	K562	blood:
2	chr11:47524421..47526189-chr11:47528668..47531487,2	K562	blood:
3	chr11:47522240..47523818-chr11:47530043..47531657,2	K562	blood:
4	chr11:47529126..47530970-chr11:47562135..47565880,3	K562	blood:

Variant related genes	Relation type
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10769279	1.00[AMR][1000 genomes]
rs10769281	1.00[AMR][1000 genomes]
rs10769283	1.00[AMR][1000 genomes]
rs10838735	1.00[AMR][1000 genomes]
rs11039261	1.00[EUR][1000 genomes]
rs11039309	1.00[AMR][1000 genomes]
rs11039312	1.00[AMR][1000 genomes]
rs12286241	1.00[EUR][1000 genomes]
rs12289442	1.00[EUR][1000 genomes]
rs2233354	1.00[AMR][1000 genomes]
rs4256934	1.00[AMR][1000 genomes]
rs4284367	1.00[AMR][1000 genomes]
rs4303193	1.00[AMR][1000 genomes]
rs4331047	1.00[AMR][1000 genomes]
rs4418760	1.00[AMR][1000 genomes]
rs4434961	1.00[AMR][1000 genomes]
rs4486587	1.00[AMR][1000 genomes]
rs4623856	1.00[AMR][1000 genomes]
rs4752859	1.00[AMR][1000 genomes]
rs6416137	1.00[AMR][1000 genomes]
rs6485760	1.00[AMR][1000 genomes]
rs6485762	1.00[AMR][1000 genomes]
rs6485764	1.00[AMR][1000 genomes]
rs7103092	1.00[AMR][1000 genomes]
rs7105845	1.00[AMR][1000 genomes]
rs7106293	1.00[AMR][1000 genomes]
rs7107473	1.00[AMR][1000 genomes]
rs7109012	1.00[AMR][1000 genomes]
rs7118271	1.00[AMR][1000 genomes]
rs7129821	1.00[AMR][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	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47509000-47534400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:47509200-47530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:47510200-47536800	Weak transcription	Fetal Kidney	kidney
4	chr11:47521600-47531000	Weak transcription	Lung	lung
5	chr11:47521600-47534000	Weak transcription	Aorta	Aorta
6	chr11:47521600-47534400	Weak transcription	HUVEC	blood vessel
7	chr11:47521800-47531000	Weak transcription	Spleen	Spleen
8	chr11:47522800-47530400	Weak transcription	HepG2	liver
9	chr11:47522800-47536200	Weak transcription	Fetal Brain Female	brain
10	chr11:47523000-47530400	Weak transcription	Esophagus	oesophagus
11	chr11:47523000-47536600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:47523000-47545600	Weak transcription	Dnd41	blood
13	chr11:47523200-47531000	Weak transcription	Right Atrium	heart
14	chr11:47523400-47530400	Weak transcription	Pancreas	Pancrea
15	chr11:47524800-47549600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:47526200-47530400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:47526200-47530400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:47526200-47531000	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:47526400-47533400	Weak transcription	Fetal Stomach	stomach
20	chr11:47527600-47531600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:47528000-47530800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:47528000-47530800	Genic enhancers	Hela-S3	cervix
23	chr11:47528000-47531200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr11:47528000-47531200	Enhancers	Colon Smooth Muscle	Colon
25	chr11:47528000-47531200	Enhancers	HSMMtube	muscle
26	chr11:47528000-47531400	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:47528000-47531600	Enhancers	Adipose Nuclei	Adipose
28	chr11:47528000-47531800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:47528000-47532000	Enhancers	HSMM	muscle
30	chr11:47528000-47532400	Enhancers	Stomach Mucosa	stomach
31	chr11:47528000-47535000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr11:47528000-47538200	Enhancers	Osteobl	bone
33	chr11:47528200-47530400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:47528200-47530600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr11:47528200-47530800	Enhancers	K562	blood
36	chr11:47528200-47531000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:47528200-47531000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr11:47528200-47531000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:47528200-47531200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr11:47528200-47531200	Enhancers	Primary B cells from cord blood	blood
41	chr11:47528200-47531200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr11:47528200-47531800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr11:47528200-47531800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:47528200-47531800	Enhancers	Small Intestine	intestine
45	chr11:47528200-47532000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr11:47528200-47532000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr11:47528200-47532200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:47528200-47532200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr11:47528200-47532400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:47528400-47530400	Enhancers	Fetal Intestine Small	intestine

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