Variant report

Variant	rs12290756
Chromosome Location	chr11:120204719-120204720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr11:120203981-120204805	HUVEC	blood vessel:	n/a	chr11:120204189-120204200

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120197781..120201028-chr11:120203553..120206762,3	MCF-7	breast:
2	chr11:120196111..120201143-chr11:120204363..120207628,7	K562	blood:
3	chr11:120106365..120107959-chr11:120202588..120204989,2	MCF-7	breast:
4	chr11:120202870..120205056-chr11:120277472..120279353,2	K562	blood:
5	chr11:120201225..120203829-chr11:120204191..120207304,3	K562	blood:
6	chr11:120194862..120197585-chr11:120203291..120207610,4	MCF-7	breast:

No data

Variant related genes	Relation type
ARHGEF12	TF binding region
ENSG00000181264	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10437691	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10466597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217780	1.00[AMR][1000 genomes]
rs11217784	1.00[AMR][1000 genomes]
rs11217894	1.00[AMR][1000 genomes]
rs12272851	1.00[AMR][1000 genomes]
rs12273736	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278707	1.00[AMR][1000 genomes]
rs12279381	1.00[AMR][1000 genomes]
rs12280403	1.00[AMR][1000 genomes]
rs12281995	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12283229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286309	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12288495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288854	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12288900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123749	1.00[AMR][1000 genomes]
rs28739499	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120196400-120206400	Weak transcription	Gastric	stomach
2	chr11:120196800-120205800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:120196800-120205800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:120196800-120206200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:120197200-120205800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:120197200-120205800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:120197600-120205800	Weak transcription	Liver	Liver
8	chr11:120197800-120205600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:120198000-120205200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:120198000-120205600	Enhancers	Hela-S3	cervix
11	chr11:120198200-120205600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:120198200-120205600	Weak transcription	HepG2	liver
13	chr11:120198400-120205600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:120198400-120205800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:120198400-120206400	Weak transcription	Lung	lung
16	chr11:120198400-120206400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:120199400-120205200	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:120199600-120205800	Weak transcription	Right Atrium	heart
19	chr11:120201000-120204800	Enhancers	HMEC	breast
20	chr11:120201200-120205800	Weak transcription	Brain Angular Gyrus	brain
21	chr11:120201200-120206400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:120201200-120206400	Weak transcription	Spleen	Spleen
23	chr11:120201400-120205600	Weak transcription	Adipose Nuclei	Adipose
24	chr11:120201400-120205800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:120201400-120205800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:120201600-120204800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:120201600-120205600	Weak transcription	Fetal Brain Male	brain
28	chr11:120201600-120205600	Enhancers	HSMMtube	muscle
29	chr11:120201600-120205600	Enhancers	HUVEC	blood vessel
30	chr11:120201800-120205600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:120201800-120205600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:120201800-120205800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr11:120202000-120205600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr11:120202000-120205600	Weak transcription	Fetal Intestine Large	intestine
35	chr11:120202000-120205600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:120202000-120205800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr11:120202200-120205200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:120202200-120205600	Enhancers	NHDF-Ad	bronchial
39	chr11:120202200-120205800	Weak transcription	Left Ventricle	heart
40	chr11:120202400-120204800	Weak transcription	Small Intestine	intestine
41	chr11:120202400-120205600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:120202400-120205600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:120202400-120205600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:120202400-120205600	Weak transcription	Brain Anterior Caudate	brain
45	chr11:120202400-120205600	Weak transcription	Fetal Kidney	kidney
46	chr11:120202400-120205600	Enhancers	NH-A	brain
47	chr11:120202400-120205600	Enhancers	Osteobl	bone
48	chr11:120202400-120205800	Weak transcription	Aorta	Aorta
49	chr11:120202400-120205800	Weak transcription	Ovary	ovary
50	chr11:120202400-120205800	Weak transcription	Pancreas	Pancrea

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