Variant report

Variant	rs7946094
Chromosome Location	chr11:46627329-46627330
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	chr11:46626528..46628093-chr11:46638381..46640955,2	K562	blood:
2	chr11:46598069..46600663-chr11:46627236..46629113,2	K562	blood:

Variant related genes	Relation type
ENSG00000175224	Chromatin interaction
ENSG00000180423	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11038894	1.00[AMR][1000 genomes]
rs12280028	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12280656	1.00[AMR][1000 genomes]
rs12295608	1.00[AMR][1000 genomes]
rs1873130	0.87[AMR][1000 genomes]
rs6485680	0.87[AMR][1000 genomes]
rs73466034	1.00[AMR][1000 genomes]
rs73466036	1.00[AMR][1000 genomes]
rs73467915	0.87[AMR][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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46615600-46636800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:46615800-46637000	Weak transcription	Esophagus	oesophagus
3	chr11:46615800-46638400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:46616000-46637000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:46616000-46638400	Weak transcription	Aorta	Aorta
6	chr11:46616200-46633000	Weak transcription	Placenta	Placenta
7	chr11:46616200-46633400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:46616200-46633400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:46616200-46633400	Weak transcription	Fetal Brain Female	brain
10	chr11:46616200-46633400	Weak transcription	NHLF	lung
11	chr11:46616200-46633600	Weak transcription	Brain Germinal Matrix	brain
12	chr11:46616200-46634800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:46616200-46637000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:46616200-46637200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:46616200-46637200	Weak transcription	HMEC	breast
16	chr11:46616200-46637400	Weak transcription	Right Ventricle	heart
17	chr11:46616200-46637400	Weak transcription	Thymus	Thymus
18	chr11:46616200-46638000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:46616200-46638000	Weak transcription	Right Atrium	heart
20	chr11:46616200-46638400	Weak transcription	Spleen	Spleen
21	chr11:46616400-46628000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:46616400-46633000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:46616400-46633200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:46616400-46633200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:46616400-46633400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:46616400-46633400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:46616400-46637000	Weak transcription	A549	lung
28	chr11:46616400-46637400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:46616400-46637600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:46616400-46637600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:46616400-46637800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:46616400-46638000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:46616600-46628400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:46616600-46633000	Weak transcription	Hela-S3	cervix
35	chr11:46619200-46638000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:46619400-46632800	Weak transcription	Stomach Mucosa	stomach
37	chr11:46619400-46633600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:46619400-46638000	Weak transcription	Small Intestine	intestine
39	chr11:46619600-46633400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:46619600-46637200	Weak transcription	HSMM	muscle
41	chr11:46619800-46637400	Weak transcription	NH-A	brain
42	chr11:46622800-46637200	Weak transcription	NHDF-Ad	bronchial
43	chr11:46623000-46637200	Weak transcription	Osteobl	bone
44	chr11:46623600-46633200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:46623800-46629200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:46623800-46633400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:46623800-46637800	Weak transcription	Fetal Brain Male	brain
48	chr11:46625400-46628000	Weak transcription	HepG2	liver
49	chr11:46625400-46631000	Weak transcription	Fetal Intestine Small	intestine
50	chr11:46625400-46632800	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links