Variant report

Variant	rs7117456
Chromosome Location	chr11:93488138-93488139
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	chr11:93471347..93475237-chr11:93486063..93491649,6	K562	blood:

Variant related genes	Relation type
ENSG00000182919	Chromatin interaction
ENSG00000166012	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2077408	0.82[EUR][1000 genomes]
rs598495	0.80[EUR][1000 genomes]
rs664257	0.80[EUR][1000 genomes]
rs66460850	0.82[EUR][1000 genomes]
rs66483735	0.81[EUR][1000 genomes]
rs66797025	0.81[EUR][1000 genomes]
rs67681709	0.81[EUR][1000 genomes]
rs72976543	0.81[EUR][1000 genomes]
rs72976568	0.81[EUR][1000 genomes]
rs7814	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93475200-93497000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:93475400-93490800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:93475400-93490800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:93475600-93490000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:93475600-93497000	Weak transcription	NHDF-Ad	bronchial
6	chr11:93475800-93488400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:93475800-93488400	Weak transcription	Aorta	Aorta
8	chr11:93476000-93488400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:93476000-93488400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:93476000-93488400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:93476000-93488400	Weak transcription	HSMMtube	muscle
12	chr11:93476000-93490600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:93476000-93491400	Weak transcription	Osteobl	bone
14	chr11:93476000-93495600	Weak transcription	HUVEC	blood vessel
15	chr11:93476000-93497000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:93476000-93497200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:93476000-93498800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:93476200-93499800	Weak transcription	NH-A	brain
19	chr11:93476600-93488400	Weak transcription	Colonic Mucosa	Colon
20	chr11:93477000-93488400	Weak transcription	Esophagus	oesophagus
21	chr11:93477000-93491200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:93477200-93488400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:93477200-93488400	Weak transcription	Spleen	Spleen
24	chr11:93477200-93490800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:93477200-93491400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:93477200-93491400	Weak transcription	NHLF	lung
27	chr11:93478200-93498800	Weak transcription	Fetal Heart	heart
28	chr11:93478400-93488400	Weak transcription	Right Ventricle	heart
29	chr11:93478400-93490600	Weak transcription	Psoas Muscle	Psoas
30	chr11:93478600-93488200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:93478600-93488400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:93478600-93488400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:93478600-93488400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:93478600-93488400	Weak transcription	Fetal Brain Female	brain
35	chr11:93478600-93488400	Weak transcription	Left Ventricle	heart
36	chr11:93478600-93488400	Weak transcription	Ovary	ovary
37	chr11:93478600-93488400	Weak transcription	Pancreas	Pancrea
38	chr11:93478600-93488600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:93478600-93488600	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:93478600-93489600	Weak transcription	Brain Substantia Nigra	brain
41	chr11:93478600-93489800	Weak transcription	K562	blood
42	chr11:93478600-93490400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:93478600-93490600	Weak transcription	Gastric	stomach
44	chr11:93478600-93498200	Weak transcription	Stomach Mucosa	stomach
45	chr11:93478800-93488400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:93478800-93488400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:93478800-93488400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:93478800-93488400	Weak transcription	Brain Germinal Matrix	brain
49	chr11:93478800-93508200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr11:93479000-93490000	Weak transcription	Small Intestine	intestine

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