Variant report

Variant	rs56765654
Chromosome Location	chr11:120177530-120177531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
2	chr11:120170944..120173449-chr11:120176604..120178687,2	K562	blood:
3	chr11:120173473..120178843-chr11:120183667..120189130,9	MCF-7	breast:
4	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:
5	chr11:120104320..120113596-chr11:120167938..120177639,38	MCF-7	breast:
6	chr11:120177470..120179089-chr11:120179127..120181642,2	K562	blood:
7	chr11:120177200..120179089-chr11:120179127..120181932,2	K562	blood:
8	chr11:120177467..120179242-chr11:120206323..120208657,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction
ENSG00000196914	Chromatin interaction

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

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

rs_ID	r²[population]
rs12275681	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17311233	0.80[ASN][1000 genomes]
rs61898317	0.80[ASN][1000 genomes]
rs61898318	0.82[AMR][1000 genomes];0.85[ASN][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	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
3	nsv522706	chr11:120173845-120178632	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120169600-120178200	Enhancers	Placenta	Placenta
2	chr11:120172000-120177600	Enhancers	Stomach Mucosa	stomach
3	chr11:120172200-120177600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr11:120172400-120178200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:120173200-120181200	Weak transcription	Fetal Intestine Large	intestine
6	chr11:120173800-120177800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:120173800-120177800	Weak transcription	Lung	lung
8	chr11:120173800-120181200	Weak transcription	Fetal Intestine Small	intestine
9	chr11:120174600-120178000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:120174600-120178000	Enhancers	HMEC	breast
11	chr11:120174800-120178000	Enhancers	Hela-S3	cervix
12	chr11:120174800-120178200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr11:120175000-120178400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:120175400-120178000	Enhancers	NH-A	brain
15	chr11:120175400-120178200	Enhancers	NHLF	lung
16	chr11:120175400-120179200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:120175800-120178000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:120175800-120178000	Enhancers	Esophagus	oesophagus
19	chr11:120175800-120178200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:120176000-120178000	Enhancers	NHEK	skin
21	chr11:120176000-120183600	Weak transcription	Small Intestine	intestine
22	chr11:120176200-120177800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr11:120176200-120178400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:120176200-120178400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:120176400-120177600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr11:120176400-120187400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:120176600-120178000	Enhancers	NHDF-Ad	bronchial
28	chr11:120176600-120181800	Weak transcription	Colonic Mucosa	Colon
29	chr11:120176800-120177800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr11:120176800-120177800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:120176800-120177800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:120176800-120177800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr11:120176800-120178000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr11:120176800-120178000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr11:120176800-120178000	Enhancers	HSMM	muscle
36	chr11:120176800-120178000	Enhancers	Osteobl	bone
37	chr11:120176800-120178200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr11:120176800-120178600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr11:120176800-120179000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:120177000-120177800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:120177000-120177800	Enhancers	HSMMtube	muscle
42	chr11:120177000-120177800	Enhancers	HUVEC	blood vessel
43	chr11:120177000-120178000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr11:120177000-120178000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr11:120177000-120178000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:120177000-120178200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr11:120177200-120177600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:120177200-120177800	Enhancers	A549	lung
49	chr11:120177200-120177800	Enhancers	K562	blood
50	chr11:120177200-120178000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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