Variant report

Variant	rs12226688
Chromosome Location	chr11:120187220-120187221
allele	A/G
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120186835..120191514-chr11:120193209..120197461,6	MCF-7	breast:
2	chr11:120178572..120180297-chr11:120186032..120187655,2	K562	blood:
3	chr11:120106132..120109259-chr11:120185529..120190071,6	K562	blood:
4	chr11:120184537..120187273-chr11:120188454..120191625,4	K562	blood:
5	chr11:120179013..120183815-chr11:120184501..120187839,4	MCF-7	breast:
6	chr11:120175506..120178899-chr11:120185723..120187781,3	MCF-7	breast:
7	chr11:120173473..120178843-chr11:120183667..120189130,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction
ENSG00000181264	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11217810	1.00[EUR][1000 genomes]
rs11217813	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12576881	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2298579	1.00[EUR][1000 genomes]
rs3824883	1.00[EUR][1000 genomes]
rs4616049	1.00[EUR][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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120176400-120187400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:120177200-120187600	Weak transcription	Gastric	stomach
3	chr11:120177800-120187400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:120178000-120187400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:120178200-120187800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:120178400-120187400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:120183800-120187600	Weak transcription	Small Intestine	intestine
8	chr11:120185400-120187800	Enhancers	Placenta	Placenta
9	chr11:120185400-120189000	Enhancers	Fetal Heart	heart
10	chr11:120185600-120188000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:120185800-120187800	Enhancers	Esophagus	oesophagus
12	chr11:120186000-120187400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:120186000-120187400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:120186000-120187400	Weak transcription	HSMMtube	muscle
15	chr11:120186000-120187600	Weak transcription	Lung	lung
16	chr11:120186600-120187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:120186800-120188800	Enhancers	Right Atrium	heart
18	chr11:120187000-120187400	Enhancers	Duodenum Mucosa	Duodenum
19	chr11:120187000-120187400	Enhancers	NHEK	skin
20	chr11:120187000-120187800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:120187000-120187800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr11:120187000-120188000	Enhancers	Fetal Muscle Leg	muscle
23	chr11:120187000-120188400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr11:120187000-120188400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:120187000-120188400	Enhancers	Fetal Lung	lung
26	chr11:120187000-120188400	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr11:120187000-120188600	Enhancers	Ovary	ovary
28	chr11:120187000-120188600	Enhancers	Stomach Mucosa	stomach
29	chr11:120187000-120188600	Enhancers	HMEC	breast
30	chr11:120187200-120187400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr11:120187200-120187600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr11:120187200-120187600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:120187200-120187600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:120187200-120187600	Enhancers	Rectal Smooth Muscle	rectum
35	chr11:120187200-120187600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr11:120187200-120187600	Enhancers	Stomach Smooth Muscle	stomach
37	chr11:120187200-120187800	Enhancers	Right Ventricle	heart
38	chr11:120187200-120188000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:120187200-120188000	Enhancers	Fetal Muscle Trunk	muscle
40	chr11:120187200-120188200	Enhancers	Aorta	Aorta
41	chr11:120187200-120188200	Enhancers	Pancreas	Pancrea
42	chr11:120187200-120188400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:120187200-120188400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:120187200-120188400	Enhancers	Fetal Stomach	stomach
45	chr11:120187200-120188400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr11:120187200-120188600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr11:120187200-120188800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:120187200-120188800	Enhancers	Colonic Mucosa	Colon
49	chr11:120187200-120188800	Enhancers	Left Ventricle	heart
50	chr11:120187200-120189600	Enhancers	Fetal Intestine Small	intestine

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