Variant report

Variant	rs17245511
Chromosome Location	chr11:120186190-120186191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12421941	0.90[EUR][1000 genomes]
rs12575199	0.90[EUR][1000 genomes]
rs17245504	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2282537	0.93[EUR][1000 genomes]
rs61898343	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61898345	0.89[EUR][1000 genomes]
rs717051	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717052	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][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:41 , 50 per page) page: 1

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	chr11:120177800-120187200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:120177800-120187400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:120178000-120187200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:120178000-120187400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:120178200-120187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:120178200-120187800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:120178400-120187400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:120179000-120187200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:120179200-120187200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:120179400-120187000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:120182200-120187200	Weak transcription	Colonic Mucosa	Colon
14	chr11:120182400-120187000	Weak transcription	Stomach Mucosa	stomach
15	chr11:120182600-120187000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:120183800-120187000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:120183800-120187600	Weak transcription	Small Intestine	intestine
18	chr11:120184200-120187000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:120184800-120186200	Enhancers	Fetal Intestine Large	intestine
20	chr11:120185200-120187000	Weak transcription	NHEK	skin
21	chr11:120185400-120186200	Enhancers	K562	blood
22	chr11:120185400-120186400	Enhancers	Right Atrium	heart
23	chr11:120185400-120186600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:120185400-120187800	Enhancers	Placenta	Placenta
25	chr11:120185400-120189000	Enhancers	Fetal Heart	heart
26	chr11:120185600-120187000	Weak transcription	Fetal Lung	lung
27	chr11:120185600-120187000	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:120185600-120187200	Weak transcription	Fetal Stomach	stomach
29	chr11:120185600-120188000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:120185800-120187800	Enhancers	Esophagus	oesophagus
31	chr11:120186000-120186200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr11:120186000-120187200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:120186000-120187200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:120186000-120187200	Weak transcription	Fetal Intestine Small	intestine
35	chr11:120186000-120187200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:120186000-120187200	Weak transcription	Left Ventricle	heart
37	chr11:120186000-120187200	Weak transcription	Right Ventricle	heart
38	chr11:120186000-120187400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:120186000-120187400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:120186000-120187400	Weak transcription	HSMMtube	muscle
41	chr11:120186000-120187600	Weak transcription	Lung	lung

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