Variant report

Variant	rs73470586
Chromosome Location	chr11:57054699-57054700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57053497..57056158-chr11:57061828..57064102,2	K562	blood:
2	chr11:57054342..57056926-chr11:57058891..57060493,2	MCF-7	breast:
3	chr11:57052039..57055277-chr11:57089920..57092919,3	MCF-7	breast:
4	chr11:57054119..57055817-chr11:57056787..57058987,2	K562	blood:

Variant related genes	Relation type
ENSG00000149115	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56825823	1.00[AFR][1000 genomes]
rs57590159	1.00[AFR][1000 genomes]
rs59182590	0.85[AFR][1000 genomes]
rs59267531	1.00[AFR][1000 genomes]
rs60361446	0.87[AFR][1000 genomes]
rs60857883	0.85[AFR][1000 genomes]
rs61427216	1.00[AFR][1000 genomes]
rs73470550	0.90[AFR][1000 genomes]
rs73470587	0.90[AFR][1000 genomes]
rs73470602	0.87[AFR][1000 genomes]
rs73472529	0.80[AFR][1000 genomes]
rs73472549	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57046000-57062000	Weak transcription	Right Atrium	heart
2	chr11:57046600-57056000	Weak transcription	Adipose Nuclei	Adipose
3	chr11:57048200-57055200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:57048200-57055600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:57048200-57056400	Weak transcription	Gastric	stomach
6	chr11:57051400-57055000	Weak transcription	HMEC	breast
7	chr11:57051400-57055200	Weak transcription	NHEK	skin
8	chr11:57051400-57055800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:57051400-57056200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:57051600-57055600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:57051600-57055600	Weak transcription	HSMM	muscle
12	chr11:57051600-57056200	Weak transcription	Stomach Mucosa	stomach
13	chr11:57051600-57056600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:57051800-57055400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:57051800-57055600	Weak transcription	NHDF-Ad	bronchial
16	chr11:57051800-57055800	Weak transcription	Small Intestine	intestine
17	chr11:57051800-57056200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:57051800-57056400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:57051800-57056400	Weak transcription	Esophagus	oesophagus
20	chr11:57051800-57062000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:57052000-57055800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:57052000-57055800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:57052000-57056000	Weak transcription	Fetal Intestine Small	intestine
24	chr11:57052000-57056200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:57052000-57056200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:57052000-57056400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:57052000-57056600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:57052200-57055800	Weak transcription	HSMMtube	muscle
29	chr11:57052200-57056400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:57052200-57056400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:57052200-57060400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:57052400-57055400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:57052400-57055400	Weak transcription	Fetal Intestine Large	intestine
34	chr11:57052400-57055400	Weak transcription	Osteobl	bone
35	chr11:57052400-57057200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:57052400-57078200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr11:57052600-57055200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:57052800-57056000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:57053800-57056400	Weak transcription	Placenta	Placenta
40	chr11:57054200-57054800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:57054200-57054800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr11:57054400-57055000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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