Variant report

Variant	rs5743675
Chromosome Location	chr11:71713114-71713115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71707078..71709789-chr11:71712724..71714924,3	K562	blood:
2	chr11:71711624..71714587-chr11:71941386..71943699,2	K562	blood:
3	chr11:71709077..71712165-chr11:71712333..71716148,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165458	Chromatin interaction
ENSG00000137496	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1062452	1.00[EUR][1000 genomes]
rs12360732	0.96[MKK][hapmap]
rs5743664	1.00[EUR][1000 genomes]
rs5743669	1.00[EUR][1000 genomes]
rs5743670	1.00[EUR][1000 genomes]
rs5743676	1.00[EUR][1000 genomes]
rs5743678	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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71672200-71715200	Weak transcription	Fetal Brain Male	brain
2	chr11:71677200-71736600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:71702200-71713400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:71702200-71713800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:71705400-71734400	Strong transcription	Fetal Intestine Small	intestine
6	chr11:71706400-71717200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:71706600-71714600	Genic enhancers	Fetal Muscle Leg	muscle
8	chr11:71706600-71718000	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr11:71707600-71713200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:71709400-71723800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:71709600-71722400	Strong transcription	Fetal Brain Female	brain
12	chr11:71709600-71737000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:71709800-71714600	Weak transcription	Hela-S3	cervix
14	chr11:71709800-71717200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:71709800-71735800	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:71709800-71736600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:71709800-71748000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:71710000-71714000	Genic enhancers	Fetal Stomach	stomach
19	chr11:71710200-71735600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:71710400-71713800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:71710400-71716000	Strong transcription	A549	lung
22	chr11:71710600-71713800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:71710600-71713800	Genic enhancers	Placenta	Placenta
24	chr11:71710600-71735800	Strong transcription	Brain Germinal Matrix	brain
25	chr11:71710600-71736000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:71710800-71713200	Genic enhancers	Spleen	Spleen
27	chr11:71710800-71734200	Strong transcription	Fetal Intestine Large	intestine
28	chr11:71710800-71734800	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr11:71710800-71735600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:71710800-71735800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:71710800-71743200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:71710800-71748000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:71711000-71713400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:71711000-71714000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:71711000-71714200	Genic enhancers	Brain Anterior Caudate	brain
36	chr11:71711000-71723800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr11:71711000-71735800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:71711000-71736600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:71711000-71741800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:71711000-71748800	Strong transcription	Dnd41	blood
41	chr11:71711200-71713200	Genic enhancers	Right Ventricle	heart
42	chr11:71711200-71714600	Weak transcription	Stomach Mucosa	stomach
43	chr11:71711200-71722200	Weak transcription	Right Atrium	heart
44	chr11:71711200-71742400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr11:71711400-71713200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:71711400-71714600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:71711400-71715000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:71711400-71723400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:71711400-71723400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:71711400-71723800	Strong transcription	Liver	Liver

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