Variant report

Variant	rs5743684
Chromosome Location	chr11:71714981-71714982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71697956..71700871-chr11:71714461..71717199,2	K562	blood:
2	chr11:71714172..71716693-chr11:71724502..71727126,2	K562	blood:
3	chr11:71701372..71704130-chr11:71713984..71716251,2	K562	blood:
4	chr11:71709077..71712165-chr11:71712333..71716148,3	MCF-7	breast:
5	chr11:71709970..71712353-chr11:71713897..71715451,2	K562	blood:

Variant related genes	Relation type
ENSG00000137497	Chromatin interaction
ENSG00000137496	Chromatin interaction
ENSG00000251143	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10400327	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1540087	1.00[MEX][hapmap]
rs17162064	1.00[MEX][hapmap]
rs1892922	0.82[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2096784	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs3763796	1.00[MEX][hapmap]
rs57198333	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743667	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743673	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743683	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58109845	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58569034	1.00[AMR][1000 genomes]
rs58860532	1.00[AMR][1000 genomes]
rs58986282	1.00[AMR][1000 genomes]
rs59603657	1.00[AMR][1000 genomes]
rs59704482	1.00[AMR][1000 genomes]
rs60401386	1.00[AMR][1000 genomes]
rs60840528	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61225837	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102392	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs7109250	1.00[MEX][hapmap]
rs7110215	1.00[AMR][1000 genomes]
rs7125189	1.00[MEX][hapmap]
rs7925196	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7925545	1.00[MEX][hapmap]
rs7932163	1.00[YRI][hapmap]
rs7945535	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7949845	0.91[AFR][1000 genomes];1.00[AMR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5743684	AHSP	trans	lymphoblastoid	seeQTL

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	chr11:71705400-71734400	Strong transcription	Fetal Intestine Small	intestine
4	chr11:71706400-71717200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:71706600-71718000	Genic enhancers	Fetal Muscle Trunk	muscle
6	chr11:71709400-71723800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:71709600-71722400	Strong transcription	Fetal Brain Female	brain
8	chr11:71709600-71737000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:71709800-71717200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:71709800-71735800	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:71709800-71736600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:71709800-71748000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:71710200-71735600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:71710400-71716000	Strong transcription	A549	lung
15	chr11:71710600-71735800	Strong transcription	Brain Germinal Matrix	brain
16	chr11:71710600-71736000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:71710800-71734200	Strong transcription	Fetal Intestine Large	intestine
18	chr11:71710800-71734800	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr11:71710800-71735600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:71710800-71735800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:71710800-71743200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:71710800-71748000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:71711000-71723800	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr11:71711000-71735800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:71711000-71736600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:71711000-71741800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:71711000-71748800	Strong transcription	Dnd41	blood
28	chr11:71711200-71722200	Weak transcription	Right Atrium	heart
29	chr11:71711200-71742400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr11:71711400-71715000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:71711400-71723400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:71711400-71723400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:71711400-71723800	Strong transcription	Liver	Liver
34	chr11:71711400-71725200	Strong transcription	Thymus	Thymus
35	chr11:71711400-71735800	Strong transcription	Osteobl	bone
36	chr11:71711400-71736400	Strong transcription	GM12878-XiMat	blood
37	chr11:71711400-71747600	Strong transcription	Fetal Thymus	thymus
38	chr11:71711600-71715200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr11:71711600-71721600	Strong transcription	Brain Angular Gyrus	brain
40	chr11:71711600-71723800	Strong transcription	Adipose Nuclei	Adipose
41	chr11:71711600-71723800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr11:71711600-71724000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:71711600-71724200	Strong transcription	Colonic Mucosa	Colon
44	chr11:71711600-71735200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:71711600-71735600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:71711600-71735800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr11:71711600-71736400	Strong transcription	Primary T cells from cord blood	blood
48	chr11:71711600-71736600	Strong transcription	Fetal Lung	lung
49	chr11:71711600-71747800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:71711800-71715200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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