Variant report

Variant	rs5743673
Chromosome Location	chr11:71712453-71712454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71709478..71712665-chr11:71718866..71721839,3	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
ENSG00000137497	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000137496	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10400327	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1892922	0.82[ASW][hapmap];0.92[LWK][hapmap];0.87[MKK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2096784	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57198333	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743667	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743672	1.00[CHB][hapmap]
rs5743683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743684	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]
rs5743685	1.00[CHB][hapmap]
rs58109845	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58569034	1.00[AMR][1000 genomes]
rs58860532	1.00[AMR][1000 genomes]
rs58986282	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59603657	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59704482	1.00[AMR][1000 genomes]
rs60401386	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60840528	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61225837	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102392	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs7110215	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7925196	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7932163	0.93[YRI][hapmap]
rs7945535	0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7949430	1.00[CHB][hapmap]
rs7949845	0.95[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

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	chr11:71695400-71713000	Weak transcription	Psoas Muscle	Psoas
4	chr11:71702200-71712600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:71702200-71713000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:71702200-71713400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:71702200-71713800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:71702400-71713000	Weak transcription	Fetal Kidney	kidney
9	chr11:71703000-71712800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:71705400-71734400	Strong transcription	Fetal Intestine Small	intestine
11	chr11:71706400-71717200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:71706600-71713000	Weak transcription	NH-A	brain
13	chr11:71706600-71714600	Genic enhancers	Fetal Muscle Leg	muscle
14	chr11:71706600-71718000	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr11:71707600-71713200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr11:71707800-71712800	Weak transcription	Ovary	ovary
17	chr11:71709400-71723800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:71709600-71722400	Strong transcription	Fetal Brain Female	brain
19	chr11:71709600-71737000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:71709800-71714600	Weak transcription	Hela-S3	cervix
21	chr11:71709800-71717200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:71709800-71735800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:71709800-71736600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:71709800-71748000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:71710000-71714000	Genic enhancers	Fetal Stomach	stomach
26	chr11:71710200-71735600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:71710400-71713800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:71710400-71716000	Strong transcription	A549	lung
29	chr11:71710600-71713800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:71710600-71713800	Genic enhancers	Placenta	Placenta
31	chr11:71710600-71735800	Strong transcription	Brain Germinal Matrix	brain
32	chr11:71710600-71736000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:71710800-71713200	Genic enhancers	Spleen	Spleen
34	chr11:71710800-71734200	Strong transcription	Fetal Intestine Large	intestine
35	chr11:71710800-71734800	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr11:71710800-71735600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:71710800-71735800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:71710800-71743200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:71710800-71748000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:71711000-71712600	Enhancers	Colon Smooth Muscle	Colon
41	chr11:71711000-71713000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:71711000-71713000	Genic enhancers	Lung	lung
43	chr11:71711000-71713400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:71711000-71714000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:71711000-71714200	Genic enhancers	Brain Anterior Caudate	brain
46	chr11:71711000-71723800	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr11:71711000-71735800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:71711000-71736600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:71711000-71741800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:71711000-71748800	Strong transcription	Dnd41	blood

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