Variant report

Variant	rs5743669
Chromosome Location	chr11:71711864-71711865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71709478..71712665-chr11:71718866..71721839,3	K562	blood:
2	chr11:71711624..71714587-chr11:71941386..71943699,2	K562	blood:

Variant related genes	Relation type
ENSG00000137497	Chromatin interaction
ENSG00000165458	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1062452	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28395796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35501875	0.85[AFR][1000 genomes]
rs3763797	0.85[AFR][1000 genomes]
rs5743655	1.00[ASN][1000 genomes]
rs5743662	1.00[ASN][1000 genomes]
rs5743664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5743670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5743675	1.00[EUR][1000 genomes]
rs5743676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5743678	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61749192	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs951586	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	chr11:71695400-71712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:71695400-71713000	Weak transcription	Psoas Muscle	Psoas
5	chr11:71699600-71712400	Weak transcription	Aorta	Aorta
6	chr11:71702200-71712600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:71702200-71713000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:71702200-71713400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:71702200-71713800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:71702400-71713000	Weak transcription	Fetal Kidney	kidney
11	chr11:71703000-71712800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:71705400-71734400	Strong transcription	Fetal Intestine Small	intestine
13	chr11:71706000-71712000	Weak transcription	NHEK	skin
14	chr11:71706400-71717200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:71706600-71713000	Weak transcription	NH-A	brain
16	chr11:71706600-71714600	Genic enhancers	Fetal Muscle Leg	muscle
17	chr11:71706600-71718000	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr11:71707600-71713200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:71707800-71712800	Weak transcription	Ovary	ovary
20	chr11:71708200-71712400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:71709000-71712200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:71709400-71723800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:71709600-71722400	Strong transcription	Fetal Brain Female	brain
24	chr11:71709600-71737000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:71709800-71714600	Weak transcription	Hela-S3	cervix
26	chr11:71709800-71717200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:71709800-71735800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:71709800-71736600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:71709800-71748000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:71710000-71714000	Genic enhancers	Fetal Stomach	stomach
31	chr11:71710200-71735600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:71710400-71713800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:71710400-71716000	Strong transcription	A549	lung
34	chr11:71710600-71713800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:71710600-71713800	Genic enhancers	Placenta	Placenta
36	chr11:71710600-71735800	Strong transcription	Brain Germinal Matrix	brain
37	chr11:71710600-71736000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:71710800-71712000	Weak transcription	Primary B cells from cord blood	blood
39	chr11:71710800-71712200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr11:71710800-71712200	Weak transcription	HUVEC	blood vessel
41	chr11:71710800-71713200	Genic enhancers	Spleen	Spleen
42	chr11:71710800-71734200	Strong transcription	Fetal Intestine Large	intestine
43	chr11:71710800-71734800	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr11:71710800-71735600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:71710800-71735800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:71710800-71743200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:71710800-71748000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:71711000-71712200	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr11:71711000-71712200	Weak transcription	HMEC	breast
50	chr11:71711000-71712400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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