Variant report

Variant	rs73537512
Chromosome Location	chr11:71789337-71789338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr11:71789314-71789418	GM12878	blood:	n/a	n/a
2	TAL1	chr11:71789257-71789851	K562	blood:	n/a	n/a
3	MXI1	chr11:71789278-71792440	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
2	chr11:71750510..71752098-chr11:71789258..71791823,2	K562	blood:
3	chr11:71748762..71757629-chr11:71789138..71799261,28	MCF-7	breast:
4	chr11:71789323..71798359-chr11:71810049..71815293,14	MCF-7	breast:
5	chr11:71781171..71786362-chr11:71787519..71793039,9	K562	blood:
6	chr11:71789330..71791508-chr11:71823256..71824800,2	MCF-7	breast:

No data

Variant related genes	Relation type
LRTOMT	TF binding region
ENSG00000110200	Chromatin interaction
ENSG00000263742	Chromatin interaction
ENSG00000206783	Chromatin interaction
ENSG00000238768	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000137497	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs36029905	0.84[AFR][1000 genomes]
rs55649541	1.00[AMR][1000 genomes]
rs57438678	0.84[AFR][1000 genomes]
rs57920810	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57956403	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60163837	0.84[AFR][1000 genomes]
rs60828158	1.00[AMR][1000 genomes]
rs61740471	1.00[AMR][1000 genomes]
rs7123665	1.00[AMR][1000 genomes]
rs73527747	1.00[AMR][1000 genomes]
rs73527765	1.00[AMR][1000 genomes]
rs73533756	0.84[AFR][1000 genomes]
rs73533759	0.95[AFR][1000 genomes]
rs73533760	0.89[AFR][1000 genomes]
rs73533784	0.89[AFR][1000 genomes]
rs73533798	0.84[AFR][1000 genomes]
rs73537523	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73539517	0.84[AFR][1000 genomes]
rs73543608	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73543620	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73543646	0.89[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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71754200-71789600	Weak transcription	Fetal Brain Female	brain
2	chr11:71771600-71789800	Weak transcription	Fetal Brain Male	brain
3	chr11:71778400-71789800	Weak transcription	Brain Germinal Matrix	brain
4	chr11:71779400-71790200	Weak transcription	Thymus	Thymus
5	chr11:71780600-71790800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:71781000-71790400	Weak transcription	Primary T cells from cord blood	blood
7	chr11:71781200-71789600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:71781600-71789400	Weak transcription	Liver	Liver
9	chr11:71781600-71789600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:71781800-71789800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:71781800-71791000	Weak transcription	Aorta	Aorta
12	chr11:71782000-71789800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:71782000-71789800	Weak transcription	Stomach Mucosa	stomach
14	chr11:71782000-71790200	Weak transcription	Ovary	ovary
15	chr11:71783400-71790000	Weak transcription	Psoas Muscle	Psoas
16	chr11:71783600-71789400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:71783600-71789400	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:71783600-71789400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:71783600-71789600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:71783600-71789800	Weak transcription	Pancreas	Pancrea
21	chr11:71783600-71790200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:71783600-71790400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:71783600-71790800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:71783600-71790800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:71783800-71789400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:71783800-71789400	Weak transcription	Brain Angular Gyrus	brain
27	chr11:71783800-71789600	Weak transcription	NHLF	lung
28	chr11:71783800-71790000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:71783800-71790000	Weak transcription	Esophagus	oesophagus
30	chr11:71783800-71790000	Weak transcription	Right Atrium	heart
31	chr11:71783800-71790000	Weak transcription	Right Ventricle	heart
32	chr11:71783800-71790400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:71783800-71790400	Weak transcription	Left Ventricle	heart
34	chr11:71783800-71790400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:71783800-71790600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:71783800-71790600	Weak transcription	Gastric	stomach
37	chr11:71784000-71789400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:71784000-71789400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:71784000-71789400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:71784000-71789400	Weak transcription	HSMMtube	muscle
41	chr11:71784000-71790200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:71784000-71790200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:71784000-71790200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:71784400-71789400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:71784400-71790400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:71784400-71790800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:71784600-71789400	Weak transcription	NH-A	brain
48	chr11:71784600-71789600	Weak transcription	HSMM	muscle
49	chr11:71784800-71789400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:71784800-71789600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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