Variant report

Variant	rs73591566
Chromosome Location	chr11:102336780-102336781
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:102336196-102336865	HL-60	blood:	n/a	chr11:102336629-102336638 chr11:102336630-102336637 chr11:102336628-102336641
2	GATA3	chr11:102336412-102336857	T-47D	breast:	n/a	n/a
3	GATA3	chr11:102336452-102336873	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102321122..102328963-chr11:102333676..102341979,14	MCF-7	breast:
2	chr11:102322392..102324341-chr11:102335198..102337319,2	K562	blood:

Variant related genes	Relation type
ENSG00000255482	TF binding region
ENSG00000255337	Chromatin interaction
ENSG00000152558	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11821503	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11826339	1.00[EUR][1000 genomes]
rs55971995	1.00[EUR][1000 genomes]
rs57366730	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57688197	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57879472	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58716619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58874026	1.00[EUR][1000 genomes]
rs58874629	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58910901	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59473983	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59728890	1.00[EUR][1000 genomes]
rs60961163	1.00[EUR][1000 genomes]
rs61525588	1.00[EUR][1000 genomes]
rs7112218	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591567	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591568	1.00[EUR][1000 genomes]
rs73591585	1.00[EUR][1000 genomes]
rs73593530	1.00[EUR][1000 genomes]
rs73593547	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv469990	chr11:102335609-102413943	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv556150	chr11:102335609-102415859	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv468854	chr11:102336617-102413943	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv556151	chr11:102336617-102413943	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102324200-102337600	Weak transcription	Lung	lung
2	chr11:102324600-102344600	Weak transcription	Colonic Mucosa	Colon
3	chr11:102326600-102337000	Weak transcription	Fetal Thymus	thymus
4	chr11:102327800-102337000	Weak transcription	Placenta	Placenta
5	chr11:102329600-102337200	Weak transcription	Fetal Lung	lung
6	chr11:102331000-102338400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:102332400-102337400	Weak transcription	Pancreas	Pancrea
8	chr11:102332400-102338600	Weak transcription	Brain Anterior Caudate	brain
9	chr11:102333200-102340800	Enhancers	Primary T cells from cord blood	blood
10	chr11:102334000-102337400	Weak transcription	Fetal Intestine Large	intestine
11	chr11:102334200-102337200	Weak transcription	Fetal Intestine Small	intestine
12	chr11:102334600-102338400	Weak transcription	Liver	Liver
13	chr11:102334800-102339200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:102334800-102345600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr11:102335000-102337000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:102335000-102337400	Enhancers	GM12878-XiMat	blood
17	chr11:102335000-102338800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr11:102335000-102339600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:102335000-102343200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr11:102335000-102343200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr11:102335000-102343600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr11:102335200-102338600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr11:102335200-102343400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:102335400-102336800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr11:102335400-102337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:102335400-102337600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr11:102335400-102337600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:102335400-102342400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:102335600-102342000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:102335800-102337000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:102335800-102337400	Weak transcription	HepG2	liver
32	chr11:102336000-102337800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:102336000-102338200	Enhancers	Primary hematopoietic stem cells	blood
34	chr11:102336400-102337000	Enhancers	HUVEC	blood vessel
35	chr11:102336400-102337200	Enhancers	Primary B cells from cord blood	blood
36	chr11:102336400-102337400	Enhancers	Brain Germinal Matrix	brain
37	chr11:102336400-102338800	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr11:102336400-102339800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr11:102336600-102336800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:102336600-102337000	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:102336600-102337200	Enhancers	Primary B cells from peripheral blood	blood
42	chr11:102336600-102338600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:102336600-102341400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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