Variant report

Variant	rs73500729
Chromosome Location	chr11:77302092-77302093
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:77300040..77302166-chr11:77305563..77307325,2	MCF-7	breast:
2	chr11:77300746..77302485-chr11:77346924..77348816,2	MCF-7	breast:
3	chr11:77299407..77303220-chr11:77304055..77306866,3	MCF-7	breast:
4	chr11:77276333..77280198-chr11:77299604..77302208,3	MCF-7	breast:
5	chr11:77299067..77304108-chr11:77304115..77308042,7	K562	blood:

Variant related genes	Relation type
ENSG00000074201	Chromatin interaction
ENSG00000238880	Chromatin interaction
ENSG00000271767	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs35216705	1.00[AMR][1000 genomes]
rs56709311	1.00[AMR][1000 genomes]
rs57008614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57229097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57544945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58758035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59231807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59293034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60695213	1.00[AMR][1000 genomes]
rs60704733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61186004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493811	1.00[AFR][1000 genomes]
rs73493813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493884	1.00[AMR][1000 genomes]
rs73498844	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498845	1.00[AMR][1000 genomes]
rs73498851	1.00[AMR][1000 genomes]
rs73498854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500705	1.00[AMR][1000 genomes]
rs73500735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500756	1.00[AMR][1000 genomes]
rs73500773	1.00[AMR][1000 genomes]
rs73504713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504718	1.00[AMR][1000 genomes]
rs73504734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504744	1.00[AMR][1000 genomes]
rs73504765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506724	1.00[AMR][1000 genomes]
rs73506730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508738	1.00[AFR][1000 genomes]
rs73508749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription 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	29 gene(s)	inside rSNPs	diseases
5	esv2752651	chr11:77211136-77318279	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1038974	chr11:77284036-77431228	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1041384	chr11:77284558-77419809	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1048892	chr11:77290458-77431228	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv1053074	chr11:77290458-77435831	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv468641	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv555452	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77299800-77302400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:77299800-77302400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:77300200-77302200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr11:77300200-77302800	Active TSS	Fetal Intestine Large	intestine
5	chr11:77300200-77303200	Active TSS	Ovary	ovary
6	chr11:77300400-77304000	Active TSS	Fetal Intestine Small	intestine
7	chr11:77301200-77302200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:77301200-77302200	Flanking Active TSS	Liver	Liver
9	chr11:77301400-77302200	Active TSS	NHLF	lung
10	chr11:77301400-77308000	Weak transcription	Hela-S3	cervix
11	chr11:77301400-77346000	Weak transcription	Small Intestine	intestine
12	chr11:77301600-77302200	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr11:77301600-77302200	Flanking Active TSS	A549	lung
14	chr11:77301600-77302200	Strong transcription	Dnd41	blood
15	chr11:77301600-77305200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:77301600-77312600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:77301600-77312800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:77301600-77312800	Weak transcription	HMEC	breast
19	chr11:77301600-77313400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:77301600-77317200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:77301600-77317800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr11:77301600-77318600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:77301600-77332800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:77301800-77302200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:77301800-77302200	Active TSS	Brain Germinal Matrix	brain
26	chr11:77301800-77302200	Flanking Active TSS	NHDF-Ad	bronchial
27	chr11:77301800-77303000	Active TSS	Duodenum Mucosa	Duodenum
28	chr11:77301800-77303000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr11:77301800-77306800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:77301800-77312400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:77301800-77312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:77301800-77313000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:77301800-77313800	Weak transcription	Left Ventricle	heart
34	chr11:77301800-77316200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:77301800-77316600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:77301800-77317200	Weak transcription	Fetal Muscle Leg	muscle
37	chr11:77301800-77318200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:77301800-77322400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr11:77301800-77326600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:77301800-77332200	Weak transcription	Esophagus	oesophagus
41	chr11:77301800-77345800	Weak transcription	Spleen	Spleen
42	chr11:77302000-77302200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr11:77302000-77302200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr11:77302000-77302200	Weak transcription	Primary B cells from cord blood	blood
45	chr11:77302000-77302200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:77302000-77302200	Enhancers	Brain Anterior Caudate	brain
47	chr11:77302000-77302200	Active TSS	Brain Cingulate Gyrus	brain
48	chr11:77302000-77302200	Active TSS	Fetal Brain Female	brain
49	chr11:77302000-77302200	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr11:77302000-77302400	Weak transcription	Brain Angular Gyrus	brain

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