Variant report

Variant	rs73496391
Chromosome Location	chr11:64639969-64639970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:64538326-64543055..11:64631647-64642645	Hela-S3	cervix:
2	11:64501239-64517861..11:64631647-64642645	H1-hESC	embryonic stem cell:	embryo
3	chr11:64639492..64642310-chr11:64884271..64886877,2	K562	blood:
4	11:64544826-64559210..11:64631647-64642645	GM12878	blood:
5	11:64523887-64530985..11:64631647-64642645	Hela-S3	cervix:
6	11:64620201-64626490..11:64631647-64642645	Hela-S3	cervix:
7	chr11:64637421..64640386-chr11:64788285..64790687,2	K562	blood:
8	chr11:64598115..64600481-chr11:64638931..64640515,2	K562	blood:
9	11:64415880-64426617..11:64631647-64642645	Hela-S3	cervix:
10	11:64530985-64535815..11:64631647-64642645	Hela-S3	cervix:
11	11:64610127-64612855..11:64631647-64642645	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000110076	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000068976	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000269290	Chromatin interaction
ENSG00000255173	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10897531	1.00[EUR][1000 genomes]
rs11231888	1.00[EUR][1000 genomes]
rs11231892	1.00[EUR][1000 genomes]
rs11824823	1.00[EUR][1000 genomes]
rs11825104	1.00[EUR][1000 genomes]
rs35197993	1.00[EUR][1000 genomes]
rs57292990	1.00[EUR][1000 genomes]
rs57983247	1.00[EUR][1000 genomes]
rs58009266	1.00[EUR][1000 genomes]
rs60568743	1.00[EUR][1000 genomes]
rs61746813	1.00[EUR][1000 genomes]
rs73474770	1.00[EUR][1000 genomes]
rs73474771	1.00[EUR][1000 genomes]
rs73474781	1.00[EUR][1000 genomes]
rs73477004	1.00[EUR][1000 genomes]
rs73477025	1.00[EUR][1000 genomes]
rs73477027	1.00[EUR][1000 genomes]
rs73479135	1.00[EUR][1000 genomes]
rs73481122	1.00[EUR][1000 genomes]
rs73494264	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73494273	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73494296	1.00[AFR][1000 genomes]
rs73495050	1.00[EUR][1000 genomes]
rs73495054	1.00[EUR][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	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
4	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
5	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
6	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv870106	chr11:64610698-64640067	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv360	chr11:64632395-64659636	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1003 gene(s)	inside rSNPs	diseases
11	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64626400-64644800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:64631600-64644400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:64632200-64644200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:64632400-64640600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:64633800-64642000	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr11:64633800-64643000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:64633800-64643400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:64633800-64643800	Genic enhancers	Spleen	Spleen
9	chr11:64635200-64640800	Genic enhancers	Fetal Thymus	thymus
10	chr11:64635200-64641000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:64635200-64643200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:64635200-64643400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
13	chr11:64635400-64643400	Genic enhancers	Lung	lung
14	chr11:64635400-64644000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:64635600-64641000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
16	chr11:64635600-64643000	Genic enhancers	Placenta	Placenta
17	chr11:64635800-64640400	Enhancers	Psoas Muscle	Psoas
18	chr11:64636000-64642000	Strong transcription	Dnd41	blood
19	chr11:64636400-64640800	Genic enhancers	Gastric	stomach
20	chr11:64636800-64640800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr11:64636800-64642600	Genic enhancers	Primary monocytes fromperipheralblood	blood
22	chr11:64637400-64641200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
23	chr11:64637600-64640200	Weak transcription	Ovary	ovary
24	chr11:64637600-64642000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:64637600-64642200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:64637800-64643200	Genic enhancers	Rectal Mucosa Donor 31	rectum
27	chr11:64637800-64643400	Genic enhancers	A549	lung
28	chr11:64638000-64643400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:64638200-64640400	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:64638200-64640400	Genic enhancers	Aorta	Aorta
31	chr11:64638200-64641000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:64638200-64641400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:64638200-64641800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
34	chr11:64638400-64641000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:64638400-64641800	Genic enhancers	Colonic Mucosa	Colon
36	chr11:64638400-64641800	Genic enhancers	Colon Smooth Muscle	Colon
37	chr11:64638400-64642200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:64638600-64640000	Strong transcription	Brain Germinal Matrix	brain
39	chr11:64638600-64640000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
40	chr11:64638600-64640400	Genic enhancers	Muscle Satellite Cultured Cells	--
41	chr11:64638600-64641000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
42	chr11:64638600-64641200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:64638600-64641200	Genic enhancers	Brain Hippocampus Middle	brain
44	chr11:64638600-64641200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
45	chr11:64638600-64641400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr11:64638600-64641800	Genic enhancers	Primary T cells fromperipheralblood	blood
47	chr11:64638600-64641800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:64638600-64642000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:64638600-64642400	Genic enhancers	Left Ventricle	heart
50	chr11:64638600-64642600	Genic enhancers	Right Ventricle	heart

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