Variant report

Variant	rs7945873
Chromosome Location	chr11:62518863-62518864
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62518679..62523882-chr11:62607116..62611230,13	K562	blood:
2	chr11:62518863..62523305-chr11:62619900..62623516,4	K562	blood:
3	chr11:62432126..62434640-chr11:62518559..62521343,5	MCF-7	breast:
4	chr11:62508705..62510383-chr11:62516896..62519171,2	K562	blood:
5	chr11:62518331..62523032-chr11:62553860..62556353,4	K562	blood:
6	chr11:62491539..62497784-chr11:62516835..62523459,19	MCF-7	breast:
7	chr11:62500518..62507069-chr11:62517079..62523179,7	MCF-7	breast:
8	chr11:62413037..62415350-chr11:62517967..62520723,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185475	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000255717	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12291596	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs528616	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6912	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103034	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7104235	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7107423	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110307	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7113951	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7114249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7115869	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7126157	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong 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	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
6	nsv348	chr11:62474450-62519712	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 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	chr11:62496800-62521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:62497400-62520400	Weak transcription	Psoas Muscle	Psoas
3	chr11:62497600-62519400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:62497800-62519600	Weak transcription	Gastric	stomach
5	chr11:62499000-62520800	Weak transcription	Fetal Brain Male	brain
6	chr11:62499200-62520800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:62503200-62520800	Weak transcription	HUVEC	blood vessel
8	chr11:62506200-62520800	Weak transcription	HSMM	muscle
9	chr11:62506400-62520800	Weak transcription	HSMMtube	muscle
10	chr11:62506400-62521000	Weak transcription	Small Intestine	intestine
11	chr11:62506600-62519400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:62506600-62519400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:62506600-62519600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:62506600-62519800	Weak transcription	HMEC	breast
15	chr11:62506600-62520800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:62507000-62520200	Weak transcription	Colonic Mucosa	Colon
17	chr11:62507200-62520600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:62507200-62520800	Weak transcription	HepG2	liver
19	chr11:62507600-62519400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:62507600-62519600	Weak transcription	Ovary	ovary
21	chr11:62507600-62519600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:62507600-62519600	Weak transcription	Right Ventricle	heart
23	chr11:62507600-62519800	Weak transcription	Fetal Lung	lung
24	chr11:62507800-62519400	Weak transcription	Esophagus	oesophagus
25	chr11:62507800-62519600	Weak transcription	Hela-S3	cervix
26	chr11:62507800-62520800	Weak transcription	NH-A	brain
27	chr11:62508200-62519600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:62508400-62519600	Weak transcription	A549	lung
29	chr11:62508600-62519600	Weak transcription	Aorta	Aorta
30	chr11:62508600-62519800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:62508600-62520400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:62508800-62519400	Weak transcription	Fetal Intestine Large	intestine
33	chr11:62508800-62519400	Weak transcription	Left Ventricle	heart
34	chr11:62509000-62519600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:62509000-62519600	Weak transcription	Lung	lung
36	chr11:62509000-62520400	Weak transcription	GM12878-XiMat	blood
37	chr11:62509000-62520600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:62509000-62520800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:62509200-62519400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:62509200-62519400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:62509200-62520400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:62509200-62520400	Weak transcription	Brain Germinal Matrix	brain
43	chr11:62509400-62519600	Weak transcription	Liver	Liver
44	chr11:62509600-62519400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:62509600-62519600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:62509600-62519600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:62509600-62519600	Weak transcription	NHLF	lung
48	chr11:62509600-62519600	Weak transcription	Osteobl	bone
49	chr11:62509800-62519600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:62515200-62519400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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