Variant report

Variant	rs653225
Chromosome Location	chr11:64634751-64634752
allele	G/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	11:64544826-64559210..11:64631647-64642645	GM12878	blood:
4	chr11:64634198..64636479-chr11:64855916..64857900,2	MCF-7	breast:
5	chr11:64634178..64635957-chr11:64862336..64863993,2	MCF-7	breast:
6	11:64523887-64530985..11:64631647-64642645	Hela-S3	cervix:
7	11:64620201-64626490..11:64631647-64642645	Hela-S3	cervix:
8	chr11:64633401..64635830-chr11:64781418..64782990,2	MCF-7	breast:
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
ENSG00000068976	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000187066	Chromatin interaction
ENSG00000269290	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000213465	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10897533	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1211284	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12573	0.91[ASN][1000 genomes]
rs12801172	0.91[ASN][1000 genomes]
rs17146413	0.93[ASN][1000 genomes]
rs2007521	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2077026	0.89[ASN][1000 genomes]
rs3741391	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3893108	0.96[ASN][1000 genomes]
rs3937000	0.96[ASN][1000 genomes]
rs41381745	0.93[ASN][1000 genomes]
rs4930280	0.94[ASN][1000 genomes]
rs4930281	0.96[ASN][1000 genomes]
rs4930685	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57851864	0.91[ASN][1000 genomes]
rs589556	0.91[ASN][1000 genomes]
rs602347	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs607569	0.96[ASN][1000 genomes]
rs620066	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs621608	0.89[ASN][1000 genomes]
rs622611	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs635722	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs641623	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs649208	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs654580	0.91[ASN][1000 genomes]
rs656982	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7126744	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7926812	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7927560	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7943238	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7944276	0.88[ASN][1000 genomes]
rs7952306	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7952567	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][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	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64612600-64639000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:64626400-64644800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:64629600-64638600	Enhancers	Left Ventricle	heart
4	chr11:64631000-64636200	Genic enhancers	Thymus	Thymus
5	chr11:64631600-64636000	Weak transcription	Dnd41	blood
6	chr11:64631600-64639200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:64631600-64644400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:64631800-64637000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:64632000-64635600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:64632000-64639200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:64632200-64644200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:64632400-64637000	Weak transcription	HepG2	liver
13	chr11:64632400-64638400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:64632400-64640600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:64632800-64635000	Enhancers	Fetal Muscle Trunk	muscle
16	chr11:64632800-64635200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:64632800-64635800	Genic enhancers	NHEK	skin
18	chr11:64632800-64636000	Genic enhancers	Muscle Satellite Cultured Cells	--
19	chr11:64632800-64636200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:64632800-64636600	Enhancers	Right Ventricle	heart
21	chr11:64632800-64637000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:64632800-64637400	Genic enhancers	Fetal Intestine Large	intestine
23	chr11:64633000-64635000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:64633000-64635200	Weak transcription	Fetal Brain Female	brain
25	chr11:64633000-64635200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:64633000-64635200	Weak transcription	HUVEC	blood vessel
27	chr11:64633000-64635400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:64633000-64635400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:64633000-64635400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr11:64633000-64635600	Weak transcription	Hela-S3	cervix
31	chr11:64633000-64635800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:64633000-64635800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr11:64633000-64635800	Weak transcription	Small Intestine	intestine
34	chr11:64633000-64636000	Weak transcription	Gastric	stomach
35	chr11:64633000-64636200	Weak transcription	Ovary	ovary
36	chr11:64633000-64636600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:64633000-64637000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:64633000-64637000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:64633000-64637200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:64633000-64637600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:64633000-64637800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:64633000-64638200	Weak transcription	Pancreas	Pancrea
43	chr11:64633200-64635000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:64633200-64635200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr11:64633200-64635400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:64633200-64635400	Weak transcription	Right Atrium	heart
47	chr11:64633200-64636200	Weak transcription	Brain Substantia Nigra	brain
48	chr11:64633200-64637200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:64633200-64637800	Weak transcription	Aorta	Aorta
50	chr11:64633400-64635200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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