Variant report

Variant	rs613352
Chromosome Location	chr11:64798628-64798629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64798626-64798793	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64759655..64763074-chr11:64796626..64799324,3	K562	blood:
2	chr11:64781097..64784077-chr11:64798309..64801053,4	MCF-7	breast:
3	chr11:64798286..64800870-chr11:64805869..64808336,2	K562	blood:
4	chr11:64798559..64800462-chr11:64801916..64804086,2	K562	blood:
5	chr11:64794902..64797457-chr11:64797903..64800553,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270775	TF binding region
ENSG00000110025	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000213465	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10160811	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10792455	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17146589	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2670910	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34589041	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs473587	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs481446	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs484147	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs494837	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs495820	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs495935	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs497023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs500464	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs533164	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533301	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542175	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs550771	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs561524	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs584698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608772	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs633671	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs664118	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs689361	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' 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	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64795200-64799000	Weak transcription	Spleen	Spleen
2	chr11:64795200-64799400	Weak transcription	Esophagus	oesophagus
3	chr11:64795200-64799800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:64795200-64808000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:64795400-64799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:64795400-64808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:64795600-64808000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:64795800-64798800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:64795800-64802400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:64795800-64805000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:64795800-64807800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:64795800-64807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:64795800-64808000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:64795800-64808000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:64796000-64798800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:64796000-64799400	Weak transcription	Thymus	Thymus
17	chr11:64796000-64799800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:64796000-64800600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:64796000-64801400	Weak transcription	Aorta	Aorta
20	chr11:64796000-64803000	Weak transcription	HSMMtube	muscle
21	chr11:64796000-64805000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:64796000-64805000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:64796000-64807400	Weak transcription	Stomach Mucosa	stomach
24	chr11:64796000-64807600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:64796000-64807800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:64796000-64807800	Weak transcription	Fetal Kidney	kidney
27	chr11:64796000-64808000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr11:64796200-64798800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr11:64796200-64798800	Weak transcription	Adipose Nuclei	Adipose
30	chr11:64796200-64798800	Weak transcription	Liver	Liver
31	chr11:64796200-64798800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:64796200-64798800	Weak transcription	Fetal Thymus	thymus
33	chr11:64796200-64799000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:64796200-64799000	Weak transcription	Ovary	ovary
35	chr11:64796200-64799000	Weak transcription	Right Ventricle	heart
36	chr11:64796200-64799200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:64796200-64799200	Weak transcription	Fetal Lung	lung
38	chr11:64796200-64799400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:64796200-64799400	Weak transcription	Primary T cells from cord blood	blood
40	chr11:64796200-64799400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:64796200-64799400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:64796200-64799400	Weak transcription	Fetal Brain Female	brain
43	chr11:64796200-64799400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:64796200-64799600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:64796200-64799600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:64796200-64799600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:64796200-64799600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:64796200-64799600	Weak transcription	Brain Angular Gyrus	brain
49	chr11:64796200-64800000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:64796200-64801600	Weak transcription	Brain Substantia Nigra	brain

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