Variant report

Variant	rs36057475
Chromosome Location	chr11:64860914-64860915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64860873-64861166	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64860579..64868255-chr11:64873377..64881831,25	K562	blood:

Variant related genes	Relation type
TMEM262	TF binding region
VPS51	TF binding region
ENSG00000254501	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000149809	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11227118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231929	0.83[ASN][1000 genomes]
rs1196048	0.99[ASN][1000 genomes]
rs2282498	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782094	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3802936	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3862374	0.83[ASN][1000 genomes]
rs477539	0.89[ASN][1000 genomes]
rs489489	0.99[ASN][1000 genomes]
rs496427	0.96[ASN][1000 genomes]
rs498636	0.83[ASN][1000 genomes]
rs548150	0.96[ASN][1000 genomes]
rs564966	0.99[ASN][1000 genomes]
rs653111	0.82[ASN][1000 genomes]
rs7123226	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7130183	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7943007	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947799	0.80[ASN][1000 genomes]
rs9971546	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv897712	chr11:64856695-64882789	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64852400-64863600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:64852600-64863200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:64852600-64863600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:64852800-64863200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:64852800-64863400	Weak transcription	Psoas Muscle	Psoas
6	chr11:64853400-64863200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:64853400-64863200	Weak transcription	Fetal Brain Male	brain
8	chr11:64853600-64863200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:64853600-64863200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:64853600-64863200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:64853800-64861800	Weak transcription	K562	blood
12	chr11:64853800-64863000	Weak transcription	NH-A	brain
13	chr11:64853800-64863200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:64853800-64863200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr11:64853800-64863200	Weak transcription	Fetal Kidney	kidney
16	chr11:64854600-64863200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:64854600-64863200	Weak transcription	NHDF-Ad	bronchial
18	chr11:64855000-64863200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:64855000-64863200	Weak transcription	Small Intestine	intestine
20	chr11:64855000-64863200	Weak transcription	Hela-S3	cervix
21	chr11:64855200-64863200	Weak transcription	HMEC	breast
22	chr11:64855200-64863200	Weak transcription	HSMMtube	muscle
23	chr11:64855400-64863200	Weak transcription	HUVEC	blood vessel
24	chr11:64855600-64863600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:64855800-64863200	Weak transcription	A549	lung
26	chr11:64856400-64863200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:64856400-64863200	Weak transcription	Stomach Mucosa	stomach
28	chr11:64856600-64862600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:64856600-64863200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:64856600-64863200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:64856800-64863000	Weak transcription	Fetal Brain Female	brain
32	chr11:64856800-64863000	Weak transcription	Left Ventricle	heart
33	chr11:64856800-64863200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:64856800-64863200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:64856800-64863200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:64856800-64863200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:64856800-64863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:64856800-64863200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:64856800-64863200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:64856800-64863200	Weak transcription	Fetal Lung	lung
41	chr11:64856800-64863200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:64856800-64863200	Weak transcription	NHEK	skin
43	chr11:64856800-64863400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:64856800-64863600	Weak transcription	Aorta	Aorta
45	chr11:64857000-64863000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:64857000-64863200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:64857000-64863200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:64857000-64863200	Weak transcription	Primary B cells from cord blood	blood
49	chr11:64857000-64863200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:64857000-64863200	Weak transcription	NHLF	lung

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