Variant report

Variant	rs61736623
Chromosome Location	chr11:64877197-64877198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64876759-64881077	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:64877018-64878410	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:64876815-64878194	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:64876705-64878347	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:64876671-64878516	HL-60	blood:	n/a	n/a
6	POLR2A	chr11:64877122-64877371	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:64876785-64878570	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:64877085-64877212	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:64876664-64877800	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:64876843-64878566	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:64876869-64881240	K562	blood:	n/a	n/a
12	POLR2A	chr11:64876227-64885692	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:64876935-64881334	K562	blood:	n/a	n/a
14	POLR2A	chr11:64876899-64877207	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:64876822-64878504	HL-60	blood:	n/a	n/a
16	POLR2A	chr11:64876687-64878556	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:64876996-64877299	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:64876666-64887064	K562	blood:	n/a	n/a
19	POLR2A	chr11:64876107-64881210	GM12878	blood:	n/a	n/a
20	CTCF	chr11:64877100-64877310	AG04449	skin:	n/a	n/a
21	POLR2A	chr11:64876945-64886917	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr11:64876613-64878216	K562	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64845914..64848765-chr11:64874979..64877656,2	MCF-7	breast:
2	chr11:64860579..64868255-chr11:64873377..64881831,25	K562	blood:
3	chr11:64877106..64879107-chr11:64941043..64943277,3	K562	blood:
4	chr11:64792804..64795022-chr11:64876494..64879449,2	K562	blood:
5	chr11:64849359..64854600-chr11:64874292..64883144,16	MCF-7	breast:
6	chr11:64682540..64686355-chr11:64876478..64880305,4	K562	blood:
7	chr11:64643787..64646984-chr11:64875593..64882466,11	MCF-7	breast:
8	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
9	chr11:64779881..64786783-chr11:64876081..64880870,13	MCF-7	breast:
10	chr11:64849456..64854518-chr11:64877116..64882654,9	K562	blood:
11	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
12	chr11:64544232..64545982-chr11:64875134..64877801,2	MCF-7	breast:
13	chr11:64807050..64811411-chr11:64876533..64881108,6	MCF-7	breast:
14	chr11:64876667..64879055-chr11:65292718..65294570,2	K562	blood:
15	chr11:64576531..64579028-chr11:64877071..64879656,2	MCF-7	breast:
16	chr11:64877165..64880640-chr11:64955591..64959412,3	K562	blood:
17	chr11:64606648..64614730-chr11:64876453..64886748,20	MCF-7	breast:

No data

Variant related genes	Relation type
VPS51	TF binding region
TM7SF2	TF binding region
ENSG00000133895	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000249251	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000142186	Chromatin interaction
ENSG00000168061	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11227112	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11539360	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11546366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12099121	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12270532	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12281324	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281698	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286839	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295393	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2276021	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7105558	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105865	1.00[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	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
3	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
4	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64864200-64879400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:64864400-64878000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:64864800-64878200	Weak transcription	NHDF-Ad	bronchial
4	chr11:64864800-64878600	Weak transcription	Small Intestine	intestine
5	chr11:64864800-64879400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:64865000-64878000	Strong transcription	Fetal Intestine Small	intestine
7	chr11:64865000-64879000	Weak transcription	Fetal Kidney	kidney
8	chr11:64865200-64877800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:64865400-64877600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:64866000-64877400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:64866200-64877600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:64866200-64878000	Weak transcription	Fetal Brain Male	brain
13	chr11:64866200-64878000	Weak transcription	HMEC	breast
14	chr11:64866400-64877600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:64866400-64878000	Weak transcription	K562	blood
16	chr11:64866800-64877800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:64866800-64878000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:64866800-64878000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:64868800-64877600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:64868800-64877600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:64869000-64877800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:64869400-64877800	Weak transcription	Primary B cells from cord blood	blood
23	chr11:64869600-64878000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:64870000-64877600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:64870200-64878000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:64870200-64878000	Weak transcription	HUVEC	blood vessel
27	chr11:64870200-64878000	Weak transcription	Osteobl	bone
28	chr11:64871000-64879000	Weak transcription	NH-A	brain
29	chr11:64871400-64879200	Weak transcription	HSMM	muscle
30	chr11:64871400-64879400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr11:64871600-64877600	Strong transcription	Primary T cells from cord blood	blood
32	chr11:64871800-64877400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr11:64871800-64878000	Weak transcription	HSMMtube	muscle
34	chr11:64872000-64877600	Strong transcription	Thymus	Thymus
35	chr11:64872000-64878000	Weak transcription	Stomach Mucosa	stomach
36	chr11:64872200-64878000	Strong transcription	Placenta	Placenta
37	chr11:64872400-64877400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr11:64872600-64877400	Weak transcription	Fetal Heart	heart
39	chr11:64872600-64878000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:64872800-64877600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:64872800-64877600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr11:64872800-64877600	Strong transcription	Fetal Thymus	thymus
43	chr11:64872800-64877600	Strong transcription	Dnd41	blood
44	chr11:64872800-64877800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:64872800-64878000	Strong transcription	Fetal Stomach	stomach
46	chr11:64873000-64877400	Strong transcription	Liver	Liver
47	chr11:64873000-64877600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:64873000-64877600	Strong transcription	Brain Hippocampus Middle	brain
49	chr11:64873000-64877600	Strong transcription	Fetal Muscle Leg	muscle
50	chr11:64873200-64877600	Strong transcription	Adipose Nuclei	Adipose

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