Variant report

Variant	rs61891592
Chromosome Location	chr11:67167792-67167793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67167588-67168141	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:67167483-67168238	U87	brain:	n/a	n/a
3	POLR2A	chr11:67167659-67168044	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:67167534-67169401	K562	blood:	n/a	n/a
5	STAT5A	chr11:67167743-67168696	GM12878	blood:	n/a	n/a
6	MTA3	chr11:67167786-67169120	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:67167736-67169762	Hela-S3	cervix:	n/a	n/a
8	SIN3AK20	chr11:67167774-67168361	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr11:67167668-67168208	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:67167585-67169449	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr11:67167601-67168511	Hela-S3	cervix:	n/a	n/a
12	SIN3AK20	chr11:67167643-67169907	MCF-7	breast:	n/a	n/a
13	POLR2A	chr11:67167760-67169388	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr11:67167790-67169126	A549	lung:	n/a	n/a
15	EP300	chr11:67167662-67167938	SK-N-SH_RA	brain:	n/a	n/a
16	POLR2A	chr11:67167636-67169357	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:67167462-67169942	SK-N-MC	brain:	n/a	n/a
18	PBX3	chr11:67167591-67168129	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr11:67167628-67169370	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr11:67167760-67167910	BE2_C	brain:	n/a	n/a
21	POLR2A	chr11:67167566-67168534	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr11:67167676-67168673	K562	blood:	n/a	n/a
23	POLR2A	chr11:67167656-67169846	MCF-7	breast:	n/a	n/a
24	EP300	chr11:67167548-67168346	SK-N-SH	brain:	n/a	n/a
25	EP300	chr11:67167650-67168040	SK-N-SH_RA	brain:	n/a	n/a
26	MXI1	chr11:67167517-67169951	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr11:67167489-67168016	U87	brain:	n/a	n/a
28	BCL3	chr11:67167742-67168945	A549	lung:	n/a	chr11:67168838-67168847
29	POLR2A	chr11:67167654-67169375	GM12892	blood:	n/a	n/a
30	BCL3	chr11:67167780-67168601	A549	lung:	n/a	n/a
31	POLR2A	chr11:67167655-67168527	GM12892	blood:	n/a	n/a
32	TCF12	chr11:67167510-67168129	SK-N-SH	brain:	n/a	n/a
33	PBX3	chr11:67167605-67168152	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr11:67167531-67170414	K562	blood:	n/a	n/a
35	TCF12	chr11:67167666-67168212	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr11:67167532-67169381	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr11:67167548-67169845	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:67167645-67168730	GM12892	blood:	n/a	n/a
39	POLR2A	chr11:67167546-67170073	HL-60	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67167428..67170410-chr11:67219775..67221650,2	MCF-7	breast:
2	chr11:67166766..67171737-chr11:67231413..67236466,7	K562	blood:
3	chr11:67167196..67169719-chr11:67288848..67291954,3	K562	blood:
4	chr11:67167204..67172690-chr11:67247088..67251861,6	K562	blood:
5	chr11:67165362..67170814-chr11:67205782..67211749,9	K562	blood:
6	chr11:67164456..67171429-chr11:67268926..67279263,19	K562	blood:
7	chr11:67167204..67171216-chr11:67247088..67251861,5	K562	blood:
8	chr11:67164667..67170931-chr11:67232207..67238345,15	MCF-7	breast:
9	chr11:67166559..67171272-chr11:67271633..67274655,6	MCF-7	breast:
10	chr11:67164491..67170697-chr11:67268115..67277759,17	MCF-7	breast:

No data

Variant related genes	Relation type
TBC1D10C	TF binding region
PPP1CA	TF binding region
ENSG00000110697	Chromatin interaction
ENSG00000175544	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000175514	Chromatin interaction
ENSG00000172725	Chromatin interaction
ENSG00000167791	Chromatin interaction
ENSG00000172663	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11227750	0.83[ASN][1000 genomes]
rs11227752	0.83[ASN][1000 genomes]
rs11227761	0.83[ASN][1000 genomes]
rs11227765	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11227768	0.83[ASN][1000 genomes]
rs11227770	0.83[ASN][1000 genomes]
rs11227786	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11227787	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12223898	0.83[ASN][1000 genomes]
rs12274774	0.83[ASN][1000 genomes]
rs17879849	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3730145	0.83[ASN][1000 genomes]
rs56132056	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs61758508	0.83[ASN][1000 genomes]
rs61889551	0.83[ASN][1000 genomes]
rs61889552	0.83[ASN][1000 genomes]
rs61891586	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61891588	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61891589	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61891590	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7127431	0.83[ASN][1000 genomes]
rs9630209	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers 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	271 gene(s)	inside rSNPs	diseases
2	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
4	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription 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 target site	146 gene(s)	inside rSNPs	diseases
8	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
9	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
10	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
11	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
12	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
13	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
15	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
16	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers 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	148 gene(s)	inside rSNPs	diseases
17	nsv516453	chr11:67164495-67186000	Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription 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	146 gene(s)	inside rSNPs	diseases
19	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
20	nsv897810	chr11:67166310-67196237	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
21	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 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	chr11:67160400-67167800	Weak transcription	Right Atrium	heart
2	chr11:67161200-67168000	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:67161400-67167800	Strong transcription	NHEK	skin
4	chr11:67161400-67168000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:67161600-67167800	Strong transcription	Brain Substantia Nigra	brain
6	chr11:67162800-67167800	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr11:67162800-67168000	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr11:67163000-67167800	Genic enhancers	Fetal Thymus	thymus
9	chr11:67163000-67168000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:67163000-67168800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:67163400-67167800	Genic enhancers	Primary T cells from cord blood	blood
12	chr11:67163400-67167800	Genic enhancers	Fetal Muscle Leg	muscle
13	chr11:67163400-67168000	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr11:67163800-67167800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:67163800-67167800	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr11:67164000-67167800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
17	chr11:67164000-67167800	Genic enhancers	Placenta	Placenta
18	chr11:67164000-67168000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:67164200-67167800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
20	chr11:67164200-67167800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:67164200-67168000	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr11:67164600-67167800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:67164800-67167800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
24	chr11:67164800-67167800	Genic enhancers	Right Ventricle	heart
25	chr11:67164800-67167800	Genic enhancers	K562	blood
26	chr11:67164800-67168000	Genic enhancers	Primary monocytes fromperipheralblood	blood
27	chr11:67164800-67168600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:67165200-67167800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:67165200-67167800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr11:67165200-67167800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr11:67165400-67167800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:67166000-67167800	Weak transcription	Stomach Mucosa	stomach
33	chr11:67166000-67168000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:67166000-67168000	Genic enhancers	Esophagus	oesophagus
35	chr11:67166400-67167800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:67166400-67167800	Genic enhancers	Gastric	stomach
37	chr11:67166400-67168000	Genic enhancers	Lung	lung
38	chr11:67166400-67168200	Genic enhancers	Spleen	Spleen
39	chr11:67166400-67168400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
40	chr11:67166400-67168600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:67166800-67167800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:67166800-67167800	Genic enhancers	Fetal Intestine Small	intestine
43	chr11:67166800-67167800	Genic enhancers	Fetal Stomach	stomach
44	chr11:67166800-67167800	Genic enhancers	Placenta Amnion	Placenta Amnion
45	chr11:67166800-67167800	Genic enhancers	Rectal Mucosa Donor 31	rectum
46	chr11:67166800-67168000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:67166800-67168000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:67166800-67168000	Genic enhancers	Fetal Brain Female	brain
49	chr11:67166800-67168200	Enhancers	Fetal Brain Male	brain
50	chr11:67167000-67167800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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