Variant report

Variant	rs73494160
Chromosome Location	chr11:63687857-63687858
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	chr11:63685877-63688450	HepG2	liver:	n/a	n/a
2	TAF1	chr11:63687634-63687959	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr11:63686148-63688089	H1-hESC	embryonic stem cell:	n/a	chr11:63686891-63686901 chr11:63687038-63687048 chr11:63687037-63687048 chr11:63687038-63687047 chr11:63687036-63687049 chr11:63686582-63686591 chr11:63687038-63687048 chr11:63687858-63687868 chr11:63687037-63687048 chr11:63687033-63687052 chr11:63687036-63687049 chr11:63687037-63687048 chr11:63688023-63688033
4	MAZ	chr11:63687788-63687928	K562	blood:	n/a	chr11:63687858-63687868
5	POLR2A	chr11:63687621-63687995	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:63686550-63687941	H1-hESC	embryonic stem cell:	n/a	n/a
7	RCOR1	chr11:63687561-63687857	HepG2	liver:	n/a	n/a
8	HNF4A	chr11:63687633-63687956	HepG2	liver:	n/a	chr11:63687767-63687781 chr11:63687767-63687780 chr11:63687767-63687781
9	POLR2A	chr11:63687368-63688094	HCT-116	colon:	n/a	n/a
10	POLR2A	chr11:63686586-63688125	HepG2	liver:	n/a	n/a
11	TAF1	chr11:63685169-63688081	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:63685008-63688175	HCT-116	colon:	n/a	n/a
13	MAX	chr11:63686473-63689025	HepG2	liver:	n/a	chr11:63686891-63686901 chr11:63687038-63687048 chr11:63687037-63687048 chr11:63687038-63687047 chr11:63687036-63687049 chr11:63686582-63686591 chr11:63687038-63687048 chr11:63687858-63687868 chr11:63688205-63688215 chr11:63687037-63687048 chr11:63688568-63688577 chr11:63687033-63687052 chr11:63687036-63687049 chr11:63687037-63687048 chr11:63688565-63688575 chr11:63688023-63688033
14	HDAC2	chr11:63687613-63687929	HepG2	liver:	n/a	n/a
15	HEY1	chr11:63687474-63687969	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:63687548-63688035	HepG2	liver:	n/a	n/a
17	CEBPB	chr11:63687755-63687952	HepG2	liver:	n/a	n/a
18	MAX	chr11:63687690-63687996	HepG2	liver:	n/a	chr11:63687858-63687868
19	TBP	chr11:63687636-63687885	HepG2	liver:	n/a	n/a
20	CEBPD	chr11:63687598-63688129	HepG2	liver:	n/a	n/a
21	MAZ	chr11:63687609-63688243	HepG2	liver:	n/a	chr11:63687858-63687868 chr11:63688205-63688215 chr11:63688023-63688033
22	SIN3A	chr11:63686290-63688939	H1-hESC	embryonic stem cell:	n/a	chr11:63687039-63687048 chr11:63687868-63687877 chr11:63687861-63687874 chr11:63686912-63686923 chr11:63686894-63686905 chr11:63688097-63688108
23	HMGN3	chr11:63687834-63688022	K562	blood:	n/a	n/a
24	ZNF143	chr11:63687615-63687985	H1-hESC	embryonic stem cell:	n/a	n/a
25	HEY1	chr11:63686650-63688131	HepG2	liver:	n/a	chr11:63686906-63686921
26	JUND	chr11:63687649-63687922	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:63686809-63688083	HepG2	liver:	n/a	n/a
28	HNF4A	chr11:63687547-63687925	HepG2	liver:	n/a	chr11:63687767-63687781 chr11:63687767-63687780 chr11:63687767-63687781
29	E2F6	chr11:63686661-63687949	H1-hESC	embryonic stem cell:	n/a	chr11:63687199-63687210 chr11:63687201-63687216 chr11:63687199-63687209 chr11:63686898-63686908 chr11:63687861-63687871
30	MYC	chr11:63687766-63688045	HepG2	liver:	n/a	chr11:63687858-63687868 chr11:63688023-63688033
31	CTBP2	chr11:63684917-63689153	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr11:63687579-63687904	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr11:63686555-63688040	HepG2	liver:	n/a	chr11:63686891-63686901 chr11:63687038-63687048 chr11:63687037-63687048 chr11:63687038-63687047 chr11:63687036-63687049 chr11:63686582-63686591 chr11:63687038-63687048 chr11:63687858-63687868 chr11:63687037-63687048 chr11:63687033-63687052 chr11:63687036-63687049 chr11:63687037-63687048 chr11:63688023-63688033
34	POLR2A	chr11:63685180-63688073	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAF7	chr11:63687486-63687987	H1-hESC	embryonic stem cell:	n/a	n/a
36	HNF4G	chr11:63687567-63687947	HepG2	liver:	n/a	chr11:63687767-63687781 chr11:63687767-63687780 chr11:63687767-63687781 chr11:63687765-63687780
37	POLR2A	chr11:63687428-63688143	HCT-116	colon:	n/a	n/a
38	POLR2A	chr11:63684972-63689200	H1-hESC	embryonic stem cell:	n/a	n/a
39	TAF1	chr11:63687649-63688070	HepG2	liver:	n/a	n/a
40	POLR2A	chr11:63686747-63688137	HepG2	liver:	n/a	n/a
41	POLR2A	chr11:63683767-63688286	H1-hESC	embryonic stem cell:	n/a	n/a
42	MYBL2	chr11:63687315-63688105	HepG2	liver:	n/a	n/a
43	MXI1	chr11:63686805-63688009	HepG2	liver:	n/a	chr11:63687039-63687048 chr11:63687039-63687048
44	TBP	chr11:63686243-63688019	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr11:63685144-63688061	H1-hESC	embryonic stem cell:	n/a	chr11:63686891-63686901 chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63687038-63687048 chr11:63687037-63687048 chr11:63685582-63685592 chr11:63687038-63687047 chr11:63687036-63687049 chr11:63686582-63686591 chr11:63687038-63687048 chr11:63687858-63687868 chr11:63687037-63687048 chr11:63685551-63685562 chr11:63687033-63687052 chr11:63687036-63687049 chr11:63687037-63687048 chr11:63685551-63685562 chr11:63688023-63688033
46	POLR2A	chr11:63685220-63688086	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr11:63687411-63688027	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63605364..63607931-chr11:63685287..63688151,2	MCF-7	breast:
2	chr11:63687365..63689977-chr11:63690538..63692122,2	K562	blood:
3	chr11:63686655..63689035-chr11:63752161..63754305,2	K562	blood:
4	chr11:63687502..63689214-chr11:63695496..63697632,2	MCF-7	breast:
5	chr11:63682343..63688338-chr11:63931257..63935493,5	K562	blood:
6	chr11:63686068..63688913-chr11:63752506..63754962,2	MCF-7	breast:
7	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
8	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
9	chr11:63683295..63687930-chr11:63703819..63708534,6	MCF-7	breast:

Variant related genes	Relation type
RCOR2	TF binding region
ENSG00000110583	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000167770	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11825727	1.00[AMR][1000 genomes]
rs57058815	1.00[AMR][1000 genomes]
rs58822345	1.00[AMR][1000 genomes]
rs59054123	1.00[AMR][1000 genomes]
rs59146342	1.00[AMR][1000 genomes]
rs60725842	1.00[AMR][1000 genomes]
rs61184552	1.00[AMR][1000 genomes]
rs7125886	1.00[AMR][1000 genomes]
rs73492260	1.00[AMR][1000 genomes]
rs73492262	1.00[AMR][1000 genomes]
rs73492266	1.00[AMR][1000 genomes]
rs73492273	1.00[AMR][1000 genomes]
rs73492274	1.00[AMR][1000 genomes]
rs73492287	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492297	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494110	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494112	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494126	1.00[AMR][1000 genomes]
rs73494128	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494144	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494167	1.00[AMR][1000 genomes]
rs73494181	1.00[AMR][1000 genomes]
rs73496034	1.00[AMR][1000 genomes]
rs73496075	1.00[AMR][1000 genomes]
rs73496090	1.00[AMR][1000 genomes]
rs73496096	1.00[AMR][1000 genomes]
rs73496099	1.00[AMR][1000 genomes]
rs73496100	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	254 gene(s)	inside rSNPs	diseases
9	nsv897632	chr11:63670787-63688693	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv897633	chr11:63670787-63691049	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv897634	chr11:63670787-63698538	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv897635	chr11:63674926-63688693	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv897636	chr11:63676067-63688693	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv897637	chr11:63676067-63691049	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv897638	chr11:63676562-63688693	Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63682600-63688800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:63683200-63688800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:63684600-63688400	Enhancers	Fetal Brain Male	brain
4	chr11:63684800-63688000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:63684800-63688000	Flanking Active TSS	Colonic Mucosa	Colon
6	chr11:63684800-63688000	Flanking Active TSS	Fetal Muscle Leg	muscle
7	chr11:63684800-63688000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr11:63684800-63688200	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr11:63684800-63688200	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr11:63685000-63688400	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr11:63685400-63688600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:63685400-63688600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr11:63685400-63688800	Enhancers	Fetal Lung	lung
14	chr11:63685400-63689000	Enhancers	Spleen	Spleen
15	chr11:63685600-63688600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:63685600-63688600	Enhancers	Pancreas	Pancrea
17	chr11:63685600-63688800	Enhancers	Fetal Thymus	thymus
18	chr11:63686000-63688000	Enhancers	Aorta	Aorta
19	chr11:63686000-63688800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:63686400-63688600	Enhancers	A549	lung
21	chr11:63686600-63688200	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr11:63686800-63688200	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr11:63687000-63688000	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr11:63687000-63689000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:63687200-63688000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr11:63687200-63688000	Enhancers	Lung	lung
27	chr11:63687200-63688200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr11:63687200-63688200	Enhancers	Ovary	ovary
29	chr11:63687200-63688200	Enhancers	NHLF	lung
30	chr11:63687200-63688400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:63687200-63688400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr11:63687200-63688600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr11:63687200-63688600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:63687200-63688800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:63687400-63688000	Genic enhancers	Right Atrium	heart
36	chr11:63687400-63688200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:63687400-63688200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr11:63687400-63688200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:63687400-63688400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr11:63687400-63688400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:63687400-63688400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr11:63687400-63688600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr11:63687400-63688600	Enhancers	Colon Smooth Muscle	Colon
44	chr11:63687400-63688800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:63687400-63688800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr11:63687400-63689600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:63687600-63688000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:63687600-63688000	Enhancers	Esophagus	oesophagus
49	chr11:63687600-63688000	Enhancers	Psoas Muscle	Psoas
50	chr11:63687600-63688000	Enhancers	Skeletal Muscle Female	skeletal muscle

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