Variant report

Variant	rs527386031
Chromosome Location	chr11:63767652-63767653
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	chr11:63767468-63767672	U87	brain:	n/a	n/a
2	POLR2A	chr11:63765985-63768345	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:63767102-63768465	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:63765064-63767984	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:63766389-63768188	U87	brain:	n/a	n/a
6	CTCF	chr11:63767640-63767790	GM12868	blood:	n/a	chr11:63767672-63767685
7	POLR2A	chr11:63763487-63769382	K562	blood:	n/a	n/a
8	ELF1	chr11:63767536-63768367	GM12878	blood:	n/a	chr11:63768129-63768141 chr11:63768252-63768264 chr11:63767949-63767961 chr11:63767943-63767955
9	POLR2A	chr11:63762807-63767952	GM12892	blood:	n/a	n/a
10	CTCF	chr11:63767580-63767730	HMEC	breast:	n/a	chr11:63767672-63767685
11	CTCF	chr11:63767640-63767790	SAEC	small airway:	n/a	chr11:63767672-63767685
12	MTA3	chr11:63766598-63768072	GM12878	blood:	n/a	n/a
13	CTCF	chr11:63767560-63767710	GM12871	blood:	n/a	chr11:63767672-63767685
14	POLR2A	chr11:63766096-63768007	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:63765786-63767872	K562	blood:	n/a	n/a
16	CTCF	chr11:63767520-63767670	HMF	breast:	n/a	n/a
17	CTCF	chr11:63767600-63767750	HFF-Myc	foreskin:	n/a	chr11:63767672-63767685
18	ZNF263	chr11:63766930-63767813	HEK293-T-REx	kidney:	n/a	n/a
19	RUNX3	chr11:63767607-63767837	GM12878	blood:	n/a	n/a
20	CTCF	chr11:63767520-63767670	HRE	kidney:	n/a	n/a
21	POLR2A	chr11:63764879-63767892	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr11:63767588-63768318	GM18951	blood:	n/a	n/a
23	POLR2A	chr11:63767642-63768329	A549	lung:	n/a	n/a
24	POLR2A	chr11:63766445-63768098	U87	brain:	n/a	n/a
25	POLR2A	chr11:63767439-63767905	HUVEC	blood vessel:	n/a	n/a
26	SIN3AK20	chr11:63767590-63767838	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr11:63765179-63767745	GM12892	blood:	n/a	n/a
28	CTCF	chr11:63767540-63767690	HUVEC	blood vessel:	n/a	chr11:63767672-63767685
29	POLR2A	chr11:63766598-63768175	GM19193	blood:	n/a	n/a
30	POLR2A	chr11:63765335-63768311	GM12878	blood:	n/a	n/a
31	CTCF	chr11:63767620-63767770	HBMEC	blood vessel:	n/a	chr11:63767672-63767685
32	POLR2A	chr11:63766298-63768010	GM12891	blood:	n/a	n/a
33	POLR2A	chr11:63766152-63767797	GM18505	blood:	n/a	n/a
34	STAT5A	chr11:63767002-63767978	GM12878	blood:	n/a	chr11:63767035-63767047 chr11:63767039-63767051 chr11:63767963-63767975
35	CTCF	chr11:63767600-63767750	GM12873	blood:	n/a	chr11:63767672-63767685
36	CTCF	chr11:63767540-63767690	HBMEC	blood vessel:	n/a	chr11:63767672-63767685
37	POLR2A	chr11:63765309-63768451	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:63765114-63768623	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr11:63767243-63767952	K562	blood:	n/a	n/a
40	POLR2A	chr11:63767588-63767937	GM12891	blood:	n/a	n/a
41	NANOG	chr11:63767605-63767865	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr11:63767641-63767652	GM12891	blood:	n/a	n/a
43	CTCF	chr11:63767620-63767770	GM12870	blood:	n/a	chr11:63767672-63767685
44	RAD21	chr11:63767580-63768426	H1-hESC	embryonic stem cell:	n/a	chr11:63768050-63768069 chr11:63768055-63768065
45	CTCF	chr11:63767560-63767710	HUVEC	blood vessel:	n/a	chr11:63767672-63767685

No.	Distal block	Cell Line	Cell type
1	chr11:63765613..63767970-chr11:63932144..63934171,3	MCF-7	breast:
2	chr11:63740468..63742451-chr11:63765485..63768295,3	K562	blood:
3	chr11:63766001..63768236-chr11:63932252..63933831,2	MCF-7	breast:
4	chr11:63766704..63768642-chr11:63953085..63955113,2	MCF-7	breast:
5	chr11:63765241..63769899-chr11:63951624..63954334,5	MCF-7	breast:
6	chr11:63752288..63756029-chr11:63763681..63768717,11	MCF-7	breast:

Variant related genes	Relation type
MACROD1	TF binding region
OTUB1	TF binding region
ENSG00000176340	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000133315	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 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	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
3	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
4	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
5	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
6	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
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv897640	chr11:63744152-63835611	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv897641	chr11:63744152-63844683	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
15	nsv897643	chr11:63754986-63844683	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv897644	chr11:63754986-63849330	Bivalent Enhancer Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv897645	chr11:63754986-63859751	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
19	nsv897647	chr11:63755961-63835611	Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
20	nsv897648	chr11:63761169-63774370	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
21	nsv897649	chr11:63761169-63844683	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
22	nsv897650	chr11:63761169-63849330	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
23	nsv897651	chr11:63761169-63863405	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
24	nsv897652	chr11:63761169-63866959	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
25	nsv897653	chr11:63761169-63875456	Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
26	esv3340630	chr11:63766801-63769349	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr11:63755000-63769000	Weak transcription	Fetal Kidney	kidney
2	chr11:63755200-63775200	Weak transcription	Psoas Muscle	Psoas
3	chr11:63756200-63769200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:63759200-63774800	Weak transcription	HSMMtube	muscle
5	chr11:63760600-63771800	Strong transcription	Dnd41	blood
6	chr11:63762600-63777800	Weak transcription	Hela-S3	cervix
7	chr11:63764200-63768400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:63764800-63772000	Weak transcription	HepG2	liver
9	chr11:63765000-63769400	Weak transcription	HSMM	muscle
10	chr11:63765000-63774200	Weak transcription	Brain Angular Gyrus	brain
11	chr11:63765200-63767800	Weak transcription	Brain Substantia Nigra	brain
12	chr11:63766000-63767800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:63766000-63767800	Bivalent Enhancer	Fetal Brain Male	brain
14	chr11:63766000-63768600	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr11:63766200-63767800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:63766200-63767800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
17	chr11:63766200-63768200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr11:63766200-63768400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr11:63766200-63768400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:63766200-63768600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr11:63766400-63767800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:63766400-63767800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr11:63766400-63767800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr11:63766400-63768000	Enhancers	Primary T cells from cord blood	blood
25	chr11:63766400-63768000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:63766400-63770200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr11:63766400-63770400	Enhancers	Fetal Heart	heart
28	chr11:63766400-63770600	Enhancers	Placenta	Placenta
29	chr11:63766600-63767800	Strong transcription	A549	lung
30	chr11:63766600-63768000	Enhancers	Left Ventricle	heart
31	chr11:63766600-63768200	Enhancers	HUVEC	blood vessel
32	chr11:63766600-63768600	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr11:63766800-63767800	Flanking Active TSS	Right Ventricle	heart
34	chr11:63766800-63768000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr11:63766800-63768000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr11:63766800-63768200	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr11:63766800-63768400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:63766800-63768400	Enhancers	Gastric	stomach
39	chr11:63766800-63768800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:63766800-63768800	Enhancers	HMEC	breast
41	chr11:63766800-63769000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr11:63766800-63770400	Enhancers	Lung	lung
43	chr11:63767000-63767800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
44	chr11:63767000-63767800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:63767000-63767800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:63767000-63767800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr11:63767000-63768000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:63767000-63768000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:63767000-63768000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:63767000-63768000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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