Variant report

Variant	rs12575735
Chromosome Location	chr11:65745231-65745232
allele	C/T
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	chr11:65744887-65745301	K562	blood:	n/a	n/a
2	POLR2A	chr11:65744398-65745515	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr11:65744285-65745652	U87	brain:	n/a	n/a
4	POLR2A	chr11:65744422-65745369	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:65745013-65745644	K562	blood:	n/a	n/a
6	POLR2A	chr11:65744868-65746507	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:65742494-65745636	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:65743049-65745415	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:65744316-65745518	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:65743069-65745339	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:65744365-65745710	GM12892	blood:	n/a	n/a
12	POLR2A	chr11:65744985-65745566	HL-60	blood:	n/a	n/a
13	POLR2A	chr11:65745047-65745370	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65742158..65748813-chr11:65749011..65756801,11	MCF-7	breast:
2	chr11:65745204..65747160-chr11:65768458..65770932,2	MCF-7	breast:

Variant related genes	Relation type
SART1	TF binding region
ENSG00000254867	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000175334	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10896065	1.00[JPT][hapmap]
rs11545221	1.00[ASN][1000 genomes]
rs12099359	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12574568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12575004	1.00[ASN][1000 genomes]
rs12575514	0.99[ASN][1000 genomes]
rs12576095	0.90[ASN][1000 genomes]
rs12576287	0.94[ASN][1000 genomes]
rs12576319	1.00[JPT][hapmap]
rs12577165	0.90[ASN][1000 genomes]
rs12577625	0.99[ASN][1000 genomes]
rs2241304	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2276015	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2276017	0.93[ASN][1000 genomes]
rs2277305	0.93[ASN][1000 genomes]
rs28372938	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3825068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4930169	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs57968007	0.97[ASN][1000 genomes]
rs58905199	0.99[ASN][1000 genomes]
rs61515492	0.93[ASN][1000 genomes]
rs653955	1.00[JPT][hapmap]
rs67232706	0.96[ASN][1000 genomes]
rs67530871	0.96[ASN][1000 genomes]
rs72928828	0.99[ASN][1000 genomes]
rs72928830	0.99[ASN][1000 genomes]
rs72928831	0.91[ASN][1000 genomes]
rs72928860	1.00[ASN][1000 genomes]
rs72928879	1.00[ASN][1000 genomes]
rs72928884	0.94[ASN][1000 genomes]
rs72928898	0.94[ASN][1000 genomes]
rs72928900	0.94[ASN][1000 genomes]
rs72930914	0.93[ASN][1000 genomes]
rs72930933	0.93[ASN][1000 genomes]
rs72930942	0.93[ASN][1000 genomes]
rs72930945	0.93[ASN][1000 genomes]
rs72930951	0.93[ASN][1000 genomes]
rs72930952	0.93[ASN][1000 genomes]
rs72930956	0.93[ASN][1000 genomes]
rs72930964	0.93[ASN][1000 genomes]
rs72930967	0.93[ASN][1000 genomes]
rs72930974	0.93[ASN][1000 genomes]
rs72930985	0.85[ASN][1000 genomes]
rs7927841	0.85[ASN][1000 genomes]
rs7940700	1.00[JPT][hapmap]
rs9326362	1.00[JPT][hapmap]
rs9943575	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
3	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised 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	178 gene(s)	inside rSNPs	diseases
4	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
5	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
6	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
7	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
8	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65729800-65746200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65730600-65767800	Weak transcription	Right Atrium	heart
3	chr11:65731200-65747400	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:65731200-65747800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:65731200-65748600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:65731200-65749600	Strong transcription	Fetal Intestine Small	intestine
7	chr11:65731400-65747600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:65731400-65747600	Strong transcription	Fetal Thymus	thymus
9	chr11:65731400-65748000	Strong transcription	Thymus	Thymus
10	chr11:65731600-65747400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:65731600-65747800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:65731800-65749000	Strong transcription	Fetal Stomach	stomach
13	chr11:65732000-65747200	Strong transcription	Lung	lung
14	chr11:65732400-65748800	Strong transcription	Stomach Smooth Muscle	stomach
15	chr11:65732800-65748200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:65735200-65750600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:65735800-65756600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:65736400-65767400	Weak transcription	Psoas Muscle	Psoas
19	chr11:65736800-65747800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr11:65737000-65748000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:65737200-65747800	Strong transcription	Placenta	Placenta
22	chr11:65737200-65747800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr11:65737600-65748000	Strong transcription	Fetal Muscle Leg	muscle
24	chr11:65737800-65756600	Weak transcription	Stomach Mucosa	stomach
25	chr11:65739000-65747800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:65739200-65749600	Strong transcription	Fetal Brain Female	brain
27	chr11:65739400-65747200	Strong transcription	Brain Hippocampus Middle	brain
28	chr11:65739400-65747400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:65739600-65748000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:65739600-65748800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:65739600-65756400	Weak transcription	Fetal Kidney	kidney
32	chr11:65739800-65747600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:65739800-65756400	Weak transcription	Hela-S3	cervix
34	chr11:65740000-65747200	Strong transcription	Spleen	Spleen
35	chr11:65740600-65748000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:65740800-65745400	Strong transcription	Rectal Smooth Muscle	rectum
37	chr11:65740800-65745600	Strong transcription	Fetal Lung	lung
38	chr11:65740800-65748000	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:65741000-65746800	Strong transcription	Brain Substantia Nigra	brain
40	chr11:65741000-65747800	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr11:65741200-65765000	Weak transcription	NHDF-Ad	bronchial
42	chr11:65741400-65762000	Weak transcription	HSMMtube	muscle
43	chr11:65741600-65762000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:65742000-65745400	Strong transcription	Primary B cells from cord blood	blood
45	chr11:65742200-65759800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:65742400-65747200	Strong transcription	Adipose Nuclei	Adipose
47	chr11:65742600-65747000	Strong transcription	Brain Anterior Caudate	brain
48	chr11:65742600-65747800	Strong transcription	Osteobl	bone
49	chr11:65742800-65747200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:65742800-65747200	Strong transcription	A549	lung

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