Variant report

Variant	rs57436966
Chromosome Location	chr11:47759541-47759542
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	chr11:47759438-47759957	K562	blood:	n/a	n/a
2	POLR2A	chr11:47758899-47760004	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:47759018-47759952	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr11:47759483-47759787	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:47759522-47759912	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:47758859-47760133	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:47758961-47759994	K562	blood:	n/a	n/a
8	POLR2A	chr11:47759428-47759635	GM12891	blood:	n/a	n/a
9	POLR2A	chr11:47758857-47759955	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:47759273-47759901	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr11:47759324-47759674	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:47759438-47759882	K562	blood:	n/a	n/a
13	POLR2A	chr11:47759508-47762339	K562	blood:	n/a	n/a
14	POLR2A	chr11:47759202-47759606	MCF-7	breast:	n/a	n/a
15	POLR2A	chr11:47758976-47759914	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:47758841-47760063	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:47759432-47759887	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:47759428-47759811	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:47759279-47759911	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:47759090-47760884	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:47759220-47759998	GM12892	blood:	n/a	n/a
22	POLR2A	chr11:47758920-47759848	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:47759527-47759544	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr11:47758959-47759907	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:47759437-47759616	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:47759240-47759871	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
FNBP4	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11039387	0.92[ASN][1000 genomes]
rs11819979	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11820480	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1474056	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17791016	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1872167	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2138767	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2305982	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2305983	0.92[ASN][1000 genomes]
rs2869531	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2869532	0.92[ASN][1000 genomes]
rs4303192	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4752786	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4752791	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4752871	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4752872	0.92[ASN][1000 genomes]
rs4752877	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4752879	0.91[ASN][1000 genomes]
rs58357937	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59205786	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60515486	0.88[ASN][1000 genomes]
rs6485772	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6485774	0.95[ASN][1000 genomes]
rs6485783	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6485784	0.92[ASN][1000 genomes]
rs6485788	0.94[ASN][1000 genomes]
rs7116299	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7120737	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7121264	0.93[ASN][1000 genomes]
rs7124949	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7924699	0.92[ASN][1000 genomes]
rs7927611	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7931089	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7942031	0.94[ASN][1000 genomes]
rs7945911	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7952204	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 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	chr11:47737000-47786200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:47737200-47779800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:47737600-47779200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:47737800-47767400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:47737800-47776400	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:47737800-47776600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:47737800-47776600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:47737800-47777200	Strong transcription	NH-A	brain
9	chr11:47737800-47782800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr11:47737800-47785800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:47737800-47786000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:47737800-47786200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:47737800-47786200	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr11:47737800-47786400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:47737800-47786400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:47737800-47786400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:47737800-47786400	Strong transcription	Fetal Thymus	thymus
18	chr11:47737800-47786800	Strong transcription	Placenta	Placenta
19	chr11:47738000-47763800	Strong transcription	NHDF-Ad	bronchial
20	chr11:47738000-47776200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:47738000-47776200	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:47738000-47776400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:47738000-47776600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr11:47738000-47786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:47738000-47786400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:47738000-47786400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr11:47738000-47786800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:47738200-47776200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr11:47738200-47776600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:47738200-47779000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:47738200-47786400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:47738400-47776600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:47738400-47786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:47738600-47785800	Strong transcription	Dnd41	blood
35	chr11:47739800-47776800	Strong transcription	Thymus	Thymus
36	chr11:47742800-47776400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:47742800-47776400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr11:47743000-47776400	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:47743800-47776200	Strong transcription	Primary T cells from cord blood	blood
40	chr11:47744000-47759800	Strong transcription	GM12878-XiMat	blood
41	chr11:47746000-47777600	Strong transcription	Fetal Muscle Leg	muscle
42	chr11:47746200-47776200	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:47746200-47776400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr11:47746200-47776800	Strong transcription	Left Ventricle	heart
45	chr11:47746200-47778200	Strong transcription	Osteobl	bone
46	chr11:47746200-47786000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:47746400-47765000	Weak transcription	Stomach Mucosa	stomach
48	chr11:47746400-47786200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:47746800-47776000	Strong transcription	Hela-S3	cervix
50	chr11:47747400-47786200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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