Variant report

Variant	rs12801000
Chromosome Location	chr11:57080352-57080353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:57075726-57080675	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr11:57079839-57080923	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:57076375-57080927	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr11:57079480-57080976	K562	blood:	n/a	n/a
5	POLR2A	chr11:57077940-57080942	K562	blood:	n/a	n/a
6	POLR2A	chr11:57079493-57080951	A549	lung:	n/a	n/a
7	POLR2A	chr11:57079545-57080726	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:57080010-57080381	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:57080265-57080574	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:57075814-57080948	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:57079499-57080728	GM12892	blood:	n/a	n/a
12	POLR2A	chr11:57079656-57080709	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:57079454-57080878	GM12878	blood:	n/a	n/a
14	HMGN3	chr11:57080101-57080400	K562	blood:	n/a	n/a
15	POLR2A	chr11:57079508-57080924	K562	blood:	n/a	n/a
16	POLR2A	chr11:57079902-57080699	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:57079640-57080970	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr11:57080133-57080368	A549	lung:	n/a	n/a
19	POLR2A	chr11:57079968-57080464	K562	blood:	n/a	n/a
20	POLR2A	chr11:57079697-57080689	GM12892	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57079676..57081503-chr11:57234032..57236268,2	K562	blood:
2	chr11:57067370..57069838-chr11:57079646..57081972,2	K562	blood:

No data

Variant related genes	Relation type
TNKS1BP1	TF binding region
ENSG00000149115	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1124846	1.00[AFR][1000 genomes]
rs12417609	1.00[AFR][1000 genomes]
rs12417875	1.00[AFR][1000 genomes]
rs12574780	0.93[AMR][1000 genomes]
rs12576471	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12785770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12786396	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12787728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12788046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12789789	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12792413	1.00[AFR][1000 genomes]
rs12797375	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12798121	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12799582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12800182	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12800196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12800402	1.00[AFR][1000 genomes]
rs12802096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12803405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12804022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12806656	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12806978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12807593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808495	1.00[AFR][1000 genomes]
rs12808784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808788	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12808989	1.00[EUR][1000 genomes]
rs17145552	1.00[AFR][1000 genomes]
rs17145556	1.00[AFR][1000 genomes]
rs17151664	1.00[AFR][1000 genomes]
rs17151671	1.00[AFR][1000 genomes]
rs17151841	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17564188	1.00[AFR][1000 genomes]
rs17651297	1.00[AFR][1000 genomes]
rs17651573	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1806823	1.00[AFR][1000 genomes]
rs1939488	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1941034	1.00[AFR][1000 genomes]
rs1941054	1.00[AFR][1000 genomes]
rs1943485	1.00[AFR][1000 genomes]
rs2077188	1.00[AFR][1000 genomes]
rs2156457	1.00[AFR][1000 genomes]
rs2156458	1.00[AFR][1000 genomes]
rs2156460	1.00[AFR][1000 genomes]
rs2212608	1.00[AFR][1000 genomes]
rs2230648	0.85[AMR][1000 genomes]
rs2511025	0.93[AMR][1000 genomes]
rs2846046	0.93[AMR][1000 genomes]
rs2851723	0.93[AMR][1000 genomes]
rs34014874	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34069781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34076116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34085089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34177110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34458685	1.00[AFR][1000 genomes]
rs34498883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34505638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34544917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34572680	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34704777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34742309	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs34754262	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34761603	1.00[AFR][1000 genomes]
rs34769912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34850337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34905018	1.00[AFR][1000 genomes]
rs34985061	1.00[AFR][1000 genomes]
rs35272228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35284031	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35366909	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35388927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35407832	0.85[AMR][1000 genomes]
rs35536636	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs35566323	1.00[AFR][1000 genomes]
rs35707583	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35721601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35818468	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35845551	1.00[AFR][1000 genomes]
rs35943801	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35950335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35980006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35991636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36090449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs499885	0.86[AMR][1000 genomes]
rs558266	0.86[AMR][1000 genomes]
rs578831	0.86[AMR][1000 genomes]
rs655402	0.86[AMR][1000 genomes]
rs656366	0.86[AMR][1000 genomes]
rs6591419	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670919	0.86[AMR][1000 genomes]
rs71484414	1.00[AFR][1000 genomes]
rs71484419	1.00[AFR][1000 genomes]
rs71484422	1.00[AFR][1000 genomes]
rs71484424	1.00[AFR][1000 genomes]
rs71484425	1.00[AFR][1000 genomes]
rs71484428	1.00[AFR][1000 genomes]
rs71484429	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs71484430	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs71484431	1.00[AFR][1000 genomes]
rs71484432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71484433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71484434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71484435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71484436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71484437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71484440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484443	0.81[EUR][1000 genomes]
rs71484444	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs71484445	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs71484446	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs717117	1.00[AFR][1000 genomes]
rs746885	1.00[AFR][1000 genomes]
rs948843	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr11:57068400-57081600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:57074400-57081800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:57075000-57080600	Genic enhancers	Spleen	Spleen
4	chr11:57076200-57080600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:57077600-57082200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:57078000-57080600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
7	chr11:57079000-57080600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:57079000-57080800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:57079000-57081400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:57079000-57081400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:57079200-57080600	Enhancers	Right Atrium	heart
12	chr11:57079200-57081000	Genic enhancers	Fetal Stomach	stomach
13	chr11:57079200-57091400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:57079400-57080400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:57079400-57080400	Genic enhancers	NHLF	lung
16	chr11:57079400-57080600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:57079400-57080800	Enhancers	Psoas Muscle	Psoas
18	chr11:57079400-57081000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:57079400-57081000	Genic enhancers	Placenta	Placenta
20	chr11:57079400-57081000	Genic enhancers	HMEC	breast
21	chr11:57079400-57082400	Genic enhancers	Stomach Mucosa	stomach
22	chr11:57079400-57089600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:57079400-57091400	Weak transcription	Primary B cells from cord blood	blood
24	chr11:57079600-57080400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:57079600-57080400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:57079600-57080400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:57079600-57080400	Enhancers	Liver	Liver
28	chr11:57079600-57080400	Genic enhancers	Brain Hippocampus Middle	brain
29	chr11:57079600-57080400	Genic enhancers	Brain Inferior Temporal Lobe	brain
30	chr11:57079600-57080400	Genic enhancers	Colon Smooth Muscle	Colon
31	chr11:57079600-57080400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
32	chr11:57079600-57080400	Genic enhancers	NHDF-Ad	bronchial
33	chr11:57079600-57080600	Genic enhancers	Muscle Satellite Cultured Cells	--
34	chr11:57079600-57080600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:57079600-57080600	Genic enhancers	Brain Angular Gyrus	brain
36	chr11:57079600-57080600	Genic enhancers	Brain Anterior Caudate	brain
37	chr11:57079600-57080600	Genic enhancers	Fetal Lung	lung
38	chr11:57079600-57080600	Genic enhancers	Placenta Amnion	Placenta Amnion
39	chr11:57079600-57080800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:57079600-57080800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:57079600-57080800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:57079600-57080800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:57079600-57081000	Weak transcription	Primary T cells from cord blood	blood
44	chr11:57079600-57081000	Enhancers	HepG2	liver
45	chr11:57079600-57081400	Genic enhancers	Esophagus	oesophagus
46	chr11:57079600-57081400	Genic enhancers	Fetal Muscle Leg	muscle
47	chr11:57079600-57081600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:57079600-57082400	Genic enhancers	Fetal Intestine Large	intestine
49	chr11:57079600-57082800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:57079600-57082800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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