Variant report

Variant	rs72921992
Chromosome Location	chr11:57074269-57074270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:57074029-57074284	HepG2	liver:	n/a	n/a
2	FOXA1	chr11:57073893-57074309	HepG2	liver:	n/a	n/a
3	FOXA2	chr11:57073957-57074317	HepG2	liver:	n/a	n/a
4	SP1	chr11:57073905-57074302	HepG2	liver:	n/a	chr11:57074272-57074281 chr11:57074277-57074291 chr11:57074273-57074282 chr11:57074272-57074281
5	FOXA2	chr11:57073965-57074303	A549	lung:	n/a	n/a
6	HNF4A	chr11:57073995-57074286	HepG2	liver:	n/a	n/a
7	EP300	chr11:57073883-57074358	HepG2	liver:	n/a	n/a
8	FOXA1	chr11:57073856-57074303	HepG2	liver:	n/a	n/a
9	MYBL2	chr11:57073831-57074325	HepG2	liver:	n/a	n/a
10	FOXA1	chr11:57073911-57074346	HepG2	liver:	n/a	n/a
11	HDAC2	chr11:57073985-57074344	HepG2	liver:	n/a	n/a
12	FOXA1	chr11:57073937-57074297	HepG2	liver:	n/a	n/a
13	HNF4A	chr11:57073947-57074311	HepG2	liver:	n/a	n/a
14	ZEB1	chr11:57073880-57074429	HepG2	liver:	n/a	chr11:57074123-57074130
15	HNF4G	chr11:57073968-57074304	HepG2	liver:	n/a	n/a
16	NFIC	chr11:57073956-57074299	HepG2	liver:	n/a	n/a
17	HNF4A	chr11:57073983-57074334	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57074196..57077122-chr11:57088845..57090376,2	K562	blood:
2	chr11:57074141..57076695-chr11:57081529..57084399,2	K562	blood:
3	chr11:57072221..57074668-chr11:57092202..57093754,2	K562	blood:
4	chr11:57065084..57068349-chr11:57071009..57074536,5	K562	blood:
5	chr11:57069900..57073117-chr11:57073296..57075998,3	MCF-7	breast:
6	chr11:57072533..57077787-chr11:57091126..57096114,6	MCF-7	breast:
7	chr11:57073611..57077332-chr11:57101938..57105218,4	K562	blood:

No data

Variant related genes	Relation type
TNKS1BP1	TF binding region
ENSG00000149115	Chromatin interaction
ENSG00000254662	Chromatin interaction
ENSG00000149136	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10792083	0.84[EUR][1000 genomes]
rs10896595	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896597	0.91[ASN][1000 genomes]
rs10896599	0.88[ASN][1000 genomes]
rs11228968	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11228975	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11228976	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11228978	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11228980	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11228982	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11228984	0.97[ASN][1000 genomes]
rs11228985	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11228988	0.85[EUR][1000 genomes]
rs11600878	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11604373	0.87[EUR][1000 genomes]
rs11604560	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11604778	0.87[ASN][1000 genomes]
rs11605053	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11607817	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12419065	0.90[ASN][1000 genomes]
rs12421633	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12421755	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12792781	0.97[ASN][1000 genomes]
rs12797769	0.98[ASN][1000 genomes]
rs17572970	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17651610	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17652078	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1892963	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1892964	0.91[ASN][1000 genomes]
rs1939489	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1939495	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2155230	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2155231	0.86[ASN][1000 genomes]
rs2226613	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511026	0.82[ASN][1000 genomes]
rs2511029	0.86[ASN][1000 genomes]
rs2511030	0.91[ASN][1000 genomes]
rs2846042	0.91[ASN][1000 genomes]
rs2846050	0.91[ASN][1000 genomes]
rs2846051	0.84[ASN][1000 genomes]
rs2851722	0.91[ASN][1000 genomes]
rs35610294	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3935068	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4384399	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4565915	0.97[ASN][1000 genomes]
rs479949	0.91[ASN][1000 genomes]
rs4938855	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4938857	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4938859	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4938861	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4939132	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs499318	0.90[ASN][1000 genomes]
rs5012051	0.87[ASN][1000 genomes]
rs519277	0.91[ASN][1000 genomes]
rs522656	0.86[ASN][1000 genomes]
rs528101	0.91[ASN][1000 genomes]
rs58295319	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs590240	0.86[ASN][1000 genomes]
rs599947	0.86[ASN][1000 genomes]
rs625565	0.91[ASN][1000 genomes]
rs652016	0.88[ASN][1000 genomes]
rs654635	0.91[ASN][1000 genomes]
rs6591413	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6591415	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6591416	0.97[ASN][1000 genomes]
rs6591417	0.97[ASN][1000 genomes]
rs7102963	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7120644	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7128371	0.97[ASN][1000 genomes]
rs7130252	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7935236	0.93[ASN][1000 genomes]
rs7943761	0.82[EUR][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	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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57052400-57078200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57067200-57078400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:57067400-57078400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr11:57067400-57079000	Weak transcription	Primary B cells from cord blood	blood
5	chr11:57067600-57078400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:57067800-57078000	Weak transcription	Fetal Heart	heart
7	chr11:57067800-57078400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:57068400-57078400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:57068400-57081600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:57068800-57078200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr11:57068800-57078200	Weak transcription	Fetal Brain Male	brain
12	chr11:57069200-57076400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:57069600-57076800	Weak transcription	Brain Substantia Nigra	brain
14	chr11:57069600-57078400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:57069800-57076400	Weak transcription	Fetal Thymus	thymus
16	chr11:57069800-57078200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:57069800-57078600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:57069800-57078600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:57070000-57074600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:57070000-57078200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:57070000-57078400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:57070000-57078600	Weak transcription	Primary T cells from cord blood	blood
23	chr11:57070200-57074800	Weak transcription	Brain Angular Gyrus	brain
24	chr11:57070200-57078200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:57070200-57078400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:57070200-57078600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:57070400-57076200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:57070600-57078000	Genic enhancers	HMEC	breast
29	chr11:57070800-57075000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:57070800-57075000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:57070800-57075200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:57070800-57075400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:57070800-57076000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:57070800-57077600	Weak transcription	Thymus	Thymus
35	chr11:57071000-57074600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:57071000-57075400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:57071000-57076200	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:57071000-57077400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:57071000-57078000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:57071200-57074600	Genic enhancers	Adipose Nuclei	Adipose
41	chr11:57071200-57075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:57071200-57075400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:57071200-57075800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:57071200-57076600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:57071200-57076600	Enhancers	HepG2	liver
46	chr11:57071400-57074600	Weak transcription	Colonic Mucosa	Colon
47	chr11:57071400-57077800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:57071400-57078000	Genic enhancers	Fetal Muscle Leg	muscle
49	chr11:57071600-57074600	Weak transcription	Aorta	Aorta
50	chr11:57071600-57076800	Weak transcription	Dnd41	blood

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