Variant report

Variant	rs11941721
Chromosome Location	chr4:186634241-186634242
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	GATA2	chr4:186634216-186634900	HUVEC	blood vessel:	n/a	chr4:186634563-186634577 chr4:186634794-186634801
2	MAX	chr4:186633269-186634423	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:186633940-186634308	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:186633208-186634299	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000207497	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10011292	0.87[EUR][1000 genomes]
rs10015763	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10016122	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10017672	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10017940	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10019263	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11132336	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11132337	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11132338	0.92[EUR][1000 genomes]
rs11132339	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11725010	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733264	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932587	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11937510	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12640689	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12643220	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12649216	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13119888	0.88[ASN][1000 genomes]
rs1540711	0.93[EUR][1000 genomes]
rs1542847	0.81[EUR][1000 genomes]
rs1566350	0.93[EUR][1000 genomes]
rs1566351	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1566352	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1566353	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2030143	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2030144	0.93[EUR][1000 genomes]
rs2047499	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35786644	0.85[ASN][1000 genomes]
rs4861676	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4861677	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4861678	0.81[ASN][1000 genomes]
rs4861679	0.82[ASN][1000 genomes]
rs4862565	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4862566	0.87[EUR][1000 genomes]
rs6812761	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6820044	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6825114	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6825669	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6826210	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6836237	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6837079	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7340885	0.82[EUR][1000 genomes]
rs7673413	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7688359	0.81[EUR][1000 genomes]
rs7689859	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7690098	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7694063	0.90[EUR][1000 genomes]
rs7695346	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7696530	0.83[EUR][1000 genomes]
rs904451	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9991426	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9991548	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh 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	31 gene(s)	inside rSNPs	diseases
4	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186622000-186651800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:186622600-186637200	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:186627200-186639800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:186628200-186637600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr4:186629000-186635400	Enhancers	HUVEC	blood vessel
6	chr4:186629200-186634400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:186630000-186651600	Weak transcription	HSMM	muscle
8	chr4:186630600-186634600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:186630600-186635200	Enhancers	HMEC	breast
10	chr4:186630600-186635200	Enhancers	NH-A	brain
11	chr4:186631200-186638200	Weak transcription	HSMMtube	muscle
12	chr4:186631800-186635600	Enhancers	Right Ventricle	heart
13	chr4:186632000-186637200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:186632200-186639800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:186632600-186635000	Enhancers	Stomach Mucosa	stomach
16	chr4:186632600-186635400	Enhancers	Hela-S3	cervix
17	chr4:186632600-186637200	Weak transcription	Fetal Brain Male	brain
18	chr4:186632800-186636200	Enhancers	Fetal Intestine Large	intestine
19	chr4:186632800-186636600	Enhancers	Fetal Intestine Small	intestine
20	chr4:186632800-186637000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:186632800-186637200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:186632800-186637400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:186633000-186636000	Enhancers	Pancreas	Pancrea
24	chr4:186633000-186642000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:186633200-186634400	Enhancers	Lung	lung
26	chr4:186633400-186634400	Enhancers	Right Atrium	heart
27	chr4:186633400-186634800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:186633400-186635400	Flanking Active TSS	HepG2	liver
29	chr4:186633400-186640000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:186633600-186634400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:186633600-186634400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:186633600-186634800	Strong transcription	Aorta	Aorta
33	chr4:186633800-186634400	Flanking Active TSS	Liver	Liver
34	chr4:186633800-186634400	Enhancers	Ovary	ovary
35	chr4:186633800-186635200	Genic enhancers	Fetal Heart	heart
36	chr4:186634000-186634600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:186634000-186634600	Enhancers	Small Intestine	intestine
38	chr4:186634000-186634800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr4:186634000-186634800	Enhancers	Left Ventricle	heart
40	chr4:186634000-186634800	Enhancers	Osteobl	bone
41	chr4:186634000-186637400	Weak transcription	Spleen	Spleen
42	chr4:186634000-186641600	Weak transcription	Fetal Stomach	stomach
43	chr4:186634000-186642400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:186634200-186634400	Flanking Active TSS	Gastric	stomach
45	chr4:186634200-186634600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:186634200-186634800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:186634200-186634800	Enhancers	NHEK	skin
48	chr4:186634200-186635000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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