Variant report

Variant	rs10018931
Chromosome Location	chr4:20713438-20713439
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	GATA3	chr4:20712585-20713705	SK-N-SH	brain:	n/a	chr4:20712995-20713007
2	EP300	chr4:20712727-20713506	SK-N-SH_RA	brain:	n/a	n/a
3	GATA3	chr4:20712808-20713635	SK-N-SH	brain:	n/a	chr4:20712995-20713007
4	GATA3	chr4:20712419-20713696	SH-SY5Y	brain:	n/a	chr4:20712995-20713007
5	GATA2	chr4:20712443-20713744	SH-SY5Y	brain:	n/a	chr4:20712995-20713007
6	TEAD4	chr4:20713067-20713592	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr4:20712732-20713555	SK-N-SH	brain:	n/a	n/a
8	MXI1	chr4:20712397-20714095	SK-N-SH	brain:	n/a	n/a
9	TCF12	chr4:20712730-20713524	SK-N-SH	brain:	n/a	n/a
10	EP300	chr4:20712379-20714145	SK-N-SH	brain:	n/a	chr4:20712381-20712391

Variant related genes	Relation type
PACRGL	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10011908	0.87[AMR][1000 genomes]
rs10017693	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10022322	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10024002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10025286	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10034054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10084802	0.90[AFR][1000 genomes]
rs10805219	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10938801	0.84[AFR][1000 genomes]
rs11941041	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11944886	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12152652	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12331966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12644782	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12650007	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16869886	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869889	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1985322	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2052775	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2114472	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114473	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2288308	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2322688	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28524474	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28637181	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28714128	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28788006	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3764964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764965	1.00[ASN][1000 genomes]
rs3764966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764967	0.87[ASN][1000 genomes]
rs3796639	0.87[ASN][1000 genomes]
rs3815872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4414951	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4431223	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4510461	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4640668	0.90[AFR][1000 genomes]
rs57740160	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59335491	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62410126	0.87[ASN][1000 genomes]
rs62410129	0.83[ASN][1000 genomes]
rs62410159	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62411662	0.80[ASN][1000 genomes]
rs6447974	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6447975	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6447976	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6447978	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6447982	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6811030	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6811505	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6817475	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6831295	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6831516	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73240292	0.87[ASN][1000 genomes]
rs7438098	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7655154	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7660006	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7666288	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7673805	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7674453	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7681691	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685481	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7696618	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs990206	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9995438	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013077	chr4:20599841-20732558	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv829876	chr4:20638736-20835621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20702400-20722600	Weak transcription	Spleen	Spleen
2	chr4:20702600-20717200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:20703000-20717200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:20703000-20717400	Weak transcription	Fetal Heart	heart
5	chr4:20703000-20721800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:20703000-20722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:20703000-20741400	Weak transcription	Stomach Mucosa	stomach
8	chr4:20703200-20714400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:20703200-20715000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:20703200-20722800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:20703200-20741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr4:20703400-20722800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:20703400-20722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:20703400-20723600	Weak transcription	Pancreas	Pancrea
15	chr4:20703400-20724000	Weak transcription	A549	lung
16	chr4:20703600-20715000	Weak transcription	Ovary	ovary
17	chr4:20703600-20716200	Weak transcription	Hela-S3	cervix
18	chr4:20703600-20717200	Weak transcription	Brain Germinal Matrix	brain
19	chr4:20703800-20714800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:20705000-20718200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:20705400-20718200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:20705600-20715400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:20706000-20715200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:20706000-20715400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:20706000-20717400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:20706200-20714000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:20706200-20715200	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:20706200-20715400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr4:20706200-20715600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:20706200-20715600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:20706600-20722600	Weak transcription	Gastric	stomach
32	chr4:20706800-20738600	Weak transcription	Psoas Muscle	Psoas
33	chr4:20707200-20714200	Weak transcription	Fetal Brain Male	brain
34	chr4:20707200-20714400	Weak transcription	K562	blood
35	chr4:20707200-20714600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr4:20707200-20714600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:20707200-20714800	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:20707200-20716800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:20707200-20717400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:20707200-20717400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:20707200-20722800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:20707200-20722800	Weak transcription	Thymus	Thymus
43	chr4:20707200-20723200	Weak transcription	Esophagus	oesophagus
44	chr4:20707200-20723400	Weak transcription	Colonic Mucosa	Colon
45	chr4:20707200-20724000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:20707200-20739400	Weak transcription	HepG2	liver
47	chr4:20707400-20714400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr4:20707400-20714600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr4:20707400-20717200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr4:20707400-20722600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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