Variant report

Variant	rs2291851
Chromosome Location	chr5:58331812-58331813
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	chr5:58331606-58331975	A549	lung:	n/a	n/a
2	USF2	chr5:58331651-58331901	Hela-S3	cervix:	n/a	n/a
3	EP300	chr5:58330146-58332769	SK-N-SH	brain:	n/a	chr5:58332292-58332306
4	GATA3	chr5:58331309-58332669	SK-N-SH	brain:	n/a	chr5:58332250-58332259
5	FOSL2	chr5:58331573-58332818	A549	lung:	n/a	chr5:58332247-58332259 chr5:58332249-58332257
6	EP300	chr5:58331646-58332768	Hela-S3	cervix:	n/a	chr5:58332292-58332306
7	MAX	chr5:58331716-58332629	A549	lung:	n/a	chr5:58332295-58332304 chr5:58332190-58332197 chr5:58332249-58332258
8	SIX5	chr5:58330273-58336780	A549	lung:	n/a	chr5:58334021-58334030
9	REST	chr5:58331372-58337614	A549	lung:	n/a	chr5:58334044-58334052 chr5:58335557-58335570
10	GATA3	chr5:58331374-58331971	SK-N-SH	brain:	n/a	n/a
11	FOS	chr5:58331643-58332693	MCF10A-Er-Src	breast:	n/a	chr5:58332247-58332259 chr5:58332249-58332257 chr5:58332247-58332258
12	GATA3	chr5:58331459-58331933	SH-SY5Y	brain:	n/a	n/a
13	GATA2	chr5:58331478-58331904	SH-SY5Y	brain:	n/a	n/a
14	SP1	chr5:58331577-58338881	A549	lung:	n/a	chr5:58333512-58333519 chr5:58335988-58335997
15	POLR2A	chr5:58331579-58336345	IMR90	lung:	n/a	n/a
16	MYC	chr5:58331448-58332794	MCF10A-Er-Src	breast:	n/a	chr5:58332295-58332304 chr5:58332190-58332197 chr5:58332249-58332258
17	EP300	chr5:58331519-58331883	SK-N-SH_RA	brain:	n/a	n/a
18	FOS	chr5:58331713-58332640	MCF10A-Er-Src	breast:	n/a	chr5:58332247-58332259 chr5:58332249-58332257 chr5:58332247-58332258
19	POLR2A	chr5:58331628-58332531	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr5:58331492-58333960	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr5:58331518-58331921	SK-N-SH	brain:	n/a	n/a
22	BCL3	chr5:58330017-58334935	A549	lung:	n/a	chr5:58332249-58332258 chr5:58333393-58333401
23	POLR2A	chr5:58331501-58332642	PFSK-1	brain:	n/a	n/a
24	TCF12	chr5:58331315-58332650	SK-N-SH	brain:	n/a	n/a
25	GATA3	chr5:58330035-58338800	A549	lung:	n/a	chr5:58333570-58333591 chr5:58332852-58332859 chr5:58333577-58333587 chr5:58333577-58333584 chr5:58332250-58332259 chr5:58333577-58333584 chr5:58332852-58332859 chr5:58333577-58333584 chr5:58333572-58333588 chr5:58336798-58336814 chr5:58332852-58332859
26	POLR2A	chr5:58331748-58336528	MCF10A-Er-Src	breast:	n/a	n/a
27	MAX	chr5:58331457-58332750	A549	lung:	n/a	chr5:58332295-58332304 chr5:58332190-58332197 chr5:58332249-58332258
28	TCF12	chr5:58331291-58337478	A549	lung:	n/a	chr5:58336418-58336428 chr5:58336399-58336408
29	CHD1	chr5:58331417-58336301	IMR90	lung:	n/a	n/a
30	MXI1	chr5:58331564-58334104	IMR90	lung:	n/a	n/a
31	EP300	chr5:58331498-58332788	A549	lung:	n/a	chr5:58332292-58332306

Variant related genes	Relation type
ENSG00000247345	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10052704	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10053177	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10061320	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10063703	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10065498	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10067196	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10069187	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10940638	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11750426	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11948356	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11957827	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13357540	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13361043	0.94[AMR][1000 genomes]
rs13362239	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13362296	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16888990	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16888998	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1874857	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1874858	0.82[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1874859	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2055296	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2055297	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2055298	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2291852	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4279300	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4469166	0.82[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.83[MKK][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4631140	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4699932	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4700315	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4700316	0.83[CHB][hapmap]
rs4700317	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58779089	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58940834	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61511922	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62358484	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62358490	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62358491	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62358492	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6450498	0.83[CHB][hapmap]
rs6876057	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6888474	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7714489	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7723432	0.83[CHB][hapmap]
rs7727206	0.83[CHB][hapmap]
rs7729722	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7733884	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7735570	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9283720	0.83[CHB][hapmap]
rs9292184	0.83[CHB][hapmap]
rs9292186	0.83[CHB][hapmap]
rs9292187	0.83[CHB][hapmap]
rs9292188	0.83[CHB][hapmap]
rs9292189	0.83[CHB][hapmap]

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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1032308	chr5:58312468-58371239	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58313000-58333400	Weak transcription	Lung	lung
2	chr5:58318000-58333000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:58318600-58333000	Weak transcription	Left Ventricle	heart
4	chr5:58318600-58333200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:58320200-58334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:58321800-58334000	Weak transcription	Gastric	stomach
7	chr5:58324600-58333000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr5:58326000-58332200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:58327000-58334000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:58329200-58332400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:58329200-58333200	Enhancers	Rectal Smooth Muscle	rectum
12	chr5:58330000-58332000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:58330200-58332200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr5:58330200-58332200	Enhancers	Fetal Lung	lung
15	chr5:58330200-58333000	Enhancers	Primary hematopoietic stem cells	blood
16	chr5:58330200-58333600	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr5:58330400-58332200	Enhancers	Colon Smooth Muscle	Colon
18	chr5:58330400-58336400	Active TSS	Right Ventricle	heart
19	chr5:58330400-58336600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:58330600-58332000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:58330600-58332000	Genic enhancers	Hela-S3	cervix
22	chr5:58330600-58332200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr5:58330600-58332400	Enhancers	HSMMtube	muscle
24	chr5:58330600-58333400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:58330600-58333600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:58330600-58334600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:58330600-58335000	Transcr. at gene 5' and 3'	A549	lung
28	chr5:58330600-58336200	Active TSS	Right Atrium	heart
29	chr5:58330800-58333000	Active TSS	Thymus	Thymus
30	chr5:58330800-58335800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr5:58331000-58332200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:58331000-58332200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:58331000-58332800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr5:58331000-58333000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:58331000-58333000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:58331000-58333000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:58331000-58333400	Enhancers	Fetal Heart	heart
38	chr5:58331000-58333400	Weak transcription	Small Intestine	intestine
39	chr5:58331000-58333800	Active TSS	Fetal Thymus	thymus
40	chr5:58331000-58336200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:58331000-58336400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:58331000-58336600	Active TSS	Psoas Muscle	Psoas
43	chr5:58331200-58332400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr5:58331200-58333800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr5:58331200-58334400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:58331400-58332200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:58331600-58332000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr5:58331600-58332000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:58331600-58332000	Enhancers	Fetal Brain Female	brain
50	chr5:58331600-58332000	Flanking Active TSS	Placenta Amnion	Placenta Amnion

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