Variant report

Variant	rs7406338
Chromosome Location	chr17:46045484-46045485
allele	C/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	POLR2A	chr17:46044803-46045659	U87	brain:	n/a	n/a
2	ZNF143	chr17:46045288-46045529	Hela-S3	cervix:	n/a	n/a
3	CREB1	chr17:46045060-46045585	A549	lung:	n/a	n/a
4	FOS	chr17:46045163-46045734	MCF10A-Er-Src	breast:	n/a	chr17:46045561-46045571 chr17:46045550-46045561 chr17:46045561-46045571 chr17:46045548-46045559 chr17:46045561-46045571 chr17:46045296-46045305 chr17:46045561-46045571 chr17:46045550-46045561
5	NR3C1	chr17:46045205-46045589	A549	lung:	n/a	chr17:46045562-46045571 chr17:46045296-46045305 chr17:46045295-46045304 chr17:46045551-46045560
6	SP1	chr17:46045088-46045808	A549	lung:	n/a	chr17:46045316-46045326 chr17:46045316-46045326
7	MAX	chr17:46045150-46045493	A549	lung:	n/a	n/a
8	NR3C1	chr17:46044917-46045635	A549	lung:	n/a	chr17:46045562-46045571 chr17:46044926-46044939 chr17:46045296-46045305 chr17:46045295-46045304 chr17:46045551-46045560
9	STAT3	chr17:46045303-46045720	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr17:46044890-46045748	MCF10A-Er-Src	breast:	n/a	chr17:46045561-46045571 chr17:46045550-46045561 chr17:46045561-46045571 chr17:46045548-46045559 chr17:46045561-46045571 chr17:46045296-46045305 chr17:46045561-46045571 chr17:46045550-46045561
11	POLR2A	chr17:46044950-46045692	U87	brain:	n/a	n/a
12	POLR2A	chr17:46045132-46045601	HCT-116	colon:	n/a	n/a
13	NR3C1	chr17:46045152-46045611	A549	lung:	n/a	chr17:46045562-46045571 chr17:46045296-46045305 chr17:46045295-46045304 chr17:46045551-46045560
14	POLR2A	chr17:46045303-46045697	SK-N-SH	brain:	n/a	n/a
15	RCOR1	chr17:46045209-46045566	Hela-S3	cervix:	n/a	n/a
16	RCOR1	chr17:46044490-46045839	IMR90	lung:	n/a	n/a
17	BCL3	chr17:46045131-46045697	A549	lung:	n/a	chr17:46045309-46045317
18	JUND	chr17:46045182-46045805	SK-N-SH	brain:	n/a	chr17:46045561-46045571 chr17:46045561-46045571 chr17:46045548-46045559 chr17:46045561-46045571 chr17:46045296-46045305 chr17:46045561-46045571 chr17:46045550-46045561
19	NR3C1	chr17:46045198-46045614	A549	lung:	n/a	chr17:46045562-46045571 chr17:46045296-46045305 chr17:46045295-46045304 chr17:46045551-46045560
20	FOSL2	chr17:46045283-46045809	SK-N-SH	brain:	n/a	chr17:46045561-46045571 chr17:46045561-46045571 chr17:46045548-46045559 chr17:46045561-46045571 chr17:46045296-46045305 chr17:46045561-46045571 chr17:46045550-46045561
21	FOSL2	chr17:46045112-46045759	A549	lung:	n/a	chr17:46045561-46045571 chr17:46045561-46045571 chr17:46045548-46045559 chr17:46045561-46045571 chr17:46045296-46045305 chr17:46045561-46045571 chr17:46045550-46045561
22	POLR2A	chr17:46045393-46045593	HepG2	liver:	n/a	n/a
23	JUND	chr17:46045418-46045572	HepG2	liver:	n/a	chr17:46045561-46045571 chr17:46045561-46045571 chr17:46045548-46045559 chr17:46045561-46045571 chr17:46045561-46045571 chr17:46045550-46045561
24	TFAP2C	chr17:46045230-46045647	Hela-S3	cervix:	n/a	n/a
25	EP300	chr17:46045154-46045756	A549	lung:	n/a	n/a
26	FOSL2	chr17:46045049-46045916	A549	lung:	n/a	chr17:46045561-46045571 chr17:46045561-46045571 chr17:46045548-46045559 chr17:46045561-46045571 chr17:46045296-46045305 chr17:46045561-46045571 chr17:46045550-46045561
27	JUND	chr17:46045073-46045729	A549	lung:	n/a	chr17:46045561-46045571 chr17:46045561-46045571 chr17:46045548-46045559 chr17:46045561-46045571 chr17:46045296-46045305 chr17:46045561-46045571 chr17:46045550-46045561
28	MAX	chr17:46044508-46045845	A549	lung:	n/a	n/a
29	FOS	chr17:46045060-46045721	MCF10A-Er-Src	breast:	n/a	chr17:46045561-46045571 chr17:46045550-46045561 chr17:46045561-46045571 chr17:46045548-46045559 chr17:46045561-46045571 chr17:46045296-46045305 chr17:46045561-46045571 chr17:46045550-46045561
30	SP1	chr17:46044633-46045817	A549	lung:	n/a	chr17:46045316-46045326 chr17:46045316-46045326
31	FOXA1	chr17:46045211-46045622	A549	lung:	n/a	n/a
32	MYC	chr17:46045218-46045721	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr17:46045209-46045746	MCF10A-Er-Src	breast:	n/a	chr17:46045561-46045571 chr17:46045550-46045561 chr17:46045561-46045571 chr17:46045548-46045559 chr17:46045561-46045571 chr17:46045296-46045305 chr17:46045561-46045571 chr17:46045550-46045561
34	NR3C1	chr17:46044996-46045618	A549	lung:	n/a	chr17:46045562-46045571 chr17:46045296-46045305 chr17:46045295-46045304 chr17:46045551-46045560
35	FOSL2	chr17:46045034-46045891	SK-N-SH	brain:	n/a	chr17:46045561-46045571 chr17:46045561-46045571 chr17:46045548-46045559 chr17:46045561-46045571 chr17:46045296-46045305 chr17:46045561-46045571 chr17:46045550-46045561
36	SIX5	chr17:46044805-46045695	A549	lung:	n/a	n/a
37	STAT3	chr17:46045398-46045620	MCF10A-Er-Src	breast:	n/a	n/a
38	MAX	chr17:46044805-46045813	A549	lung:	n/a	n/a
39	STAT3	chr17:46045429-46045622	MCF10A-Er-Src	breast:	n/a	n/a
40	FOSL1	chr17:46045036-46045880	HCT-116	colon:	n/a	chr17:46045561-46045571 chr17:46045561-46045571 chr17:46045548-46045559 chr17:46045561-46045571 chr17:46045296-46045305 chr17:46045561-46045571 chr17:46045550-46045561
41	STAT3	chr17:46045289-46045634	MCF10A-Er-Src	breast:	n/a	n/a
42	EP300	chr17:46045145-46045820	A549	lung:	n/a	n/a
43	MYC	chr17:46045116-46045692	MCF10A-Er-Src	breast:	n/a	n/a
44	FOSL1	chr17:46044883-46045964	HCT-116	colon:	n/a	chr17:46045561-46045571 chr17:46045561-46045571 chr17:46045548-46045559 chr17:46045561-46045571 chr17:46045296-46045305 chr17:46045561-46045571 chr17:46045550-46045561
45	POLR2A	chr17:46045083-46045610	MCF10A-Er-Src	breast:	n/a	n/a
46	TCF12	chr17:46045121-46045886	SK-N-SH	brain:	n/a	n/a
47	NR3C1	chr17:46045104-46045669	A549	lung:	n/a	chr17:46045562-46045571 chr17:46045296-46045305 chr17:46045295-46045304 chr17:46045551-46045560
48	SIN3AK20	chr17:46045255-46045673	A549	lung:	n/a	n/a
49	FOS	chr17:46045215-46045717	HUVEC	blood vessel:	n/a	chr17:46045561-46045571 chr17:46045550-46045561 chr17:46045561-46045571 chr17:46045548-46045559 chr17:46045561-46045571 chr17:46045296-46045305 chr17:46045561-46045571 chr17:46045550-46045561
50	USF1	chr17:46045028-46045676	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45917724..45920476-chr17:46044625..46046608,2	MCF-7	breast:
2	chr17:45917404..45919085-chr17:46045221..46048078,2	K562	blood:
3	chr17:46031321..46037809-chr17:46043555..46050276,13	K562	blood:
4	chr17:46023026..46029175-chr17:46044937..46051234,10	K562	blood:
5	chr17:46018061..46020719-chr17:46045036..46046879,2	K562	blood:
6	chr17:46043414..46046355-chr17:46124548..46126704,2	MCF-7	breast:

Variant related genes	Relation type
CDK5RAP3	TF binding region
ENSG00000108439	Chromatin interaction
ENSG00000263412	Chromatin interaction
ENSG00000141295	Chromatin interaction
ENSG00000264019	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000234494	Chromatin interaction
ENSG00000167183	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1476578	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1476579	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2003477	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2003478	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2255697	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2255815	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2525084	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2525085	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2525087	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2525088	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2525090	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2525091	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2525092	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2525093	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2525094	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2525096	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2525098	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2597161	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2597165	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2597168	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2597171	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2597172	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2597173	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2597174	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2597179	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2597180	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2597181	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2875746	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2905845	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2905846	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2905848	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2905849	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2905850	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2905851	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2905852	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2905853	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34190379	0.88[ASN][1000 genomes]
rs62064873	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6503949	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs729785	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs729786	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs737130	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs739853	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7503584	0.88[ASN][1000 genomes]
rs8076314	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs885634	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46019800-46047600	Weak transcription	Aorta	Aorta
2	chr17:46027200-46047200	Weak transcription	Spleen	Spleen
3	chr17:46027600-46047400	Weak transcription	Right Ventricle	heart
4	chr17:46027600-46047600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr17:46028000-46047400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr17:46028000-46047600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:46030200-46045800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr17:46035000-46047400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr17:46036000-46047200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:46036600-46047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:46036800-46047400	Weak transcription	Thymus	Thymus
12	chr17:46037800-46047400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:46037800-46047400	Enhancers	Fetal Intestine Small	intestine
14	chr17:46037800-46047800	Enhancers	Fetal Intestine Large	intestine
15	chr17:46038000-46046400	Weak transcription	K562	blood
16	chr17:46039600-46047600	Weak transcription	Primary T cells from cord blood	blood
17	chr17:46042800-46045800	Enhancers	Ovary	ovary
18	chr17:46042800-46047800	Weak transcription	Small Intestine	intestine
19	chr17:46043000-46045800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr17:46043000-46045800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:46043000-46046400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:46043000-46047800	Enhancers	Pancreas	Pancrea
23	chr17:46043000-46047800	Enhancers	Stomach Mucosa	stomach
24	chr17:46043200-46046400	Weak transcription	Gastric	stomach
25	chr17:46043600-46045600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr17:46043600-46046000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr17:46043800-46045800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:46043800-46045800	Enhancers	HMEC	breast
29	chr17:46043800-46045800	Enhancers	NHDF-Ad	bronchial
30	chr17:46044000-46045600	Enhancers	HepG2	liver
31	chr17:46044200-46047600	Weak transcription	Liver	Liver
32	chr17:46044400-46045600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:46044800-46045600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr17:46044800-46045600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:46044800-46045600	Enhancers	Esophagus	oesophagus
36	chr17:46044800-46045600	Flanking Active TSS	A549	lung
37	chr17:46044800-46045800	Enhancers	NHLF	lung
38	chr17:46044800-46046000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr17:46044800-46047000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr17:46044800-46047200	Enhancers	Duodenum Mucosa	Duodenum
41	chr17:46044800-46048000	Enhancers	Placenta	Placenta
42	chr17:46045000-46045600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:46045000-46045600	Flanking Active TSS	Hela-S3	cervix
44	chr17:46045000-46045600	Flanking Active TSS	NH-A	brain
45	chr17:46045000-46045600	Flanking Active TSS	Osteobl	bone
46	chr17:46045000-46047800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr17:46045200-46045800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:46045200-46045800	Enhancers	HSMMtube	muscle
49	chr17:46045200-46045800	Enhancers	NHEK	skin
50	chr17:46045200-46047200	Enhancers	Rectal Mucosa Donor 29	rectum

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