Variant report

Variant	rs73603357
Chromosome Location	chr10:4720349-4720350
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	FOXA1	chr10:4719617-4720793	A549	lung:	n/a	chr10:4720579-4720591 chr10:4720575-4720587
2	STAT3	chr10:4719718-4720741	Hela-S3	cervix:	n/a	chr10:4720479-4720488 chr10:4720548-4720556
3	NR3C1	chr10:4720129-4720543	A549	lung:	n/a	n/a
4	POLR2A	chr10:4719731-4720983	PANC-1	pancreas:	n/a	n/a
5	TCF7L2	chr10:4720163-4721051	PANC-1	pancreas:	n/a	n/a
6	FOXA2	chr10:4719734-4720823	A549	lung:	n/a	chr10:4720579-4720591 chr10:4720575-4720587
7	SP1	chr10:4719589-4721137	A549	lung:	n/a	n/a
8	ARID3A	chr10:4720204-4720742	HepG2	liver:	n/a	n/a
9	RFX5	chr10:4719688-4720353	Hela-S3	cervix:	n/a	n/a
10	FOS	chr10:4719651-4720674	MCF10A-Er-Src	breast:	n/a	chr10:4720478-4720489
11	FOS	chr10:4720041-4720971	HUVEC	blood vessel:	n/a	chr10:4720478-4720489
12	TCF12	chr10:4720077-4720833	SK-N-SH	brain:	n/a	n/a
13	ZBTB33	chr10:4720176-4720651	A549	lung:	n/a	n/a
14	EP300	chr10:4719657-4720868	A549	lung:	n/a	chr10:4719980-4719994
15	CEBPB	chr10:4719820-4720655	IMR90	lung:	n/a	n/a
16	CHD2	chr10:4719787-4720715	Hela-S3	cervix:	n/a	n/a
17	MYC	chr10:4719625-4720662	MCF10A-Er-Src	breast:	n/a	chr10:4719983-4719992
18	EP300	chr10:4719654-4720764	Hela-S3	cervix:	n/a	chr10:4719980-4719994
19	POLR2A	chr10:4719448-4721009	HUVEC	blood vessel:	n/a	n/a
20	NR3C1	chr10:4719697-4720763	A549	lung:	n/a	n/a
21	ATF3	chr10:4719678-4720737	A549	lung:	n/a	n/a
22	FOS	chr10:4719796-4720663	MCF10A-Er-Src	breast:	n/a	chr10:4720478-4720489
23	FOSL2	chr10:4719537-4721019	A549	lung:	n/a	n/a
24	JUN	chr10:4719887-4720708	HUVEC	blood vessel:	n/a	n/a
25	CEBPB	chr10:4719743-4720681	A549	lung:	n/a	n/a
26	FOS	chr10:4719679-4720680	MCF10A-Er-Src	breast:	n/a	chr10:4720478-4720489
27	E2F4	chr10:4719604-4720643	MCF10A-Er-Src	breast:	n/a	n/a
28	BCL3	chr10:4719516-4720757	A549	lung:	n/a	chr10:4720479-4720488 chr10:4720406-4720415
29	USF1	chr10:4720249-4720648	A549	lung:	n/a	n/a
30	JUND	chr10:4720017-4720574	HepG2	liver:	n/a	chr10:4720478-4720489
31	FOSL2	chr10:4720218-4720575	HepG2	liver:	n/a	n/a
32	JUND	chr10:4720331-4720448	HepG2	liver:	n/a	n/a
33	MAFK	chr10:4720199-4720613	IMR90	lung:	n/a	chr10:4720380-4720395
34	FOXA2	chr10:4720238-4720533	HepG2	liver:	n/a	n/a
35	RCOR1	chr10:4719799-4720669	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr10:4720281-4720576	HUVEC	blood vessel:	n/a	n/a
37	MAX	chr10:4719591-4721176	A549	lung:	n/a	chr10:4719983-4719992
38	POLR2A	chr10:4720257-4720514	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr10:4719608-4720860	HUVEC	blood vessel:	n/a	n/a
40	TEAD4	chr10:4720187-4720767	A549	lung:	n/a	n/a
41	TCF7L2	chr10:4720345-4720845	Hela-S3	cervix:	n/a	n/a
42	FOSL2	chr10:4720233-4720560	HepG2	liver:	n/a	n/a
43	STAT3	chr10:4719740-4720690	MCF10A-Er-Src	breast:	n/a	chr10:4720479-4720488 chr10:4720548-4720556
44	GATA3	chr10:4719632-4720830	A549	lung:	n/a	n/a
45	MAX	chr10:4719690-4721117	A549	lung:	n/a	chr10:4719983-4719992
46	FOXA2	chr10:4719654-4720916	A549	lung:	n/a	chr10:4720579-4720591 chr10:4720575-4720587
47	POLR2A	chr10:4719554-4721105	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr10:4718751-4721560	MCF10A-Er-Src	breast:	n/a	n/a
49	FOXA1	chr10:4720124-4720748	HepG2	liver:	n/a	chr10:4720579-4720591 chr10:4720575-4720587
50	POLR2A	chr10:4719514-4720582	HUVEC	blood vessel:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1C2-4	chr10:4720241-4720414	NONHSAT011101
2	lnc-AKR1E2-7	chr10:4718640-4721519	NONHSAT011111

Variant related genes	Relation type
LINC00704	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs6601856	1.00[AMR][1000 genomes]
rs7080358	1.00[AMR][1000 genomes]
rs73585603	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585605	1.00[AMR][1000 genomes]
rs73585607	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585608	1.00[AMR][1000 genomes]
rs73603358	1.00[AMR][1000 genomes]
rs73603359	1.00[AMR][1000 genomes]
rs73603363	1.00[AMR][1000 genomes]
rs73603365	1.00[AMR][1000 genomes]
rs73603367	1.00[AMR][1000 genomes]
rs73603369	1.00[AMR][1000 genomes]
rs73603370	1.00[AMR][1000 genomes]
rs73603372	1.00[AMR][1000 genomes]
rs73603373	1.00[AMR][1000 genomes]
rs7904029	1.00[AMR][1000 genomes]
rs7915099	1.00[AMR][1000 genomes]
rs7915596	1.00[AMR][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	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv1798456	chr10:4689138-4731081	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1817443	chr10:4689138-4731081	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1831014	chr10:4689138-4731081	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1838419	chr10:4689138-4731081	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1805926	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv1809203	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1840346	chr10:4689842-4720626	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1842933	chr10:4689842-4720626	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1848476	chr10:4689842-4720626	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4714000-4720800	Weak transcription	Right Atrium	heart
2	chr10:4714200-4720800	Weak transcription	Left Ventricle	heart
3	chr10:4715600-4721000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr10:4716400-4726600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr10:4717800-4720600	Weak transcription	Esophagus	oesophagus
6	chr10:4717800-4727000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:4718400-4720800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr10:4719000-4720600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:4719000-4720600	Weak transcription	Gastric	stomach
10	chr10:4719200-4720600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:4719200-4720600	Weak transcription	Stomach Mucosa	stomach
12	chr10:4719200-4720600	Active TSS	HUVEC	blood vessel
13	chr10:4719400-4721200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr10:4719600-4720400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:4719600-4720400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr10:4719600-4720400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:4719600-4720600	Weak transcription	Pancreas	Pancrea
18	chr10:4719600-4720600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr10:4719600-4721000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:4719600-4721000	Enhancers	HepG2	liver
21	chr10:4719600-4721000	Flanking Active TSS	Osteobl	bone
22	chr10:4719600-4721200	Enhancers	NHDF-Ad	bronchial
23	chr10:4719800-4720400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:4719800-4720400	Weak transcription	Fetal Intestine Large	intestine
25	chr10:4719800-4720400	Enhancers	HSMMtube	muscle
26	chr10:4719800-4720600	Active TSS	Duodenum Mucosa	Duodenum
27	chr10:4719800-4720600	Flanking Active TSS	NH-A	brain
28	chr10:4719800-4720800	Enhancers	Liver	Liver
29	chr10:4719800-4721000	Flanking Active TSS	Hela-S3	cervix
30	chr10:4719800-4721200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:4719800-4721200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:4719800-4721800	Enhancers	Ovary	ovary
33	chr10:4720000-4720400	Active TSS	A549	lung
34	chr10:4720000-4720600	Enhancers	Adipose Nuclei	Adipose
35	chr10:4720000-4721000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr10:4720000-4721000	Flanking Active TSS	NHEK	skin
37	chr10:4720000-4721200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr10:4720000-4721800	Enhancers	Psoas Muscle	Psoas
39	chr10:4720200-4720400	Flanking Active TSS	HMEC	breast
40	chr10:4720200-4720400	Flanking Active TSS	HSMM	muscle
41	chr10:4720200-4720600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:4720200-4720600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr10:4720200-4720800	Enhancers	Colon Smooth Muscle	Colon
44	chr10:4720200-4721000	Enhancers	Rectal Smooth Muscle	rectum
45	chr10:4720200-4721000	Enhancers	Skeletal Muscle Female	skeletal muscle

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