Variant report

Variant	rs73603358
Chromosome Location	chr10:4720859-4720860
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	POLR2A	chr10:4719731-4720983	PANC-1	pancreas:	n/a	n/a
2	TCF7L2	chr10:4720163-4721051	PANC-1	pancreas:	n/a	n/a
3	SP1	chr10:4719589-4721137	A549	lung:	n/a	n/a
4	FOS	chr10:4720041-4720971	HUVEC	blood vessel:	n/a	chr10:4720478-4720489
5	EP300	chr10:4719657-4720868	A549	lung:	n/a	chr10:4719980-4719994
6	POLR2A	chr10:4719448-4721009	HUVEC	blood vessel:	n/a	n/a
7	FOSL2	chr10:4719537-4721019	A549	lung:	n/a	n/a
8	MYC	chr10:4720810-4720961	MCF-7	breast:	n/a	n/a
9	MAX	chr10:4719591-4721176	A549	lung:	n/a	chr10:4719983-4719992
10	POLR2A	chr10:4719608-4720860	HUVEC	blood vessel:	n/a	n/a
11	MAX	chr10:4719690-4721117	A549	lung:	n/a	chr10:4719983-4719992
12	FOXA2	chr10:4719654-4720916	A549	lung:	n/a	chr10:4720579-4720591 chr10:4720575-4720587
13	POLR2A	chr10:4719554-4721105	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr10:4718751-4721560	MCF10A-Er-Src	breast:	n/a	n/a
15	CEBPB	chr10:4719584-4720890	A549	lung:	n/a	n/a
16	NR3C1	chr10:4719762-4720896	A549	lung:	n/a	n/a
17	TCF12	chr10:4719390-4721223	A549	lung:	n/a	chr10:4719905-4719914
18	GATA3	chr10:4720187-4720951	T-47D	breast:	n/a	n/a
19	EP300	chr10:4720236-4720880	T-47D	breast:	n/a	n/a
20	GATA3	chr10:4719475-4721089	A549	lung:	n/a	n/a
21	POLR2A	chr10:4719486-4721114	MCF10A-Er-Src	breast:	n/a	n/a
22	SP1	chr10:4719615-4721107	A549	lung:	n/a	n/a
23	EP300	chr10:4719497-4721092	A549	lung:	n/a	chr10:4719980-4719994
24	GATA2	chr10:4720092-4721015	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:4720656..4723151-chr10:4723485..4725231,3	MCF-7	breast:
2	chr10:4720784..4722788-chr10:4723962..4726842,2	MCF-7	breast:
3	chr10:4704243..4706913-chr10:4720436..4722129,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1E2-7	chr10:4718640-4721519	NONHSAT011111

Variant related genes	Relation type
LINC00704	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs6601856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7080358	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7080362	0.81[AFR][1000 genomes]
rs73585603	1.00[AMR][1000 genomes]
rs73585605	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585607	1.00[AMR][1000 genomes]
rs73585608	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73603357	1.00[AMR][1000 genomes]
rs73603359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73603363	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73603365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73603367	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73603369	1.00[AMR][1000 genomes]
rs73603370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73603372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73603373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7904029	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7915099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7915596	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4715600-4721000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr10:4716400-4726600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:4717800-4727000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:4719400-4721200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr10:4719600-4721000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:4719600-4721000	Enhancers	HepG2	liver
7	chr10:4719600-4721000	Flanking Active TSS	Osteobl	bone
8	chr10:4719600-4721200	Enhancers	NHDF-Ad	bronchial
9	chr10:4719800-4721000	Flanking Active TSS	Hela-S3	cervix
10	chr10:4719800-4721200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:4719800-4721200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:4719800-4721800	Enhancers	Ovary	ovary
13	chr10:4720000-4721000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr10:4720000-4721000	Flanking Active TSS	NHEK	skin
15	chr10:4720000-4721200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr10:4720000-4721800	Enhancers	Psoas Muscle	Psoas
17	chr10:4720200-4721000	Enhancers	Rectal Smooth Muscle	rectum
18	chr10:4720200-4721000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr10:4720400-4721000	Enhancers	HSMM	muscle
20	chr10:4720400-4721200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:4720400-4721200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:4720400-4721400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:4720400-4721400	Flanking Active TSS	A549	lung
24	chr10:4720400-4721800	Enhancers	Fetal Intestine Large	intestine
25	chr10:4720400-4722000	Enhancers	Fetal Intestine Small	intestine
26	chr10:4720600-4721000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:4720600-4721000	Enhancers	Aorta	Aorta
28	chr10:4720600-4721000	Enhancers	Colonic Mucosa	Colon
29	chr10:4720600-4721000	Enhancers	Esophagus	oesophagus
30	chr10:4720600-4721000	Enhancers	Lung	lung
31	chr10:4720600-4721000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr10:4720600-4721000	Flanking Active TSS	HUVEC	blood vessel
33	chr10:4720600-4721200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:4720600-4721200	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr10:4720600-4721200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr10:4720600-4721200	Enhancers	Gastric	stomach
37	chr10:4720600-4721200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr10:4720600-4721400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr10:4720600-4721800	Enhancers	Pancreas	Pancrea
40	chr10:4720600-4721800	Enhancers	NH-A	brain
41	chr10:4720600-4722600	Enhancers	Stomach Mucosa	stomach
42	chr10:4720800-4721000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr10:4720800-4721000	Enhancers	Left Ventricle	heart
44	chr10:4720800-4721200	Enhancers	Right Atrium	heart
45	chr10:4720800-4721800	Enhancers	HMEC	breast
46	chr10:4720800-4722800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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