Variant report

Variant	rs73596588
Chromosome Location	chr10:22542396-22542397
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	YY1	chr10:22540542-22542468	GM12892	blood:	n/a	chr10:22542257-22542271 chr10:22541528-22541539 chr10:22542283-22542294 chr10:22541403-22541417 chr10:22541235-22541245
2	POLR2A	chr10:22540565-22542735	GM19099	blood:	n/a	n/a
3	POLR2A	chr10:22540590-22542618	GM12892	blood:	n/a	n/a
4	POLR2A	chr10:22540655-22542448	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:22542361-22542400	MCF-7	breast:	n/a	n/a
6	POLR2A	chr10:22540177-22542863	PBDE	blood:	n/a	n/a
7	PML	chr10:22540395-22542550	GM12878	blood:	n/a	chr10:22542155-22542163 chr10:22541044-22541052
8	CTBP2	chr10:22540651-22542820	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr10:22540637-22542463	GM12878	blood:	n/a	n/a
10	RAD21	chr10:22541906-22542433	H1-hESC	embryonic stem cell:	n/a	chr10:22542353-22542362
11	STAT5A	chr10:22540537-22542442	GM12878	blood:	n/a	chr10:22540693-22540704 chr10:22540979-22540991
12	POLR2A	chr10:22540624-22542585	MCF-7	breast:	n/a	n/a
13	POLR2A	chr10:22540577-22542766	GM18505	blood:	n/a	n/a
14	POLR2A	chr10:22540588-22542400	GM15510	blood:	n/a	n/a
15	CHD1	chr10:22542181-22542476	H1-hESC	embryonic stem cell:	n/a	n/a
16	ELF1	chr10:22541191-22542842	GM12878	blood:	n/a	chr10:22541367-22541379
17	RAD21	chr10:22542065-22542508	H1-hESC	embryonic stem cell:	n/a	chr10:22542353-22542362
18	POLR2A	chr10:22542247-22542533	GM12892	blood:	n/a	n/a
19	GATA1	chr10:22541832-22542819	PBDE	blood:	n/a	chr10:22542216-22542223 chr10:22542214-22542224 chr10:22542214-22542223
20	MAZ	chr10:22542289-22542414	Hela-S3	cervix:	n/a	n/a
21	SUZ12	chr10:22541113-22542734	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr10:22540455-22542766	GM12892	blood:	n/a	n/a
23	POLR2A	chr10:22540592-22542819	GM19193	blood:	n/a	n/a
24	POLR2A	chr10:22540577-22542765	GM12892	blood:	n/a	n/a
25	POLR2A	chr10:22540051-22542613	H1-neurons	neurons:	n/a	n/a
26	TBP	chr10:22542313-22542430	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr10:22541848-22542740	H1-neurons	neurons:	n/a	n/a
28	HMGN3	chr10:22542303-22542714	K562	blood:	n/a	n/a
29	ZNF143	chr10:22541347-22542423	H1-hESC	embryonic stem cell:	n/a	chr10:22541664-22541682
30	SIN3A	chr10:22541648-22542475	H1-hESC	embryonic stem cell:	n/a	chr10:22542202-22542215 chr10:22542178-22542189

No.	Distal block	Cell Line	Cell type
1	chr10:22538223..22543352-chr10:22603196..22608426,8	MCF-7	breast:
2	chr10:22541584..22543235-chr10:22725368..22728204,2	MCF-7	breast:
3	chr10:22540346..22542446-chr10:22551121..22553142,2	MCF-7	breast:
4	chr10:22390658..22392555-chr10:22540780..22543076,2	MCF-7	breast:
5	chr10:22536525..22546833-chr10:22602936..22612723,20	MCF-7	breast:
6	chr10:22540922..22542906-chr10:22612759..22615033,3	MCF-7	breast:
7	chr10:22540098..22542927-chr10:22544889..22548802,4	K562	blood:
8	chr10:22534708..22536528-chr10:22542036..22544265,2	K562	blood:
9	chr10:22540191..22542428-chr10:22567226..22569490,2	MCF-7	breast:
10	chr10:22532104..22538523-chr10:22539605..22546070,9	MCF-7	breast:
11	chr10:22517040..22520023-chr10:22539675..22542427,3	MCF-7	breast:
12	chr10:22290648..22292740-chr10:22540450..22543977,4	MCF-7	breast:
13	chr10:22540297..22545279-chr10:22608851..22612866,8	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAJC1-1	chr10:22540633-22542978	XLOC_008747
2	lnc-COMMD3-1	chr10:22541001-22547477	NONHSAT011733
3	lnc-COMMD3-1	chr10:22541001-22543518	NONHSAT011734

Variant related genes	Relation type
ENSG00000261671	TF binding region
ENSG00000148444	Chromatin interaction
ENSG00000261671	Chromatin interaction
ENSG00000136770	Chromatin interaction
ENSG00000269897	Chromatin interaction
ENSG00000168283	Chromatin interaction

rs_ID	r²[population]
rs1034025	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11012912	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11012914	1.00[ASN][1000 genomes]
rs11012928	1.00[ASN][1000 genomes]
rs12247178	1.00[ASN][1000 genomes]
rs12254097	1.00[ASN][1000 genomes]
rs12261069	1.00[ASN][1000 genomes]
rs16906095	1.00[ASN][1000 genomes]
rs56158165	0.83[EUR][1000 genomes]
rs7083590	1.00[ASN][1000 genomes]
rs7915647	0.83[EUR][1000 genomes]

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22539400-22543000	Active TSS	Right Atrium	heart
2	chr10:22539800-22542400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr10:22539800-22542800	Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr10:22539800-22543000	Active TSS	Stomach Smooth Muscle	stomach
5	chr10:22540000-22542400	Active TSS	Monocytes-CD14+_RO01746	blood
6	chr10:22540000-22542600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:22540000-22542600	Active TSS	Ovary	ovary
8	chr10:22540000-22542800	Active TSS	Aorta	Aorta
9	chr10:22540000-22542800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr10:22540000-22542800	Active TSS	Fetal Kidney	kidney
11	chr10:22540000-22542800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr10:22540000-22542800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr10:22540000-22543000	Active TSS	Brain Cingulate Gyrus	brain
14	chr10:22540000-22543000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr10:22540200-22542400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:22540200-22542400	Active TSS	Esophagus	oesophagus
17	chr10:22540200-22542600	Active TSS	Psoas Muscle	Psoas
18	chr10:22540200-22542800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr10:22540200-22542800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr10:22540200-22542800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr10:22540200-22542800	Active TSS	Primary monocytes fromperipheralblood	blood
22	chr10:22540200-22542800	Active TSS	Brain Angular Gyrus	brain
23	chr10:22540200-22542800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:22540200-22542800	Active TSS	Brain Substantia Nigra	brain
25	chr10:22540200-22542800	Active TSS	Duodenum Mucosa	Duodenum
26	chr10:22540200-22542800	Active TSS	Left Ventricle	heart
27	chr10:22540200-22542800	Active TSS	Rectal Smooth Muscle	rectum
28	chr10:22540200-22542800	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr10:22540200-22543000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr10:22540200-22543000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:22540200-22543000	Active TSS	Brain Anterior Caudate	brain
32	chr10:22540200-22543000	Active TSS	Brain Hippocampus Middle	brain
33	chr10:22540200-22543000	Active TSS	Colon Smooth Muscle	Colon
34	chr10:22540200-22543000	Active TSS	Right Ventricle	heart
35	chr10:22540200-22543000	Active TSS	NHDF-Ad	bronchial
36	chr10:22540400-22542400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:22540400-22542400	Active TSS	NHLF	lung
38	chr10:22540400-22542600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr10:22540400-22542600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr10:22540400-22542600	Active TSS	Colonic Mucosa	Colon
41	chr10:22540400-22542600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
42	chr10:22540400-22542600	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr10:22540400-22542800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr10:22540400-22542800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr10:22540400-22542800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:22540400-22542800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr10:22540400-22543000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr10:22540400-22543000	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr10:22540600-22542400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr10:22540600-22542400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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