Variant report

Variant	rs72793798
Chromosome Location	chr10:50742892-50742893
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	POU2F2	chr10:50742865-50743555	GM12891	blood:	n/a	chr10:50743324-50743342 chr10:50743326-50743340 chr10:50743329-50743338 chr10:50743329-50743339 chr10:50743329-50743339 chr10:50743330-50743337 chr10:50743328-50743340
2	PML	chr10:50742886-50743616	GM12878	blood:	n/a	chr10:50743214-50743223
3	CREB1	chr10:50742791-50743571	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:50742788-50743586	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:50742525-50743610	GM12891	blood:	n/a	n/a
6	NFIC	chr10:50742888-50743505	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:50742840-50743607	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr10:50742616-50743074	MCF10A-Er-Src	breast:	n/a	n/a
9	ZNF143	chr10:50742869-50743406	GM12878	blood:	n/a	n/a
10	POLR2A	chr10:50742760-50743563	GM12892	blood:	n/a	n/a
11	BCLAF1	chr10:50742848-50743579	GM12878	blood:	n/a	chr10:50743091-50743100 chr10:50743212-50743221
12	NFYB	chr10:50742845-50743418	GM12878	blood:	n/a	n/a
13	FOXM1	chr10:50742881-50743622	GM12878	blood:	n/a	n/a
14	ATF2	chr10:50742842-50743590	GM12878	blood:	n/a	n/a
15	SPI1	chr10:50742801-50743462	GM12891	blood:	n/a	chr10:50743091-50743100
16	NFIC	chr10:50742780-50743493	GM12878	blood:	n/a	n/a
17	POLR2A	chr10:50742848-50743376	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr10:50742818-50743655	GM12892	blood:	n/a	n/a
19	FOXM1	chr10:50742854-50743448	GM12878	blood:	n/a	n/a
20	POLR2A	chr10:50742821-50743153	GM12891	blood:	n/a	n/a
21	MTA3	chr10:50742774-50743595	GM12878	blood:	n/a	n/a
22	GATA2	chr10:50742871-50743519	HUVEC	blood vessel:	n/a	chr10:50743157-50743167 chr10:50743261-50743273 chr10:50743261-50743275
23	SRF	chr10:50742884-50743425	GM12878	blood:	n/a	chr10:50743053-50743064
24	POLR2A	chr10:50742692-50743645	HUVEC	blood vessel:	n/a	n/a
25	SPI1	chr10:50742745-50743612	GM12878	blood:	n/a	chr10:50743526-50743533 chr10:50743091-50743100
26	BHLHE40	chr10:50742847-50743435	GM12878	blood:	n/a	n/a
27	POLR2A	chr10:50742776-50743640	GM12892	blood:	n/a	n/a
28	YY1	chr10:50742837-50743164	GM12892	blood:	n/a	n/a
29	SPI1	chr10:50742889-50743464	GM12891	blood:	n/a	chr10:50743091-50743100
30	POLR2A	chr10:50742784-50743621	GM12878	blood:	n/a	n/a
31	POLR2A	chr10:50742887-50743515	GM12891	blood:	n/a	n/a
32	POLR2A	chr10:50742722-50743653	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr10:50742827-50743583	HUVEC	blood vessel:	n/a	n/a
34	BCLAF1	chr10:50742888-50743473	GM12878	blood:	n/a	chr10:50743091-50743100 chr10:50743212-50743221
35	PBX3	chr10:50742881-50743019	GM12878	blood:	n/a	n/a
36	POU2F2	chr10:50742876-50743618	GM12878	blood:	n/a	chr10:50743324-50743342 chr10:50743326-50743340 chr10:50743329-50743338 chr10:50743329-50743339 chr10:50743329-50743339 chr10:50743330-50743337 chr10:50743328-50743340
37	IRF4	chr10:50742852-50743558	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:50728212..50731102-chr10:50742607..50744631,2	K562	blood:
2	chr10:50736437..50738904-chr10:50740904..50743447,2	MCF-7	breast:
3	chr10:50735627..50740357-chr10:50740401..50744451,4	K562	blood:

Variant related genes	Relation type
ERCC6	TF binding region
ENSG00000225830	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1018603	1.00[ASN][1000 genomes]
rs10745261	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776572	1.00[ASN][1000 genomes]
rs10776573	1.00[ASN][1000 genomes]
rs10776577	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857502	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101147	1.00[ASN][1000 genomes]
rs1475255	1.00[ASN][1000 genomes]
rs1917800	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924490	1.00[ASN][1000 genomes]
rs1924492	1.00[ASN][1000 genomes]
rs2103201	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104346	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240509	0.90[EUR][1000 genomes]
rs4253026	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253073	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253077	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253087	1.00[ASN][1000 genomes]
rs4253120	1.00[ASN][1000 genomes]
rs4253132	1.00[ASN][1000 genomes]
rs4253162	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253164	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253179	1.00[ASN][1000 genomes]
rs4838523	1.00[ASN][1000 genomes]
rs4838524	1.00[ASN][1000 genomes]
rs4838530	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57509152	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537536	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537538	1.00[ASN][1000 genomes]
rs7072383	0.85[EUR][1000 genomes]
rs7076173	1.00[ASN][1000 genomes]
rs7080017	1.00[ASN][1000 genomes]
rs7091005	1.00[ASN][1000 genomes]
rs72792895	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902661	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7903788	1.00[ASN][1000 genomes]
rs7903930	1.00[ASN][1000 genomes]
rs7916873	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7923762	1.00[ASN][1000 genomes]
rs912470	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958967	1.00[ASN][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50717200-50746000	Weak transcription	Fetal Heart	heart
2	chr10:50720400-50746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:50725000-50746200	Weak transcription	Psoas Muscle	Psoas
4	chr10:50729000-50745800	Weak transcription	Stomach Mucosa	stomach
5	chr10:50730000-50746400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:50731600-50746200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:50731800-50745800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr10:50732400-50746000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr10:50732600-50746000	Weak transcription	Small Intestine	intestine
10	chr10:50733600-50746000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:50735600-50746200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr10:50736000-50746000	Weak transcription	A549	lung
13	chr10:50736600-50746000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr10:50737400-50744600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr10:50737600-50744400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:50738200-50745800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr10:50738400-50745800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr10:50738400-50745800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr10:50739600-50746200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:50740600-50745800	Weak transcription	Primary B cells from cord blood	blood
21	chr10:50740600-50746200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr10:50740800-50743000	Weak transcription	Brain Angular Gyrus	brain
23	chr10:50740800-50744600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr10:50740800-50744600	Weak transcription	Brain Substantia Nigra	brain
25	chr10:50740800-50745600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr10:50740800-50745600	Weak transcription	Fetal Brain Male	brain
27	chr10:50740800-50745800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:50740800-50745800	Weak transcription	Fetal Lung	lung
29	chr10:50740800-50746000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr10:50740800-50746000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr10:50740800-50746000	Weak transcription	Colon Smooth Muscle	Colon
32	chr10:50740800-50746000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr10:50740800-50746000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr10:50740800-50746200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:50740800-50746200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr10:50740800-50746200	Weak transcription	Fetal Kidney	kidney
37	chr10:50741000-50743000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:50741000-50743000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr10:50741000-50743000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr10:50741000-50743000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:50741000-50743000	Weak transcription	Adipose Nuclei	Adipose
42	chr10:50741000-50743000	Weak transcription	Aorta	Aorta
43	chr10:50741000-50743000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr10:50741000-50743000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr10:50741000-50743000	Weak transcription	Gastric	stomach
46	chr10:50741000-50743000	Weak transcription	Left Ventricle	heart
47	chr10:50741000-50743000	Weak transcription	Right Ventricle	heart
48	chr10:50741000-50743000	Weak transcription	Spleen	Spleen
49	chr10:50741000-50743200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr10:50741000-50743200	Weak transcription	Liver	Liver

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