Variant report

Variant	rs61858960
Chromosome Location	chr10:43897634-43897635
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:43897600-43898133	K562	blood:	n/a	n/a
2	POLR2A	chr10:43888984-43898060	K562	blood:	n/a	n/a
3	ZMIZ1	chr10:43896917-43898137	K562	blood:	n/a	n/a
4	POLR2A	chr10:43897614-43898740	K562	blood:	n/a	n/a
5	POLR2A	chr10:43897100-43898012	HepG2	liver:	n/a	n/a
6	POLR2A	chr10:43896710-43898313	GM12878	blood:	n/a	n/a
7	TBL1XR1	chr10:43896545-43898555	K562	blood:	n/a	n/a
8	POLR2A	chr10:43896978-43898593	H1-hESC	embryonic stem cell:	n/a	n/a
9	PML	chr10:43897246-43898503	K562	blood:	n/a	n/a
10	POLR2A	chr10:43894064-43898053	K562	blood:	n/a	n/a
11	POLR2A	chr10:43878581-43905107	K562	blood:	n/a	n/a
12	POLR2A	chr10:43897596-43899629	PANC-1	pancreas:	n/a	n/a
13	CHD1	chr10:43896721-43897839	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr10:43897579-43898086	HepG2	liver:	n/a	n/a
15	POLR2A	chr10:43896567-43899658	K562	blood:	n/a	n/a
16	POLR2A	chr10:43897031-43899315	K562	blood:	n/a	n/a
17	POLR2A	chr10:43894101-43899596	HepG2	liver:	n/a	n/a
18	POLR2A	chr10:43893441-43899649	A549	lung:	n/a	n/a
19	POLR2A	chr10:43897088-43899002	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43897221..43899956-chr10:43931853..43934040,2	MCF-7	breast:
2	chr10:43896691..43898311-chr10:43965557..43968541,2	K562	blood:
3	chr10:43857152..43860399-chr10:43897567..43900656,3	MCF-7	breast:
4	chr10:43897271..43897865-chr10:43957498..43958033,2	K562	blood:
5	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:

No data

Variant related genes	Relation type
HNRNPF	TF binding region
ENSG00000243660	Chromatin interaction
ENSG00000252532	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11548184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11813634	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11813872	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11814130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11816311	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11817218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11817723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11817841	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11818610	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11819010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354765	0.96[ASN][1000 genomes]
rs12569974	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12570067	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12570790	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12571047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12571447	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12571906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571914	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12572226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12572292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34634785	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs41306552	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs41307500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55659835	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57862979	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59770090	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60057912	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60274910	0.83[AMR][1000 genomes]
rs61113633	0.85[ASN][1000 genomes]
rs61858962	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858966	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61858967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858989	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858996	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859003	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859048	0.83[EUR][1000 genomes]
rs61859049	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859050	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859051	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859054	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859055	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859056	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859058	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61859962	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859963	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859965	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859966	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859967	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859968	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859970	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860000	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860003	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860005	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860008	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860009	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860012	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61860013	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860014	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860882	1.00[AFR][1000 genomes]
rs61860883	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61860885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61860886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61860887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61860890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825355	chr10:43890579-43923802	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43893200-43898400	Genic enhancers	Hela-S3	cervix
2	chr10:43893200-43901600	Weak transcription	HSMMtube	muscle
3	chr10:43893400-43899800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr10:43893400-43901400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr10:43893600-43899000	Enhancers	HUVEC	blood vessel
6	chr10:43893600-43899800	Genic enhancers	NHEK	skin
7	chr10:43893600-43901200	Weak transcription	Brain Angular Gyrus	brain
8	chr10:43893600-43902200	Weak transcription	Aorta	Aorta
9	chr10:43893800-43898400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr10:43893800-43898800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:43893800-43899000	Weak transcription	Brain Substantia Nigra	brain
12	chr10:43894000-43899400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:43894000-43899800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:43894000-43901200	Weak transcription	Brain Hippocampus Middle	brain
15	chr10:43894000-43901200	Genic enhancers	Fetal Intestine Small	intestine
16	chr10:43894000-43901400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:43894200-43899200	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr10:43894200-43899200	Transcr. at gene 5' and 3'	K562	blood
19	chr10:43894200-43901200	Weak transcription	Brain Anterior Caudate	brain
20	chr10:43894200-43901400	Weak transcription	Fetal Brain Male	brain
21	chr10:43894400-43898800	Genic enhancers	HMEC	breast
22	chr10:43894400-43899800	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr10:43894400-43900200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr10:43894400-43901200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr10:43894400-43901200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr10:43894400-43901600	Weak transcription	Brain Germinal Matrix	brain
27	chr10:43894800-43899800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr10:43894800-43899800	Genic enhancers	Monocytes-CD14+_RO01746	blood
29	chr10:43894800-43901400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr10:43894800-43901600	Weak transcription	Fetal Brain Female	brain
31	chr10:43895000-43898400	Weak transcription	Colonic Mucosa	Colon
32	chr10:43895000-43898400	Weak transcription	Fetal Stomach	stomach
33	chr10:43895000-43898600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr10:43895000-43898600	Weak transcription	Right Atrium	heart
35	chr10:43895000-43899000	Genic enhancers	NHDF-Ad	bronchial
36	chr10:43895000-43899200	Weak transcription	Lung	lung
37	chr10:43895000-43899400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr10:43895000-43899400	Weak transcription	Right Ventricle	heart
39	chr10:43895000-43900000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr10:43895000-43901200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr10:43895000-43901200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr10:43895200-43898200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:43895200-43899200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr10:43895200-43899400	Strong transcription	HSMM	muscle
45	chr10:43895200-43901200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr10:43895200-43901600	Weak transcription	Fetal Kidney	kidney
47	chr10:43895400-43897800	Enhancers	Liver	Liver
48	chr10:43895400-43898200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr10:43895400-43898600	Weak transcription	Pancreas	Pancrea
50	chr10:43895400-43899200	Enhancers	Primary T cells from cord blood	blood

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