Variant report

Variant	rs61859049
Chromosome Location	chr10:43942577-43942578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:43942560-43942710	A549	lung:	n/a	n/a
2	CTCF	chr10:43942556-43942628	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr10:43942571-43942625	MCF-7	breast:	n/a	n/a
4	MYC	chr10:43942546-43942581	MCF-7	breast:	n/a	n/a
5	CTCF	chr10:43942554-43942616	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43942529-43942579	HEK293	kidney:	embryo
2	chr10:43942529-43942579	PFSK-1	brain:	n/a
3	chr10:43942529-43942579	BJ	skin:	n/a
4	chr10:43942529-43942579	SK-N-SH	brain:	n/a
5	chr10:43942529-43942579	AG09309	skin:	n/a
6	chr10:43942529-43942579	AG04450	lung:	fetal
7	chr10:43942529-43942579	HRE	kidney:	n/a
8	chr10:43942529-43942579	CMK	blood:	n/a
9	chr10:43942529-43942579	BE2_C	brain:	n/a
10	chr10:43942529-43942579	HIPEpiC	eye:	n/a
11	chr10:43942529-43942579	GM12878	blood:	n/a
12	chr10:43942529-43942579	HUVEC	blood vessel:	n/a
13	chr10:43942529-43942579	GM06990	blood:	n/a
14	chr10:43942529-43942579	ProgFib	skin:	n/a
15	chr10:43942529-43942579	NHDF-neo	bronchial:	n/a
16	chr10:43942529-43942579	HMEC	breast:	n/a
17	chr10:43942529-43942579	NB4	blood:	n/a
18	chr10:43942529-43942579	SK-N-SH_RA	brain:	n/a
19	chr10:43942529-43942579	SAEC	small airway:	n/a
20	chr10:43942529-43942579	Hela-S3	cervix:	n/a
21	chr10:43942529-43942579	K562	blood:	n/a
22	chr10:43942529-43942579	NT2-D1	testis:	n/a
23	chr10:43942529-43942579	U87	brain:	n/a
24	chr10:43942529-43942579	HCF	heart:	n/a
25	chr10:43942529-43942579	HCM	heart:	n/a
26	chr10:43942529-43942579	T-47D	breast:	n/a
27	chr10:43942529-43942579	RPTEC	kidney:	n/a
28	chr10:43942529-43942579	HRPEpiC	eye:	n/a
29	chr10:43942529-43942579	AoSMC	blood vessel:	n/a
30	chr10:43942529-43942579	HCT-116	colon:	n/a
31	chr10:43942529-43942579	PrEC	prostate:	n/a
32	chr10:43942529-43942579	HNPCEpiC	eye:	n/a
33	chr10:43942529-43942579	NH-A	brain:	n/a
34	chr10:43942529-43942579	AG10803	skin:	n/a
35	chr10:43942529-43942579	AG09319	gingival:	n/a
36	chr10:43942529-43942579	H1-hESC	embryonic stem cell:	embryo
37	chr10:43942529-43942579	GM19239	blood:	n/a
38	chr10:43942529-43942579	Hepatocyte	liver:	n/a
39	chr10:43942529-43942579	ovcar-3	ovarian:	n/a
40	chr10:43942529-43942579	NHBE	bronchial:	n/a
41	chr10:43942529-43942579	ECC-1	luminal epithelium:	n/a
42	chr10:43942529-43942579	SKMC	muscle:	n/a
43	chr10:43942529-43942579	HAEpiC	amniotic membrane:	n/a
44	chr10:43942529-43942579	Caco-2	colon:	n/a
45	chr10:43942529-43942579	PANC-1	pancreas:	n/a
46	chr10:43942529-43942579	Jurkat	blood:	n/a
47	chr10:43942529-43942579	MCF10A-Er-Src	breast:	n/a
48	chr10:43942529-43942579	AG04449	skin:	fetal
49	chr10:43942529-43942579	HCPEpiC	choroid plexus:	n/a
50	chr10:43942529-43942579	IMR90	lung:	fetal

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43941921..43943568-chr10:43945828..43947483,2	MCF-7	breast:
2	chr10:43941606..43943262-chr10:43948647..43951071,2	K562	blood:
3	chr10:43939246..43942675-chr10:43946277..43949309,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF487	TF binding region
ZNF487	CpG island
ENSG00000243660	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs11548184	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11813634	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11813872	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11814130	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11816311	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11817218	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11817723	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11817841	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11818610	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11819010	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12354765	0.88[ASN][1000 genomes]
rs12569974	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12570067	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12570790	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571047	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571447	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571906	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12571914	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572226	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572292	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34634785	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41306552	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41307500	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55659835	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56305563	0.90[AFR][1000 genomes]
rs57050417	0.90[AFR][1000 genomes]
rs57862979	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58052353	0.90[AFR][1000 genomes]
rs59615405	0.90[AFR][1000 genomes]
rs59737279	0.81[AFR][1000 genomes]
rs59770090	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59946114	0.90[AFR][1000 genomes]
rs60057912	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60274910	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61113633	0.92[ASN][1000 genomes]
rs61858960	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858962	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858963	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858964	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858965	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858966	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61858967	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858989	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858996	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858997	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858998	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858999	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859003	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859005	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859006	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859048	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs61859050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859052	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61859054	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859055	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859056	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859058	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859962	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859963	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859965	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859966	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859967	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859968	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859970	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860000	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860003	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61860005	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61860008	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860009	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860012	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61860013	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61860014	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61860883	0.83[EUR][1000 genomes]
rs61860885	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860886	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860887	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860890	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74137733	0.90[AFR][1000 genomes]
rs74137734	0.90[AFR][1000 genomes]
rs74137735	0.90[AFR][1000 genomes]
rs74137736	0.90[AFR][1000 genomes]
rs74137737	0.81[AFR][1000 genomes]
rs74137738	0.90[AFR][1000 genomes]
rs74137739	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
7	esv3448813	chr10:43919995-43950867	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1043746	chr10:43940898-43977155	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43933000-43947200	Weak transcription	Spleen	Spleen
2	chr10:43933000-43949600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:43933000-43950200	Weak transcription	Lung	lung
4	chr10:43933200-43947600	Weak transcription	Brain Anterior Caudate	brain
5	chr10:43933200-43948000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:43933200-43950000	Weak transcription	Brain Substantia Nigra	brain
7	chr10:43933200-43950200	Weak transcription	Brain Angular Gyrus	brain
8	chr10:43933200-43950200	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:43933200-43950200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:43933200-43950200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:43933400-43948000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:43933600-43947200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr10:43933600-43947400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:43933600-43948200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:43933600-43948200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:43933600-43949800	Weak transcription	Adipose Nuclei	Adipose
17	chr10:43933800-43946600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr10:43934200-43949200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:43936400-43943800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr10:43936400-43950000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr10:43936600-43946000	Weak transcription	Primary B cells from cord blood	blood
22	chr10:43936800-43944200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr10:43938600-43948000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:43940000-43943800	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr10:43940000-43946800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr10:43940200-43950200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:43940400-43943800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr10:43940400-43950200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:43940400-43950200	Weak transcription	Colonic Mucosa	Colon
30	chr10:43940800-43944800	Weak transcription	Primary T cells from cord blood	blood
31	chr10:43940800-43947200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr10:43940800-43949600	Weak transcription	Hela-S3	cervix
33	chr10:43940800-43950600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr10:43941200-43947200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:43941800-43943200	ZNF genes & repeats	Fetal Stomach	stomach
36	chr10:43942200-43943000	ZNF genes & repeats	Fetal Intestine Large	intestine
37	chr10:43942200-43946000	Weak transcription	Thymus	Thymus
38	chr10:43942400-43942600	ZNF genes & repeats	Fetal Muscle Leg	muscle
39	chr10:43942400-43943400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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