Variant report

Variant	rs61859056
Chromosome Location	chr10:43950320-43950321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr10:43950113-43950467	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr10:43950176-43951572	GM12891	blood:	n/a	n/a
3	FOS	chr10:43950039-43950463	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr10:43950133-43950421	MCF10A-Er-Src	breast:	n/a	n/a
5	PAX5	chr10:43950184-43950566	GM12892	blood:	n/a	chr10:43950358-43950377
6	POLR2A	chr10:43949922-43951825	Hela-S3	cervix:	n/a	n/a
7	EBF1	chr10:43950192-43950392	GM12878	blood:	n/a	n/a
8	STAT3	chr10:43949939-43950426	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr10:43950129-43951526	HCT-116	colon:	n/a	n/a
10	PAX5	chr10:43950165-43950453	GM12878	blood:	n/a	chr10:43950358-43950377
11	POLR2A	chr10:43950176-43951667	GM12878	blood:	n/a	n/a
12	PAX5	chr10:43950209-43950444	GM12891	blood:	n/a	chr10:43950358-43950377
13	POLR2A	chr10:43950223-43950367	A549	lung:	n/a	n/a
14	PAX5	chr10:43950130-43950598	GM12891	blood:	n/a	chr10:43950358-43950377
15	POLR2A	chr10:43949942-43951628	HepG2	liver:	n/a	n/a
16	HEY1	chr10:43950167-43950597	HepG2	liver:	n/a	n/a
17	RCOR1	chr10:43950176-43951489	K562	blood:	n/a	n/a
18	POLR2A	chr10:43950166-43950366	MCF10A-Er-Src	breast:	n/a	n/a
19	MAX	chr10:43950316-43951480	Hela-S3	cervix:	n/a	chr10:43951194-43951204
20	MYC	chr10:43950113-43950337	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr10:43950176-43950499	ECC-1	luminal epithelium:	n/a	n/a
22	ZNF384	chr10:43950219-43951535	K562	blood:	n/a	n/a
23	JUN	chr10:43950316-43951439	K562	blood:	n/a	chr10:43950832-43950841
24	POLR2A	chr10:43950267-43950393	HUVEC	blood vessel:	n/a	n/a
25	FOS	chr10:43949980-43950336	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr10:43949975-43951808	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr10:43950109-43951641	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr10:43950206-43950401	Hela-S3	cervix:	n/a	n/a
29	CBX3	chr10:43950319-43951547	K562	blood:	n/a	n/a
30	MYC	chr10:43950160-43950467	K562	blood:	n/a	n/a
31	PAX5	chr10:43950185-43950605	GM12878	blood:	n/a	chr10:43950358-43950377
32	STAT3	chr10:43949925-43950441	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr10:43950237-43950473	MCF10A-Er-Src	breast:	n/a	n/a
34	PAX5	chr10:43950014-43951592	GM12878	blood:	n/a	chr10:43950358-43950377
35	POLR2A	chr10:43950232-43951584	K562	blood:	n/a	n/a
36	POLR2A	chr10:43950127-43951586	Raji	blood:	n/a	n/a
37	POLR2A	chr10:43948408-43950459	K562	blood:	n/a	n/a
38	MXI1	chr10:43949978-43952014	SK-N-SH	brain:	n/a	n/a
39	HCFC1	chr10:43950005-43951772	Hela-S3	cervix:	n/a	n/a
40	RCOR1	chr10:43950318-43950455	K562	blood:	n/a	n/a
41	POLR2A	chr10:43950182-43951532	Hela-S3	cervix:	n/a	n/a
42	MYC	chr10:43950194-43951713	A549	lung:	n/a	chr10:43951194-43951204 chr10:43951662-43951671
43	CTCF	chr10:43949877-43951662	A549	lung:	n/a	chr10:43951188-43951201 chr10:43951188-43951201
44	ZNF384	chr10:43950225-43951657	GM12878	blood:	n/a	n/a
45	ARID3A	chr10:43949958-43950398	K562	blood:	n/a	chr10:43950094-43950110 chr10:43950095-43950111
46	PAX5	chr10:43950224-43950589	GM12892	blood:	n/a	chr10:43950358-43950377
47	STAT3	chr10:43950256-43950441	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr10:43950149-43951603	HepG2	liver:	n/a	n/a
49	PAX5	chr10:43950088-43950649	GM12878	blood:	n/a	chr10:43950358-43950377

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43890245..43893733-chr10:43950048..43952889,6	MCF-7	breast:
2	chr10:43930874..43934590-chr10:43949528..43951985,5	K562	blood:
3	chr10:43941606..43943262-chr10:43948647..43951071,2	K562	blood:
4	chr10:43943576..43945411-chr10:43948645..43950880,3	K562	blood:
5	chr10:43930912..43933891-chr10:43949765..43952473,2	MCF-7	breast:
6	chr10:43901812..43907473-chr10:43949275..43952974,10	MCF-7	breast:
7	chr10:43943911..43945434-chr10:43948722..43951171,2	K562	blood:
8	chr10:43901457..43906189-chr10:43948713..43953343,15	MCF-7	breast:
9	chr10:43873108..43875014-chr10:43949897..43951449,2	MCF-7	breast:
10	chr10:43936170..43937727-chr10:43949180..43951482,2	K562	blood:
11	chr10:43930995..43932996-chr10:43948327..43951510,4	MCF-7	breast:
12	chr10:43930579..43934633-chr10:43949587..43954210,8	K562	blood:
13	chr10:43949801..43952727-chr10:43954596..43956488,2	K562	blood:
14	chr10:43879008..43883052-chr10:43949060..43952010,4	K562	blood:
15	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:
16	chr10:43870160..43871851-chr10:43949319..43951127,2	K562	blood:
17	chr10:43911252..43915931-chr10:43947419..43953058,11	K562	blood:
18	chr10:43627846..43629812-chr10:43949742..43951842,2	MCF-7	breast:
19	chr10:43848475..43851407-chr10:43948589..43951104,3	MCF-7	breast:
20	chr10:43945671..43947485-chr10:43949391..43951784,2	K562	blood:

No data

Variant related genes	Relation type
RNU7-193P	TF binding region
ENSG00000221400	Chromatin interaction
ENSG00000169813	Chromatin interaction
ENSG00000243660	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11548184	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11813634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11813872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11814130	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11816311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11817218	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11817723	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11817841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11818610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11819010	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12354765	0.88[ASN][1000 genomes]
rs12569974	0.88[ASN][1000 genomes]
rs12570067	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12570790	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571047	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571447	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571906	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12571914	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572226	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572292	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34634785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41306552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41307500	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55659835	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57862979	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59770090	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60057912	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60274910	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61113633	0.92[ASN][1000 genomes]
rs61858960	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858962	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858963	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858964	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858965	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858966	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61858967	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858989	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858996	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858997	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858998	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858999	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859003	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859005	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859006	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859048	0.89[EUR][1000 genomes]
rs61859049	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859050	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859051	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859052	0.91[EUR][1000 genomes]
rs61859054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859058	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859967	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859968	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860000	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860003	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860005	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61860013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61860014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61860885	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860886	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860887	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860890	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[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	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
2	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
3	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
4	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
5	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43940800-43950600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:43943000-43950400	Weak transcription	Fetal Intestine Large	intestine
3	chr10:43943200-43950400	Weak transcription	Fetal Stomach	stomach
4	chr10:43946400-43950600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr10:43947200-43950400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr10:43947200-43950400	Flanking Active TSS	Dnd41	blood
7	chr10:43947200-43950600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:43947800-43950400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:43947800-43950600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:43947800-43950600	Weak transcription	Small Intestine	intestine
11	chr10:43948200-43950800	Weak transcription	Spleen	Spleen
12	chr10:43949000-43950400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr10:43949600-43950400	Flanking Active TSS	A549	lung
14	chr10:43949600-43950600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:43949600-43951400	Active TSS	Right Ventricle	heart
16	chr10:43949800-43950400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:43949800-43950400	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr10:43949800-43950400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr10:43949800-43950400	Flanking Active TSS	Liver	Liver
20	chr10:43949800-43950400	Flanking Active TSS	Hela-S3	cervix
21	chr10:43949800-43950600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr10:43949800-43951000	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr10:43949800-43951400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:43949800-43951400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr10:43950000-43950400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:43950000-43950400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr10:43950000-43950400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr10:43950000-43950400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:43950000-43950400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr10:43950000-43950400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr10:43950000-43950400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr10:43950000-43950400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr10:43950000-43950600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr10:43950000-43950600	Enhancers	Fetal Kidney	kidney
35	chr10:43950000-43951400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr10:43950000-43951400	Active TSS	Thymus	Thymus
37	chr10:43950000-43951400	Active TSS	GM12878-XiMat	blood
38	chr10:43950000-43951400	Active TSS	K562	blood
39	chr10:43950000-43951400	Active TSS	NHDF-Ad	bronchial
40	chr10:43950000-43951600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr10:43950000-43951800	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr10:43950000-43951800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr10:43950000-43952000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr10:43950200-43950400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr10:43950200-43950400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr10:43950200-43950400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr10:43950200-43950400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr10:43950200-43950400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr10:43950200-43950400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr10:43950200-43950400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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