Variant report

Variant	rs61859300
Chromosome Location	chr10:98347281-98347282
allele	C/T
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	POLR2A	chr10:98345763-98347305	HL-60	blood:	n/a	n/a
2	POLR2A	chr10:98345926-98347572	PFSK-1	brain:	n/a	n/a
3	CHD1	chr10:98346213-98347406	GM12878	blood:	n/a	chr10:98346594-98346604
4	MYC	chr10:98345601-98347312	NB4	blood:	n/a	n/a
5	POLR2A	chr10:98346172-98347281	ProgFib	skin:	n/a	n/a
6	POLR2A	chr10:98345931-98347317	Hela-S3	cervix:	n/a	n/a
7	RELA	chr10:98346339-98347836	GM10847	blood:	n/a	n/a
8	TBP	chr10:98346178-98347535	HepG2	liver:	n/a	n/a
9	IRF1	chr10:98346254-98347838	K562	blood:	n/a	chr10:98346773-98346787
10	POLR2A	chr10:98346522-98347442	U87	brain:	n/a	n/a
11	ELK1	chr10:98346681-98347386	Hela-S3	cervix:	n/a	chr10:98346845-98346854 chr10:98346845-98346854
12	MAX	chr10:98346223-98347313	HepG2	liver:	n/a	n/a
13	CTCF	chr10:98347180-98347330	HBMEC	blood vessel:	n/a	n/a
14	POU2F2	chr10:98346575-98347293	GM12878	blood:	n/a	chr10:98346783-98346795 chr10:98346777-98346789
15	JUND	chr10:98346704-98347315	HepG2	liver:	n/a	chr10:98346778-98346787 chr10:98346807-98346818
16	RCOR1	chr10:98346685-98347474	Hela-S3	cervix:	n/a	n/a
17	EP300	chr10:98346236-98347340	K562	blood:	n/a	chr10:98346846-98346853 chr10:98346976-98346985 chr10:98346779-98346795
18	CEBPB	chr10:98346725-98347355	IMR90	lung:	n/a	n/a
19	REST	chr10:98346555-98347287	PFSK-1	brain:	n/a	n/a
20	CTCF	chr10:98347220-98347370	HPAF	blood vessel:	n/a	n/a
21	CEBPB	chr10:98346883-98347307	MCF-7	breast:	n/a	n/a
22	MYBL2	chr10:98346773-98347470	HepG2	liver:	n/a	n/a
23	E2F4	chr10:98346735-98347367	MCF10A-Er-Src	breast:	n/a	chr10:98346777-98346786 chr10:98346917-98346927 chr10:98346774-98346786 chr10:98346786-98346795
24	GTF2F1	chr10:98347010-98347991	Hela-S3	cervix:	n/a	n/a
25	YY1	chr10:98346668-98347327	SK-N-SH_RA	brain:	n/a	chr10:98346919-98346930 chr10:98346869-98346883 chr10:98346774-98346785 chr10:98346777-98346786 chr10:98346872-98346886
26	YY1	chr10:98345953-98347294	ECC-1	luminal epithelium:	n/a	chr10:98346919-98346930 chr10:98346869-98346883 chr10:98346156-98346167 chr10:98346774-98346785 chr10:98346777-98346786 chr10:98346872-98346886
27	POLR2A	chr10:98345510-98347401	GM12891	blood:	n/a	n/a
28	POLR2A	chr10:98345782-98347348	GM12892	blood:	n/a	n/a
29	CTCF	chr10:98347160-98347310	HRPEpiC	eye:	n/a	n/a
30	POLR2A	chr10:98346024-98347314	GM18526	blood:	n/a	n/a
31	MAZ	chr10:98346239-98347411	HepG2	liver:	n/a	n/a
32	STAT3	chr10:98347068-98347363	MCF10A-Er-Src	breast:	n/a	n/a
33	GABPA	chr10:98345960-98347383	SK-N-SH	brain:	n/a	chr10:98346910-98346919 chr10:98346976-98346985 chr10:98346777-98346786
34	MYC	chr10:98346160-98347294	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr10:98345375-98348129	GM12878	blood:	n/a	n/a
36	RAD21	chr10:98347014-98347349	Hela-S3	cervix:	n/a	n/a
37	NR2F2	chr10:98346976-98347291	K562	blood:	n/a	n/a
38	CHD1	chr10:98346902-98347529	H1-hESC	embryonic stem cell:	n/a	n/a
39	TCF12	chr10:98345811-98347350	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr10:98344907-98348506	MCF10A-Er-Src	breast:	n/a	n/a
41	CEBPB	chr10:98346927-98347296	ECC-1	luminal epithelium:	n/a	n/a
42	MAX	chr10:98346586-98347289	H1-hESC	embryonic stem cell:	n/a	n/a
43	MXI1	chr10:98346140-98347371	HepG2	liver:	n/a	n/a
44	TCF12	chr10:98346660-98347425	A549	lung:	n/a	chr10:98347346-98347355
45	POLR2A	chr10:98346045-98347354	GM12892	blood:	n/a	n/a
46	RCOR1	chr10:98345847-98347379	K562	blood:	n/a	n/a
47	CTCF	chr10:98347180-98347330	HMF	breast:	n/a	n/a
48	POLR2A	chr10:98345979-98347292	MCF-7	breast:	n/a	n/a
49	POLR2A	chr10:98346932-98347873	U87	brain:	n/a	n/a
50	CTCF	chr10:98347200-98347350	AG10803	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:98346870..98347510-chr5:147762984..147763553,2	Hela-S3	cervix:
2	chr10:98336275..98339517-chr10:98344498..98348223,6	MCF-7	breast:
3	chr10:98345733..98347828-chr10:98591279..98593531,2	MCF-7	breast:
4	chr1:25573131..25573708-chr10:98346304..98347301,2	Hela-S3	cervix:
5	chr10:98344586..98349024-chr10:98390080..98394763,4	MCF-7	breast:
6	chr10:98345052..98347789-chr10:98590945..98593407,3	K562	blood:

Variant related genes	Relation type
TM9SF3	TF binding region
ENSG00000196233	Chromatin interaction
ENSG00000155629	Chromatin interaction
ENSG00000077147	Chromatin interaction
ENSG00000117616	Chromatin interaction
ENSG00000247199	Chromatin interaction
ENSG00000145868	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10128106	0.82[ASN][1000 genomes]
rs1018604	0.94[ASN][1000 genomes]
rs1018605	0.94[ASN][1000 genomes]
rs1051450	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1062176	0.84[EUR][1000 genomes]
rs1063605	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882809	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10882811	0.82[ASN][1000 genomes]
rs10882813	0.82[ASN][1000 genomes]
rs10882815	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10882817	0.82[ASN][1000 genomes]
rs10882821	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10882827	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11188809	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11188810	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11188811	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11188813	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11188814	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11188815	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11188817	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11188821	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11188822	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11188825	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11188831	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11188832	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11188833	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11188840	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11188842	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188844	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188847	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11188848	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11188853	0.85[ASN][1000 genomes]
rs11188858	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1132913	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1132914	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1156035	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1156036	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11814010	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12218847	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12219275	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12220047	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12221143	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12221262	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12413053	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12414612	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12415048	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12416646	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12761817	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12766248	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12775533	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12776810	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12779720	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1324255	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1324256	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1324259	0.94[ASN][1000 genomes]
rs1324261	0.86[ASN][1000 genomes]
rs1408367	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17391547	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17482382	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2011190	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2025451	0.94[ASN][1000 genomes]
rs2031326	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2031329	0.82[ASN][1000 genomes]
rs2861555	0.82[ASN][1000 genomes]
rs33964467	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35779764	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36098523	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3689	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3748236	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3748237	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748238	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3789957	0.82[ASN][1000 genomes]
rs3789958	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3818389	0.82[ASN][1000 genomes]
rs4146727	0.86[ASN][1000 genomes]
rs4485036	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4534508	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4919029	0.82[ASN][1000 genomes]
rs4919032	0.91[ASN][1000 genomes]
rs4919037	0.94[ASN][1000 genomes]
rs58305369	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858194	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61858494	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7069429	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7070686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7071044	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7071224	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7071881	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7073017	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7073682	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7074516	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7082873	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7085389	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086213	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086240	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7087478	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7091606	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7097291	0.94[ASN][1000 genomes]
rs7101320	0.83[ASN][1000 genomes]
rs713251	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7448	0.94[ASN][1000 genomes]
rs7919739	0.82[ASN][1000 genomes]
rs8578	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927639	0.83[ASN][1000 genomes]
rs9633703	0.91[ASN][1000 genomes]
rs9664749	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9664955	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413353	chr10:98039370-98561524	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv3358283	chr10:98345587-98348135	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
3	esv3446584	chr10:98345712-98347935	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98344400-98347400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr10:98344400-98347600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr10:98344400-98347600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr10:98344600-98347400	Active TSS	Fetal Intestine Large	intestine
5	chr10:98344600-98347400	Active TSS	Fetal Intestine Small	intestine
6	chr10:98344600-98347600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:98344600-98347600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:98344600-98347800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr10:98344600-98347800	Active TSS	Right Ventricle	heart
10	chr10:98344800-98347400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr10:98344800-98347600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:98344800-98347600	Active TSS	NHDF-Ad	bronchial
13	chr10:98344800-98348000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:98345000-98347400	Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr10:98345000-98347400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr10:98345000-98347400	Active TSS	GM12878-XiMat	blood
17	chr10:98345000-98347600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr10:98345000-98347600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:98345000-98347600	Active TSS	A549	lung
20	chr10:98345000-98347800	Active TSS	Right Atrium	heart
21	chr10:98345000-98347800	Active TSS	Thymus	Thymus
22	chr10:98345200-98347400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr10:98345200-98347600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr10:98345200-98347600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:98345200-98347800	Active TSS	Ovary	ovary
26	chr10:98345200-98348000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:98345200-98348000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr10:98345400-98347400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr10:98345400-98347400	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr10:98345400-98347400	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr10:98345400-98347400	Active TSS	NHEK	skin
32	chr10:98345400-98347600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr10:98345400-98347600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:98345400-98347600	Active TSS	Left Ventricle	heart
35	chr10:98345400-98347600	Active TSS	Small Intestine	intestine
36	chr10:98345400-98347600	Active TSS	Stomach Mucosa	stomach
37	chr10:98345400-98347800	Active TSS	Placenta Amnion	Placenta Amnion
38	chr10:98345400-98347800	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr10:98345400-98348000	Active TSS	Aorta	Aorta
40	chr10:98345600-98347400	Active TSS	Esophagus	oesophagus
41	chr10:98345600-98347400	Active TSS	Gastric	stomach
42	chr10:98345600-98347400	Active TSS	Lung	lung
43	chr10:98345600-98347600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr10:98345600-98347600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr10:98345600-98347600	Active TSS	Hela-S3	cervix
46	chr10:98345600-98348000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr10:98345600-98348000	Active TSS	Fetal Muscle Trunk	muscle
48	chr10:98345800-98347400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr10:98345800-98347400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:98345800-98347400	Active TSS	HUES64 Cell Line	embryonic stem cell

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