Variant report

Variant	rs12262534
Chromosome Location	chr10:96991465-96991466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:96991364-96991495	A549	lung:	n/a	n/a
2	TAF1	chr10:96989981-96991587	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr10:96989084-96991483	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr10:96991411-96991589	H1-hESC	embryonic stem cell:	n/a	chr10:96991460-96991467
5	POLR2A	chr10:96991092-96991761	H1-hESC	embryonic stem cell:	n/a	n/a
6	TBP	chr10:96988973-96991592	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr10:96991367-96994281	GM12891	blood:	n/a	n/a
8	POLR2A	chr10:96991459-96991611	HepG2	liver:	n/a	n/a
9	POLR2A	chr10:96990687-96991829	K562	blood:	n/a	n/a
10	BACH1	chr10:96991400-96991618	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr10:96988854-96991765	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:96991431-96991481	SK-N-SH_RA	brain:	n/a
2	chr10:96991431-96991481	CMK	blood:	n/a
3	chr10:96991431-96991481	AG09319	gingival:	n/a
4	chr10:96991461-96991511	NT2-D1	testis:	n/a
5	chr10:96991431-96991481	HL-60	blood:	n/a
6	chr10:96991461-96991511	HCM	heart:	n/a
7	chr10:96991431-96991481	GM12892	blood:	n/a
8	chr10:96991431-96991481	HEEpiC	esophagus:	n/a
9	chr10:96991461-96991511	HepG2	liver:	n/a
10	chr10:96991431-96991481	LNCaP	prostate:	n/a
11	chr10:96991461-96991511	HCPEpiC	choroid plexus:	n/a
12	chr10:96991461-96991511	SAEC	small airway:	n/a
13	chr10:96991431-96991481	NH-A	brain:	n/a
14	chr10:96991461-96991511	ECC-1	luminal epithelium:	n/a
15	chr10:96991431-96991481	BJ	skin:	n/a
16	chr10:96991431-96991481	HepG2	liver:	n/a
17	chr10:96991431-96991481	ECC-1	luminal epithelium:	n/a
18	chr10:96991461-96991511	PANC-1	pancreas:	n/a
19	chr10:96991461-96991511	AG10803	skin:	n/a
20	chr10:96991431-96991481	AG04449	skin:	fetal
21	chr10:96991431-96991481	SAEC	small airway:	n/a
22	chr10:96991431-96991481	RPTEC	kidney:	n/a
23	chr10:96991431-96991481	PrEC	prostate:	n/a
24	chr10:96991461-96991511	A549	lung:	n/a
25	chr10:96991431-96991481	GM12891	blood:	n/a
26	chr10:96991461-96991511	GM12891	blood:	n/a
27	chr10:96991431-96991481	HNPCEpiC	eye:	n/a
28	chr10:96991461-96991511	GM06990	blood:	n/a
29	chr10:96991431-96991481	A549	lung:	n/a
30	chr10:96991431-96991481	HCF	heart:	n/a
31	chr10:96991461-96991511	NH-A	brain:	n/a
32	chr10:96991461-96991511	RPTEC	kidney:	n/a
33	chr10:96991431-96991481	Hepatocyte	liver:	n/a
34	chr10:96991461-96991511	PrEC	prostate:	n/a
35	chr10:96991461-96991511	H1-hESC	embryonic stem cell:	embryo
36	chr10:96991431-96991481	T-47D	breast:	n/a
37	chr10:96991461-96991511	Caco-2	colon:	n/a
38	chr10:96991461-96991511	AG04450	lung:	fetal
39	chr10:96991431-96991481	HUVEC	blood vessel:	n/a
40	chr10:96991461-96991511	NHDF-neo	bronchial:	n/a
41	chr10:96991431-96991481	MCF-7	breast:	n/a
42	chr10:96991461-96991511	HNPCEpiC	eye:	n/a
43	chr10:96991461-96991511	HEEpiC	esophagus:	n/a
44	chr10:96991431-96991481	HIPEpiC	eye:	n/a
45	chr10:96991461-96991511	K562	blood:	n/a
46	chr10:96991431-96991481	SKMC	muscle:	n/a
47	chr10:96991431-96991481	U87	brain:	n/a
48	chr10:96991431-96991481	NB4	blood:	n/a
49	chr10:96991461-96991511	CMK	blood:	n/a
50	chr10:96991431-96991481	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96941976..96944883-chr10:96989765..96992078,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234026	TF binding region
ENSG00000234026	CpG island
ENSG00000225533	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10882570	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10882571	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11188236	1.00[ASN][1000 genomes]
rs11188238	0.95[ASN][1000 genomes]
rs11188239	0.97[ASN][1000 genomes]
rs11188240	0.97[ASN][1000 genomes]
rs11598953	0.97[ASN][1000 genomes]
rs11598991	0.89[ASN][1000 genomes]
rs11599546	0.97[ASN][1000 genomes]
rs12764831	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12764992	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12783947	0.95[ASN][1000 genomes]
rs12784385	1.00[ASN][1000 genomes]
rs2478480	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs489807	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs509736	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs513661	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs519833	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs589801	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs591171	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs594448	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs595420	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs595478	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs600929	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs602941	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs610837	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs611343	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs611371	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs612490	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs621299	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs627173	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs627719	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs628102	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs631107	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs632361	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs632979	0.91[EUR][1000 genomes]
rs633345	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs637465	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs637939	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs648695	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs649770	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs659949	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs660026	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs664093	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs667499	0.92[EUR][1000 genomes]
rs669360	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs685607	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs688706	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs689207	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs701886	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7909072	0.92[ASN][1000 genomes]
rs7924214	0.97[ASN][1000 genomes]
rs815250	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs815259	0.92[EUR][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	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv21432	chr10:96856006-96996043	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv1834151	chr10:96925446-96992955	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96970200-96992400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:96989800-96991600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr10:96990000-96991600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr10:96990000-96995400	Weak transcription	K562	blood
5	chr10:96990000-96995800	Weak transcription	HepG2	liver
6	chr10:96990200-96991600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:96990600-96991800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:96990600-96992400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr10:96990600-96994800	Weak transcription	Hela-S3	cervix
10	chr10:96990800-96991600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr10:96990800-96992200	Weak transcription	HSMMtube	muscle
12	chr10:96990800-96992400	Weak transcription	Aorta	Aorta
13	chr10:96990800-96992400	Weak transcription	NHLF	lung
14	chr10:96990800-96992600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:96990800-96993000	Weak transcription	NHDF-Ad	bronchial
16	chr10:96990800-96993200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr10:96990800-96994600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:96990800-96994800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr10:96990800-96995200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr10:96990800-96997400	Weak transcription	Stomach Mucosa	stomach
21	chr10:96990800-97005200	Weak transcription	Psoas Muscle	Psoas
22	chr10:96991000-96991600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:96991000-96991600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr10:96991000-96991600	Enhancers	GM12878-XiMat	blood
25	chr10:96991000-96992000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:96991000-96992000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:96991000-96992000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:96991000-96992000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr10:96991000-96992200	Weak transcription	Liver	Liver
30	chr10:96991000-96992200	Weak transcription	HSMM	muscle
31	chr10:96991000-96992200	Weak transcription	NHEK	skin
32	chr10:96991000-96992400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr10:96991000-96992400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr10:96991000-96992400	Weak transcription	Adipose Nuclei	Adipose
35	chr10:96991000-96992400	Weak transcription	Esophagus	oesophagus
36	chr10:96991000-96992400	Weak transcription	Fetal Intestine Small	intestine
37	chr10:96991000-96992400	Weak transcription	Fetal Stomach	stomach
38	chr10:96991000-96992400	Weak transcription	Left Ventricle	heart
39	chr10:96991000-96992400	Weak transcription	Lung	lung
40	chr10:96991000-96992400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr10:96991000-96992400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr10:96991000-96992400	Weak transcription	Spleen	Spleen
43	chr10:96991000-96992400	Weak transcription	A549	lung
44	chr10:96991000-96992400	Weak transcription	HMEC	breast
45	chr10:96991000-96992600	Weak transcription	Primary B cells from cord blood	blood
46	chr10:96991000-96992600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:96991000-96992600	Weak transcription	Fetal Intestine Large	intestine
48	chr10:96991000-96992600	Weak transcription	NH-A	brain
49	chr10:96991000-96992800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr10:96991000-96992800	Weak transcription	Osteobl	bone

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