Variant report

Variant	rs34401616
Chromosome Location	chr12:10325225-10325226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:10324503-10325484	Hela-S3	cervix:	n/a	n/a
2	FOS	chr12:10324532-10325315	MCF10A-Er-Src	breast:	n/a	chr12:10324789-10324797 chr12:10324789-10324796
3	BRCA1	chr12:10324530-10325456	Hela-S3	cervix:	n/a	n/a
4	FOS	chr12:10324520-10325247	MCF10A-Er-Src	breast:	n/a	chr12:10324789-10324797 chr12:10324789-10324796
5	PRDM1	chr12:10324518-10325367	Hela-S3	cervix:	n/a	chr12:10324875-10324890
6	MYC	chr12:10324663-10325241	MCF10A-Er-Src	breast:	n/a	chr12:10324844-10324853
7	CEBPB	chr12:10324478-10325407	Hela-S3	cervix:	n/a	n/a
8	TCF7L2	chr12:10324549-10325338	Hela-S3	cervix:	n/a	n/a
9	JUND	chr12:10324486-10325414	Hela-S3	cervix:	n/a	chr12:10324789-10324797 chr12:10324789-10324796
10	TBP	chr12:10324388-10325503	Hela-S3	cervix:	n/a	n/a
11	RCOR1	chr12:10324235-10325261	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr12:10321554-10325230	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr12:10325208-10325358	Hela-S3	cervix:	n/a	n/a
14	TCF7L2	chr12:10324752-10325336	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:10325221-10325271	NT2-D1	testis:	n/a
2	chr12:10325221-10325271	IMR90	lung:	fetal
3	chr12:10325221-10325271	HCPEpiC	choroid plexus:	n/a
4	chr12:10325221-10325271	RPTEC	kidney:	n/a
5	chr12:10325221-10325271	HepG2	liver:	n/a
6	chr12:10325221-10325271	GM12891	blood:	n/a
7	chr12:10325221-10325271	AG10803	skin:	n/a
8	chr12:10325221-10325271	HNPCEpiC	eye:	n/a
9	chr12:10325221-10325271	GM06990	blood:	n/a
10	chr12:10325221-10325271	AG09319	gingival:	n/a
11	chr12:10325221-10325271	HRE	kidney:	n/a
12	chr12:10325221-10325271	Caco-2	colon:	n/a
13	chr12:10325221-10325271	HRCEpiC	kidney:	n/a
14	chr12:10325221-10325271	SK-N-SH	brain:	n/a
15	chr12:10325221-10325271	GM12892	blood:	n/a
16	chr12:10325221-10325271	CMK	blood:	n/a
17	chr12:10325221-10325271	HL-60	blood:	n/a
18	chr12:10325221-10325271	H1-hESC	embryonic stem cell:	embryo
19	chr12:10325221-10325271	ovcar-3	ovarian:	n/a
20	chr12:10325221-10325271	HEEpiC	esophagus:	n/a
21	chr12:10325221-10325271	LNCaP	prostate:	n/a
22	chr12:10325221-10325271	Jurkat	blood:	n/a
23	chr12:10325221-10325271	HEK293	kidney:	embryo
24	chr12:10325221-10325271	HUVEC	blood vessel:	n/a
25	chr12:10325221-10325271	PrEC	prostate:	n/a
26	chr12:10325221-10325271	PANC-1	pancreas:	n/a
27	chr12:10325221-10325271	U87	brain:	n/a
28	chr12:10325221-10325271	SAEC	small airway:	n/a
29	chr12:10325221-10325271	BJ	skin:	n/a
30	chr12:10325221-10325271	SKMC	muscle:	n/a
31	chr12:10325221-10325271	AG04450	lung:	fetal
32	chr12:10325221-10325271	HIPEpiC	eye:	n/a
33	chr12:10325221-10325271	BE2_C	brain:	n/a
34	chr12:10325221-10325271	HCM	heart:	n/a
35	chr12:10325221-10325271	K562	blood:	n/a
36	chr12:10325221-10325271	MCF10A-Er-Src	breast:	n/a
37	chr12:10325221-10325271	HAEpiC	amniotic membrane:	n/a
38	chr12:10325221-10325271	AoSMC	blood vessel:	n/a
39	chr12:10325221-10325271	PFSK-1	brain:	n/a
40	chr12:10325221-10325271	T-47D	breast:	n/a
41	chr12:10325221-10325271	GM19239	blood:	n/a
42	chr12:10325221-10325271	MCF-7	breast:	n/a
43	chr12:10325221-10325271	GM12878	blood:	n/a
44	chr12:10325221-10325271	SK-N-SH_RA	brain:	n/a
45	chr12:10325221-10325271	NB4	blood:	n/a
46	chr12:10325221-10325271	AG04449	skin:	fetal
47	chr12:10325221-10325271	Hela-S3	cervix:	n/a
48	chr12:10325221-10325271	SK-N-MC	brain:	n/a
49	chr12:10325221-10325271	NHBE	bronchial:	n/a
50	chr12:10325221-10325271	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
OLR1	TF binding region
OLR1	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11838090	1.00[AMR][1000 genomes]
rs35775301	1.00[AMR][1000 genomes]
rs55963190	1.00[AMR][1000 genomes]
rs57041498	1.00[AMR][1000 genomes]
rs57989020	1.00[AMR][1000 genomes]
rs60220961	1.00[AMR][1000 genomes]
rs73251088	1.00[AMR][1000 genomes]
rs73252885	1.00[AMR][1000 genomes]
rs73262640	1.00[AMR][1000 genomes]
rs73262645	1.00[AMR][1000 genomes]
rs73262654	1.00[AMR][1000 genomes]
rs73262700	1.00[AMR][1000 genomes]
rs73264786	1.00[AMR][1000 genomes]
rs73266605	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10319200-10326200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr12:10321800-10331200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:10322000-10327600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:10322800-10325400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:10323000-10327200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:10323400-10325400	Flanking Active TSS	Hela-S3	cervix
7	chr12:10323400-10327400	Weak transcription	HMEC	breast
8	chr12:10323400-10327400	Weak transcription	NHEK	skin
9	chr12:10324400-10325400	Enhancers	A549	lung
10	chr12:10324800-10325400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr12:10324800-10325400	Enhancers	NHLF	lung
12	chr12:10325000-10325600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:10325200-10327800	Weak transcription	Placenta	Placenta
14	chr12:10325200-10328400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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