Variant report

Variant	rs5003527
Chromosome Location	chr12:10370910-10370911
allele	C/G
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	chr12:10370545-10371000	Hela-S3	cervix:	n/a	n/a
2	JUND	chr12:10370731-10371001	K562	blood:	n/a	chr12:10370883-10370890 chr12:10370842-10370851
3	POLR2A	chr12:10370013-10370921	A549	lung:	n/a	n/a
4	MYC	chr12:10370755-10370921	K562	blood:	n/a	n/a
5	POLR2A	chr12:10364689-10371257	IMR90	lung:	n/a	n/a
6	RCOR1	chr12:10370710-10370987	K562	blood:	n/a	n/a
7	POLR2A	chr12:10370412-10370931	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLR1-3	chr12:10370462-10371046	ENSG00000245856.3

Variant related genes	Relation type
ENSG00000255958	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58421114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264776	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264778	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264786	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10366800-10371000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:10366800-10372600	Weak transcription	Gastric	stomach
3	chr12:10366800-10373000	Weak transcription	Esophagus	oesophagus
4	chr12:10366800-10386600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:10367000-10371800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:10367000-10372400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:10367400-10371200	Weak transcription	Thymus	Thymus
8	chr12:10367400-10371800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:10367800-10374000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:10367800-10374400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:10367800-10374400	Weak transcription	HepG2	liver
12	chr12:10368000-10371600	Weak transcription	Lung	lung
13	chr12:10368000-10372200	Weak transcription	Pancreas	Pancrea
14	chr12:10368000-10372200	Weak transcription	Spleen	Spleen
15	chr12:10368000-10372400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:10368000-10372400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:10368000-10372400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:10368000-10372400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:10368000-10372600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:10368000-10373000	Weak transcription	HSMM	muscle
21	chr12:10368000-10374200	Weak transcription	NHDF-Ad	bronchial
22	chr12:10368000-10374400	Weak transcription	Small Intestine	intestine
23	chr12:10368000-10375400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:10368200-10371200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:10368200-10371200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:10368200-10371800	Weak transcription	Fetal Brain Female	brain
27	chr12:10368200-10371800	Weak transcription	HSMMtube	muscle
28	chr12:10368200-10372400	Weak transcription	Osteobl	bone
29	chr12:10368200-10372600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:10368200-10372600	Weak transcription	Colonic Mucosa	Colon
31	chr12:10368200-10373200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr12:10368400-10371200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:10368400-10371400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:10368400-10371400	Weak transcription	Ovary	ovary
35	chr12:10368400-10371600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:10368400-10371600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:10368400-10371600	Weak transcription	HUVEC	blood vessel
38	chr12:10368400-10371800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:10368400-10371800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:10368400-10371800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:10368400-10371800	Weak transcription	Brain Germinal Matrix	brain
42	chr12:10368400-10371800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:10368400-10372000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:10368400-10372200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:10368400-10372400	Weak transcription	Primary T cells from cord blood	blood
46	chr12:10368400-10372400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:10368400-10372400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:10368400-10372400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:10368400-10372400	Weak transcription	Fetal Lung	lung
50	chr12:10368400-10372600	Weak transcription	Primary hematopoietic stem cells	blood

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