Variant report

Variant	rs74097040
Chromosome Location	chr12:63244705-63244706
allele	A/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	chr12:63244537-63244713	GM12891	blood:	n/a	n/a
2	HEY1	chr12:63244523-63244711	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:63244521-63244709	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:63244472-63244734	GM12892	blood:	n/a	n/a
5	POLR2A	chr12:63244496-63244731	GM12892	blood:	n/a	n/a
6	TCF3	chr12:63244534-63244717	GM12878	blood:	n/a	n/a
7	POU2F2	chr12:63244507-63244738	GM12878	blood:	n/a	n/a
8	HEY1	chr12:63244441-63244850	K562	blood:	n/a	n/a
9	POLR2A	chr12:63244447-63244734	GM12891	blood:	n/a	n/a
10	HEY1	chr12:63244506-63244725	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:63244490-63244872	GM12892	blood:	n/a	n/a
12	HEY1	chr12:63244542-63244707	K562	blood:	n/a	n/a
13	POLR2A	chr12:63244430-63244750	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:63244506-63244728	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr12:63244462-63244837	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr12:63244530-63244735	GM12891	blood:	n/a	n/a
17	POLR2A	chr12:63244531-63244716	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr12:63244433-63244754	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63244647..63247922-chr12:63326690..63328475,3	MCF-7	breast:

Variant related genes	Relation type
RNU1-83P	TF binding region
ENSG00000111110	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12099667	1.00[EUR][1000 genomes]
rs163681	1.00[EUR][1000 genomes]
rs60154663	1.00[EUR][1000 genomes]
rs699594	1.00[EUR][1000 genomes]
rs73310429	1.00[EUR][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	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63239400-63260200	Weak transcription	Fetal Intestine Small	intestine
2	chr12:63239600-63244800	Weak transcription	Fetal Intestine Large	intestine
3	chr12:63241000-63247400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:63241000-63247600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:63241000-63252200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:63241000-63252200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:63241000-63252800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:63241200-63246200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:63241200-63250800	Weak transcription	Adipose Nuclei	Adipose
10	chr12:63241200-63254600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:63242000-63252200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:63242400-63260200	Weak transcription	Fetal Heart	heart
13	chr12:63242600-63246400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:63242600-63247400	Weak transcription	Brain Substantia Nigra	brain
15	chr12:63242600-63247600	Weak transcription	Brain Anterior Caudate	brain
16	chr12:63242600-63247600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:63242600-63249000	Weak transcription	HepG2	liver
18	chr12:63242800-63245600	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:63242800-63246400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:63242800-63247400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:63242800-63247400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:63243000-63253000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:63243200-63246400	Weak transcription	Brain Angular Gyrus	brain
24	chr12:63243400-63247800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:63243600-63247800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:63243600-63252200	Weak transcription	A549	lung
27	chr12:63243800-63252200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:63244600-63245200	Enhancers	Duodenum Mucosa	Duodenum

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