Variant report

Variant	rs73388527
Chromosome Location	chr12:106680621-106680622
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr12:106680474-106680936	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr12:106680603-106681163	Hela-S3	cervix:	n/a	n/a
3	GTF3C2	chr12:106680366-106681344	Hela-S3	cervix:	n/a	n/a
4	FOS	chr12:106680549-106680755	MCF10A-Er-Src	breast:	n/a	n/a
5	RPC155	chr12:106680020-106681162	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106638556..106642995-chr12:106679966..106686733,8	MCF-7	breast:
2	chr12:106679605..106682241-chr12:106684127..106685839,2	K562	blood:
3	chr12:106676469..106679734-chr12:106680347..106683277,4	MCF-7	breast:
4	chr12:106675049..106678623-chr12:106679950..106682858,3	K562	blood:
5	chr12:106532573..106534349-chr12:106680398..106683180,2	MCF-7	breast:
6	chr12:106680059..106682241-chr12:106684339..106687312,2	K562	blood:
7	chr12:106679091..106681654-chr12:106715669..106717926,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU7-94P	TF binding region
ENSG00000238609	Chromatin interaction
ENSG00000136026	Chromatin interaction
ENSG00000074590	Chromatin interaction
ENSG00000258355	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73384383	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	esv1794382	chr12:106679812-106699151	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106666200-106680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:106676600-106681000	Weak transcription	Stomach Mucosa	stomach
3	chr12:106677000-106681400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:106677200-106682200	Weak transcription	Fetal Intestine Large	intestine
5	chr12:106677200-106683600	Enhancers	HepG2	liver
6	chr12:106678600-106682800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:106678600-106688800	Weak transcription	Lung	lung
8	chr12:106678800-106681000	Weak transcription	NHEK	skin
9	chr12:106678800-106681400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:106678800-106682600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:106678800-106682600	Weak transcription	HSMMtube	muscle
12	chr12:106679000-106682400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:106679000-106682400	Weak transcription	HUVEC	blood vessel
14	chr12:106679000-106682600	Weak transcription	Esophagus	oesophagus
15	chr12:106679800-106680800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:106680000-106680800	Weak transcription	Left Ventricle	heart
17	chr12:106680000-106681800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:106680000-106682600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:106680000-106695200	Weak transcription	Right Atrium	heart
20	chr12:106680200-106681400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:106680400-106684600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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