Variant report

Variant	rs4583039
Chromosome Location	chr12:48338414-48338415
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	BCL3	chr12:48338388-48338885	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
2	chr12:48294459..48300703-chr12:48338090..48345573,18	MCF-7	breast:
3	chr12:48337310..48342034-chr12:48342237..48346016,6	MCF-7	breast:
4	chr12:48337421..48339727-chr12:48348343..48351115,2	MCF-7	breast:

Variant related genes	Relation type
VDR	TF binding region
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1015390	0.93[EUR][1000 genomes]
rs11168324	0.81[ASN][1000 genomes]
rs4073729	0.92[EUR][1000 genomes]
rs4393380	0.89[EUR][1000 genomes];0.87[ASN][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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48332600-48339600	Weak transcription	NHDF-Ad	bronchial
2	chr12:48332800-48340200	Weak transcription	Right Atrium	heart
3	chr12:48333000-48339200	Weak transcription	HSMM	muscle
4	chr12:48335800-48346000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:48336000-48338800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:48336000-48339200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr12:48336200-48340200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:48336200-48340400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:48336600-48339200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr12:48336600-48340200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:48336600-48341200	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr12:48336600-48343200	Weak transcription	Right Ventricle	heart
13	chr12:48336800-48339600	Weak transcription	HSMMtube	muscle
14	chr12:48337200-48340400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:48337600-48339600	Enhancers	Hela-S3	cervix
16	chr12:48337800-48338600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:48337800-48338800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:48337800-48339600	Weak transcription	Fetal Heart	heart
19	chr12:48337800-48340200	Enhancers	Duodenum Mucosa	Duodenum
20	chr12:48337800-48343200	Weak transcription	Pancreas	Pancrea
21	chr12:48338000-48339000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:48338000-48339800	Weak transcription	Fetal Intestine Small	intestine
23	chr12:48338000-48339800	Weak transcription	A549	lung
24	chr12:48338200-48338600	Weak transcription	Spleen	Spleen
25	chr12:48338200-48338800	Enhancers	Colonic Mucosa	Colon
26	chr12:48338200-48340600	Weak transcription	Fetal Intestine Large	intestine
27	chr12:48338400-48339000	Enhancers	Esophagus	oesophagus
28	chr12:48338400-48340600	Enhancers	NHEK	skin
29	chr12:48338400-48342400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:48338400-48348800	Enhancers	HMEC	breast

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