Variant report

Variant	rs73310406
Chromosome Location	chr12:63043514-63043515
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	chr12:63043400-63043530	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:62994712..62998388-chr12:63040223..63045301,6	K562	blood:
2	chr12:63041505..63044112-chr12:63048353..63051271,2	K562	blood:
3	chr12:62996006..62999301-chr12:63039821..63044054,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238475	TF binding region
ENSG00000257354	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000199179	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11835000	1.00[EUR][1000 genomes]
rs163681	1.00[EUR][1000 genomes]
rs73310429	1.00[EUR][1000 genomes]
rs73323250	1.00[EUR][1000 genomes]
rs73323292	1.00[EUR][1000 genomes]
rs73323300	1.00[EUR][1000 genomes]
rs73325240	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	nsv741	chr12:63038255-63064846	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63026600-63049800	Weak transcription	Right Atrium	heart
2	chr12:63031800-63047000	Weak transcription	Liver	Liver
3	chr12:63035000-63048000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:63035200-63048400	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:63035200-63069800	Weak transcription	Left Ventricle	heart
6	chr12:63035600-63044200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:63036400-63044000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:63037200-63050800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:63037200-63069600	Weak transcription	Fetal Intestine Large	intestine
10	chr12:63039200-63070000	Weak transcription	Pancreas	Pancrea
11	chr12:63041400-63049800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:63041600-63043600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:63041600-63047600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:63041600-63047600	Weak transcription	Lung	lung
15	chr12:63041600-63049400	Weak transcription	Brain Angular Gyrus	brain
16	chr12:63041600-63049800	Weak transcription	Fetal Stomach	stomach
17	chr12:63041600-63053600	Weak transcription	Osteobl	bone
18	chr12:63041800-63048600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:63042000-63047000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:63042000-63047200	Weak transcription	Adipose Nuclei	Adipose
21	chr12:63042000-63047400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:63042000-63047400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:63042000-63049600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:63042200-63050400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:63042400-63043600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:63042400-63047400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:63042400-63047800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:63042400-63048000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:63042400-63048600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:63042400-63049200	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:63042400-63049400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:63042400-63049400	Weak transcription	Ovary	ovary
33	chr12:63042600-63044200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:63042600-63045000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:63042600-63046000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:63042600-63047600	Weak transcription	Fetal Intestine Small	intestine
37	chr12:63042600-63047800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:63042600-63048200	Weak transcription	Gastric	stomach
39	chr12:63042800-63048200	Weak transcription	Thymus	Thymus
40	chr12:63043200-63043600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:63043200-63043800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:63043200-63043800	Enhancers	A549	lung
43	chr12:63043200-63047600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:63043400-63043600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr12:63043400-63044400	Enhancers	Fetal Kidney	kidney
46	chr12:63043400-63048200	Weak transcription	HepG2	liver

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