Variant report

Variant	rs73305801
Chromosome Location	chr12:51583369-51583370
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51583245..51586471-chr12:51611180..51613523,3	K562	blood:
2	chr12:51582618..51587161-chr12:51588342..51592612,4	K562	blood:
3	chr12:51474666..51478844-chr12:51578009..51583588,6	MCF-7	breast:
4	chr12:51581609..51583817-chr12:51631242..51632967,2	MCF-7	breast:
5	chr12:51581274..51584144-chr12:51584768..51587377,2	K562	blood:
6	chr12:51573087..51575284-chr12:51583237..51585121,2	K562	blood:

Variant related genes	Relation type
ENSG00000183283	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11169773	1.00[EUR][1000 genomes]
rs55704499	1.00[EUR][1000 genomes]
rs55749225	1.00[EUR][1000 genomes]
rs56168937	1.00[EUR][1000 genomes]
rs56298522	1.00[EUR][1000 genomes]
rs56664350	1.00[EUR][1000 genomes]
rs57515945	1.00[EUR][1000 genomes]
rs58190556	1.00[EUR][1000 genomes]
rs58959803	1.00[EUR][1000 genomes]
rs58974544	1.00[EUR][1000 genomes]
rs59459113	1.00[EUR][1000 genomes]
rs59839052	1.00[EUR][1000 genomes]
rs59898968	1.00[EUR][1000 genomes]
rs60852569	1.00[EUR][1000 genomes]
rs73307705	1.00[EUR][1000 genomes]
rs73307731	1.00[EUR][1000 genomes]
rs73307734	1.00[EUR][1000 genomes]
rs73307737	1.00[EUR][1000 genomes]
rs73307741	1.00[EUR][1000 genomes]
rs73307746	1.00[EUR][1000 genomes]
rs73307750	1.00[EUR][1000 genomes]
rs74091911	1.00[EUR][1000 genomes]
rs74091914	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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51583400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:51567400-51584000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
4	chr12:51574800-51583400	Weak transcription	Aorta	Aorta
5	chr12:51575600-51583600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:51575800-51583600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:51577800-51583400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:51578000-51583400	Weak transcription	Left Ventricle	heart
9	chr12:51578000-51583400	Weak transcription	Ovary	ovary
10	chr12:51578000-51583600	Weak transcription	Pancreas	Pancrea
11	chr12:51578000-51587600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:51578200-51586000	Weak transcription	Fetal Heart	heart
13	chr12:51578200-51596800	Weak transcription	Fetal Lung	lung
14	chr12:51578400-51583800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:51579600-51583600	Enhancers	Fetal Thymus	thymus
16	chr12:51580200-51583400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:51580200-51583400	Weak transcription	Right Ventricle	heart
18	chr12:51580400-51583400	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:51580400-51583600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:51580400-51592000	Weak transcription	Gastric	stomach
21	chr12:51580600-51583400	Weak transcription	Fetal Intestine Small	intestine
22	chr12:51580600-51583800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:51580600-51587800	Weak transcription	Placenta	Placenta
24	chr12:51580600-51595800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:51580800-51583400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:51580800-51596800	Weak transcription	Primary T cells from cord blood	blood
27	chr12:51581000-51583400	Weak transcription	Adipose Nuclei	Adipose
28	chr12:51581000-51583400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:51581000-51593200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:51581200-51583400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:51581200-51583800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:51581400-51583400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:51581400-51583400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:51581400-51583400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:51581400-51583800	Enhancers	HSMMtube	muscle
36	chr12:51581400-51584800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:51581400-51600400	Weak transcription	Psoas Muscle	Psoas
38	chr12:51581400-51610200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:51581600-51583400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:51581600-51583600	Weak transcription	Brain Angular Gyrus	brain
41	chr12:51581600-51585800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:51581600-51586400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:51581600-51587200	Strong transcription	Fetal Brain Female	brain
44	chr12:51581800-51583400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:51581800-51583400	Weak transcription	Fetal Stomach	stomach
46	chr12:51581800-51583800	Weak transcription	Liver	Liver
47	chr12:51581800-51592000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:51581800-51596600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:51581800-51610600	Weak transcription	Colonic Mucosa	Colon
50	chr12:51582000-51583800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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