Variant report

Variant	rs73290786
Chromosome Location	chr12:46148420-46148421
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46147919..46149431-chr12:46165409..46167229,2	K562	blood:
2	chr12:46125553..46128426-chr12:46146824..46149219,2	K562	blood:
3	chr12:46134325..46137231-chr12:46148233..46149975,2	K562	blood:
4	chr12:46118046..46122353-chr12:46145108..46149369,4	K562	blood:
5	chr12:46125135..46126997-chr12:46148099..46150790,2	MCF-7	breast:
6	chr12:46138878..46142598-chr12:46145019..46148641,4	K562	blood:
7	chr12:46140311..46142598-chr12:46147141..46148975,2	K562	blood:

Variant related genes	Relation type
ENSG00000273015	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs56884429	1.00[AFR][1000 genomes]
rs57470002	0.83[AFR][1000 genomes]
rs58544881	0.83[AFR][1000 genomes]
rs73290761	0.81[AFR][1000 genomes]
rs73290779	1.00[AFR][1000 genomes]
rs73290789	1.00[AFR][1000 genomes]
rs73290790	1.00[AFR][1000 genomes]
rs73292505	1.00[AFR][1000 genomes]
rs73292506	1.00[AFR][1000 genomes]
rs73292513	1.00[AFR][1000 genomes]
rs73292514	1.00[AFR][1000 genomes]
rs73292526	0.91[AFR][1000 genomes]
rs73292528	1.00[AFR][1000 genomes]
rs73292535	1.00[AFR][1000 genomes]
rs73292551	1.00[AFR][1000 genomes]
rs73292563	0.83[AFR][1000 genomes]
rs73292567	0.83[AFR][1000 genomes]
rs73292573	0.83[AFR][1000 genomes]
rs73292583	0.83[AFR][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	nsv899052	chr12:46068394-46175469	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46125000-46161200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:46125200-46156000	Weak transcription	Small Intestine	intestine
3	chr12:46125400-46152200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:46126400-46149600	Weak transcription	Right Atrium	heart
5	chr12:46126400-46161200	Weak transcription	Aorta	Aorta
6	chr12:46127200-46150400	Weak transcription	NHLF	lung
7	chr12:46127200-46161200	Weak transcription	HMEC	breast
8	chr12:46127400-46153600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:46127400-46154800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:46127400-46156000	Weak transcription	Adipose Nuclei	Adipose
11	chr12:46127800-46149000	Weak transcription	Brain Substantia Nigra	brain
12	chr12:46128200-46164600	Weak transcription	Esophagus	oesophagus
13	chr12:46129200-46156600	Weak transcription	HepG2	liver
14	chr12:46129400-46156000	Weak transcription	Brain Angular Gyrus	brain
15	chr12:46131200-46149200	Weak transcription	Placenta	Placenta
16	chr12:46131200-46149800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:46131200-46160800	Weak transcription	NHEK	skin
18	chr12:46131400-46156200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:46131600-46150600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:46131800-46156000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:46132000-46161800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:46132000-46205200	Weak transcription	HSMM	muscle
23	chr12:46132200-46165000	Weak transcription	Lung	lung
24	chr12:46135400-46155400	Weak transcription	HUVEC	blood vessel
25	chr12:46135600-46150400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:46136200-46148600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:46136400-46150800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:46136400-46159400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:46136600-46157800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:46136800-46150800	Weak transcription	Fetal Lung	lung
31	chr12:46136800-46151000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:46136800-46151200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:46136800-46153200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:46136800-46156200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:46137000-46150400	Weak transcription	Fetal Stomach	stomach
36	chr12:46137200-46150400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:46137200-46156000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:46137400-46149600	Weak transcription	Fetal Intestine Small	intestine
39	chr12:46137400-46150400	Weak transcription	Pancreas	Pancrea
40	chr12:46137400-46160800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:46137400-46163000	Weak transcription	Fetal Intestine Large	intestine
42	chr12:46137400-46174400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:46137600-46161800	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:46138400-46151000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:46139000-46156000	Weak transcription	Liver	Liver
46	chr12:46139800-46150400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:46139800-46151400	Strong transcription	Dnd41	blood
48	chr12:46140200-46148800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:46140200-46155200	Weak transcription	Stomach Mucosa	stomach
50	chr12:46140200-46156000	Weak transcription	Brain Anterior Caudate	brain

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