Variant report

Variant	rs73275021
Chromosome Location	chr12:45666327-45666328
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45651078..45653122-chr12:45664303..45667103,2	MCF-7	breast:
2	chr12:45661937..45664338-chr12:45665875..45667704,2	K562	blood:
3	chr12:45662725..45665440-chr12:45666168..45668980,3	K562	blood:
4	chr12:45666061..45668548-chr12:45671361..45673556,2	K562	blood:
5	chr12:45666236..45669203-chr12:45679829..45682427,2	MCF-7	breast:
6	chr12:45664849..45667517-chr12:45676358..45678667,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs57266792	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57314223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57732899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59569841	1.00[AMR][1000 genomes]
rs60840825	1.00[AMR][1000 genomes]
rs73275006	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275009	1.00[AMR][1000 genomes]
rs73279279	1.00[AMR][1000 genomes]
rs73279288	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279290	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279302	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279680	1.00[AMR][1000 genomes]
rs73279683	1.00[AMR][1000 genomes]
rs73281306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281407	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281412	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281425	1.00[AMR][1000 genomes]
rs73281431	1.00[AMR][1000 genomes]
rs73281450	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281453	1.00[AMR][1000 genomes]
rs73281454	1.00[AMR][1000 genomes]
rs73293360	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293363	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293377	0.96[AFR][1000 genomes];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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45651400-45675600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:45651600-45667000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr12:45651600-45667400	Weak transcription	Brain Substantia Nigra	brain
4	chr12:45651600-45674000	Weak transcription	Primary B cells from cord blood	blood
5	chr12:45654200-45666800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:45654400-45666600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:45654400-45667600	Weak transcription	Primary T cells from cord blood	blood
8	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:45662800-45667400	Weak transcription	Spleen	Spleen
10	chr12:45662800-45667600	Weak transcription	Esophagus	oesophagus
11	chr12:45662800-45677400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:45662800-45685400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:45662800-45696800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:45663000-45666800	Weak transcription	Small Intestine	intestine
15	chr12:45663000-45667200	Weak transcription	Right Ventricle	heart
16	chr12:45663000-45667200	Weak transcription	K562	blood
17	chr12:45663000-45667400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:45663000-45667400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:45663000-45667400	Weak transcription	Placenta	Placenta
20	chr12:45663000-45667400	Weak transcription	Left Ventricle	heart
21	chr12:45663000-45667600	Weak transcription	Gastric	stomach
22	chr12:45663000-45667800	Weak transcription	Pancreas	Pancrea
23	chr12:45663000-45668200	Enhancers	Adipose Nuclei	Adipose
24	chr12:45663000-45670000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:45663000-45677400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:45663000-45677600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:45663000-45678200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:45663200-45667200	Weak transcription	Stomach Mucosa	stomach
29	chr12:45663200-45674000	Weak transcription	Dnd41	blood
30	chr12:45663200-45678400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:45663400-45667400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:45663400-45667400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:45663400-45667400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:45663400-45672200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:45663400-45677400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:45663400-45677400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:45663400-45680400	Weak transcription	GM12878-XiMat	blood
38	chr12:45663600-45666600	Weak transcription	Osteobl	bone
39	chr12:45663600-45666800	Weak transcription	NHLF	lung
40	chr12:45663600-45667000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:45663600-45667200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:45663600-45667200	Weak transcription	Fetal Lung	lung
43	chr12:45663600-45674400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:45663600-45677000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:45663800-45666600	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:45663800-45666800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:45664000-45666400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:45664000-45666600	Weak transcription	HSMM	muscle
49	chr12:45664000-45666800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:45664000-45666800	Weak transcription	NH-A	brain

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