Variant report

Variant	rs1399721
Chromosome Location	chr12:45666810-45666811
allele	A/T
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: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1015626	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10437984	0.84[AMR][1000 genomes]
rs10459295	0.89[EUR][1000 genomes]
rs10748412	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10785557	0.81[AMR][1000 genomes]
rs10785561	0.93[AFR][1000 genomes]
rs10785566	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10880762	0.81[AMR][1000 genomes]
rs10880764	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10880765	0.87[EUR][1000 genomes]
rs10880766	0.87[EUR][1000 genomes]
rs10880768	0.89[EUR][1000 genomes]
rs10880771	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182905	0.84[AMR][1000 genomes]
rs11182918	0.81[AMR][1000 genomes]
rs11182938	0.81[AMR][1000 genomes]
rs11182939	0.84[AMR][1000 genomes]
rs11182957	0.87[EUR][1000 genomes]
rs11182961	0.87[EUR][1000 genomes]
rs11182965	0.89[EUR][1000 genomes]
rs11182966	0.89[EUR][1000 genomes]
rs11182969	0.89[EUR][1000 genomes]
rs11182970	0.89[EUR][1000 genomes]
rs11182973	0.84[EUR][1000 genomes]
rs11182974	0.84[EUR][1000 genomes]
rs11614082	0.82[EUR][1000 genomes]
rs11614089	0.89[EUR][1000 genomes]
rs12228399	0.89[EUR][1000 genomes]
rs12230322	0.81[AMR][1000 genomes]
rs12231753	0.81[AMR][1000 genomes]
rs12815577	0.83[ASN][1000 genomes]
rs1913690	0.90[ASN][1000 genomes]
rs1913692	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2012937	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34759896	0.89[EUR][1000 genomes]
rs35032811	0.89[EUR][1000 genomes]
rs35400022	0.84[EUR][1000 genomes]
rs35660715	0.81[AMR][1000 genomes]
rs3759080	0.81[AMR][1000 genomes]
rs4326862	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768085	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4768598	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768601	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768602	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768603	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6582541	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7136368	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7138247	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs728590	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7304481	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7307262	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309615	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7310046	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7487910	0.83[ASN][1000 genomes]
rs7963038	0.81[AMR][1000 genomes]
rs7963057	0.84[AMR][1000 genomes]
rs7965430	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[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	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:91 , 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	chr12:45654400-45667600	Weak transcription	Primary T cells from cord blood	blood
6	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:45662800-45667400	Weak transcription	Spleen	Spleen
8	chr12:45662800-45667600	Weak transcription	Esophagus	oesophagus
9	chr12:45662800-45677400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:45662800-45685400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:45662800-45696800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr12:45663000-45667200	Weak transcription	Right Ventricle	heart
13	chr12:45663000-45667200	Weak transcription	K562	blood
14	chr12:45663000-45667400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:45663000-45667400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:45663000-45667400	Weak transcription	Placenta	Placenta
17	chr12:45663000-45667400	Weak transcription	Left Ventricle	heart
18	chr12:45663000-45667600	Weak transcription	Gastric	stomach
19	chr12:45663000-45667800	Weak transcription	Pancreas	Pancrea
20	chr12:45663000-45668200	Enhancers	Adipose Nuclei	Adipose
21	chr12:45663000-45670000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:45663000-45677400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:45663000-45677600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:45663000-45678200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:45663200-45667200	Weak transcription	Stomach Mucosa	stomach
26	chr12:45663200-45674000	Weak transcription	Dnd41	blood
27	chr12:45663200-45678400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:45663400-45667400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:45663400-45667400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:45663400-45667400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:45663400-45672200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:45663400-45677400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:45663400-45677400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:45663400-45680400	Weak transcription	GM12878-XiMat	blood
35	chr12:45663600-45667000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:45663600-45667200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:45663600-45667200	Weak transcription	Fetal Lung	lung
38	chr12:45663600-45674400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:45663600-45677000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:45664000-45667000	Weak transcription	HSMMtube	muscle
41	chr12:45664000-45667200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:45664000-45667200	Weak transcription	Fetal Heart	heart
43	chr12:45664000-45667600	Weak transcription	Fetal Intestine Small	intestine
44	chr12:45664000-45667800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:45664000-45667800	Weak transcription	Fetal Intestine Large	intestine
46	chr12:45664000-45672200	Weak transcription	Liver	Liver
47	chr12:45664000-45676000	Weak transcription	Fetal Stomach	stomach
48	chr12:45664000-45678400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:45664200-45667800	Weak transcription	Lung	lung
50	chr12:45664200-45669800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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