Variant report

Variant	rs1020848
Chromosome Location	chr12:57063459-57063460
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57062507..57064037-chr12:57065872..57067801,2	K562	blood:
2	chr12:57061605..57064305-chr12:57104811..57107475,3	K562	blood:
3	chr12:57057875..57064396-chr12:57067862..57074098,12	K562	blood:
4	chr12:57029917..57031617-chr12:57061132..57063591,2	MCF-7	breast:
5	chr12:57062442..57065123-chr12:57118386..57120194,2	K562	blood:

Variant related genes	Relation type
ENSG00000196531	Chromatin interaction
ENSG00000076108	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10747769	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783794	0.83[ASN][1000 genomes]
rs10876913	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876914	1.00[ASN][1000 genomes]
rs10876915	1.00[ASN][1000 genomes]
rs10876916	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1107479	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171914	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171916	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171917	1.00[ASN][1000 genomes]
rs11835120	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837319	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12229457	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465081	1.00[ASN][1000 genomes]
rs1563896	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1563897	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1962963	0.88[ASN][1000 genomes]
rs2255074	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2290893	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926740	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2950387	0.93[ASN][1000 genomes]
rs2950388	1.00[ASN][1000 genomes]
rs2950390	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2950393	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2950394	1.00[ASN][1000 genomes]
rs2958123	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2958124	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2958145	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2958146	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2958153	0.91[ASN][1000 genomes]
rs2958154	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2958155	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36012661	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759028	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67046307	1.00[ASN][1000 genomes]
rs7297289	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7303216	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7315472	1.00[ASN][1000 genomes]
rs73337030	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957300	0.80[EUR][1000 genomes]
rs7972420	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7973157	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975783	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7980378	0.94[ASN][1000 genomes]
rs7980835	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs941207	0.94[ASN][1000 genomes]
rs9634246	1.00[ASN][1000 genomes]
rs9634247	0.97[ASN][1000 genomes]
rs9634277	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9989034	0.93[EUR][1000 genomes];0.99[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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57040400-57069400	Weak transcription	Right Atrium	heart
2	chr12:57052400-57078200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:57054200-57064200	Weak transcription	Small Intestine	intestine
4	chr12:57054200-57069600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:57054600-57067000	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr12:57054800-57075800	Strong transcription	Fetal Thymus	thymus
7	chr12:57054800-57076600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:57055200-57064200	Weak transcription	Fetal Heart	heart
9	chr12:57055200-57064400	Strong transcription	Fetal Intestine Large	intestine
10	chr12:57055400-57064000	Weak transcription	Stomach Mucosa	stomach
11	chr12:57055400-57066400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:57055400-57066800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:57055600-57065400	Strong transcription	Stomach Smooth Muscle	stomach
14	chr12:57055600-57066000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:57055600-57066600	Strong transcription	Adipose Nuclei	Adipose
16	chr12:57055600-57067200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:57055600-57068200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:57055600-57077400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:57055800-57064000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr12:57055800-57064400	Strong transcription	Liver	Liver
21	chr12:57055800-57065800	Strong transcription	Primary T cells from cord blood	blood
22	chr12:57055800-57066400	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:57055800-57066600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:57055800-57067000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr12:57056000-57065200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:57056000-57068000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:57056000-57069200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:57056200-57064400	Strong transcription	Left Ventricle	heart
29	chr12:57056200-57065400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr12:57056200-57065600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:57056200-57065800	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:57056200-57066200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:57056200-57067200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:57056400-57064000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr12:57056400-57066600	Strong transcription	Brain Germinal Matrix	brain
36	chr12:57056400-57067200	Strong transcription	Placenta	Placenta
37	chr12:57056400-57068000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:57056400-57068200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:57056400-57068200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr12:57056600-57064400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:57056600-57066200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:57056600-57067000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:57056600-57067000	Strong transcription	NH-A	brain
44	chr12:57056600-57067200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:57056600-57067200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:57056600-57067200	Strong transcription	HUVEC	blood vessel
47	chr12:57056600-57068000	Strong transcription	GM12878-XiMat	blood
48	chr12:57056800-57064000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr12:57056800-57064600	Strong transcription	NHEK	skin
50	chr12:57056800-57065800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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