Variant report

Variant	rs12527053
Chromosome Location	chr6:44383130-44383131
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44356556..44360481-chr6:44380097..44385414,6	K562	blood:
2	chr6:44356394..44359367-chr6:44380277..44384190,3	K562	blood:
3	chr6:44382268..44386801-chr6:44387364..44390498,4	MCF-7	breast:
4	chr6:44371835..44373897-chr6:44382894..44384925,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10948136	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11571946	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11571962	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12527726	0.83[ASN][1000 genomes]
rs12527984	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12528170	0.83[ASN][1000 genomes]
rs12529980	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1999371	0.85[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4711782	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4714781	0.85[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]
rs4714787	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72866289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72867812	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72867824	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9369482	0.81[MEX][hapmap];0.85[AMR][1000 genomes]
rs9381324	1.00[CEU][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];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	nsv1019145	chr6:44313576-44421440	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 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	chr6:44356400-44393800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:44357600-44383200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:44357600-44388200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:44358000-44384800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:44358000-44385600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:44358000-44385600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:44358000-44385800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr6:44358000-44386000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:44358200-44385600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr6:44358400-44385200	Strong transcription	Dnd41	blood
11	chr6:44358400-44386000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:44358400-44403800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:44358800-44385600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr6:44359400-44386000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr6:44366000-44383200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr6:44368000-44385000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:44368400-44386000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:44369400-44385600	Strong transcription	Liver	Liver
19	chr6:44371400-44385600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:44371400-44385600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr6:44371400-44385600	Strong transcription	Fetal Muscle Leg	muscle
22	chr6:44371600-44385600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr6:44371600-44385600	Strong transcription	Fetal Lung	lung
24	chr6:44371600-44385800	Strong transcription	Fetal Intestine Large	intestine
25	chr6:44371600-44386000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:44371800-44385600	Strong transcription	Fetal Brain Female	brain
27	chr6:44373200-44383800	Strong transcription	HepG2	liver
28	chr6:44373200-44385600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:44374600-44388400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr6:44376800-44383600	Weak transcription	Small Intestine	intestine
31	chr6:44376800-44383800	Weak transcription	NHLF	lung
32	chr6:44376800-44384200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:44376800-44398200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr6:44376800-44424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:44377000-44383200	Weak transcription	Right Ventricle	heart
36	chr6:44377000-44384800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:44377600-44384200	Weak transcription	Colonic Mucosa	Colon
38	chr6:44378000-44383200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:44378000-44384000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:44378000-44384200	Weak transcription	HMEC	breast
41	chr6:44378200-44383200	Weak transcription	Psoas Muscle	Psoas
42	chr6:44378200-44383200	Weak transcription	NHDF-Ad	bronchial
43	chr6:44378200-44385600	Strong transcription	Brain Germinal Matrix	brain
44	chr6:44378200-44387800	Weak transcription	Fetal Heart	heart
45	chr6:44378400-44383800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:44378400-44387200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr6:44378600-44384800	Strong transcription	GM12878-XiMat	blood
48	chr6:44379000-44383200	Weak transcription	A549	lung
49	chr6:44379000-44386000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:44379400-44385600	Strong transcription	Placenta	Placenta

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