Variant report

Variant	rs12564097
Chromosome Location	chr1:151539293-151539294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151538923..151541258-chr1:151872642..151874684,2	K562	blood:
2	chr1:151510867..151515069-chr1:151533037..151539348,7	MCF-7	breast:
3	chr1:151534117..151538483-chr1:151538584..151542578,5	MCF-7	breast:
4	chr1:151538431..151540446-chr1:151543775..151547302,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232536	Chromatin interaction
ENSG00000143367	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10218788	0.84[EUR][1000 genomes]
rs10494267	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11807809	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12090862	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12723898	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12734011	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12734511	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12747024	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12747990	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12751350	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1539490	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1891592	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1935886	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34180474	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34690266	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3748608	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3748609	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3748610	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4970919	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6587605	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6675022	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6679183	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6698282	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6704177	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7554707	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151514400-151540800	Weak transcription	Brain Angular Gyrus	brain
2	chr1:151514400-151556800	Weak transcription	Fetal Brain Male	brain
3	chr1:151520600-151542000	Weak transcription	Right Ventricle	heart
4	chr1:151520600-151545200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:151521800-151541800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:151521800-151559000	Weak transcription	Small Intestine	intestine
7	chr1:151522400-151540800	Weak transcription	Stomach Mucosa	stomach
8	chr1:151530200-151540800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:151531800-151542200	Strong transcription	HSMM	muscle
10	chr1:151532000-151542200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:151532200-151546400	Weak transcription	Spleen	Spleen
12	chr1:151532600-151551200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:151533000-151540000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:151533000-151557200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:151533600-151541600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:151533800-151541400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:151533800-151561600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:151534000-151539600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr1:151534200-151542000	Strong transcription	Fetal Intestine Large	intestine
20	chr1:151534200-151542200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:151534200-151542400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:151534200-151549400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:151534200-151550200	Strong transcription	Stomach Smooth Muscle	stomach
24	chr1:151534400-151539600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr1:151534400-151540800	Strong transcription	Fetal Intestine Small	intestine
26	chr1:151535000-151547000	Strong transcription	HSMMtube	muscle
27	chr1:151535200-151541800	Weak transcription	NHDF-Ad	bronchial
28	chr1:151535600-151540000	Strong transcription	Fetal Muscle Leg	muscle
29	chr1:151535600-151547000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:151535800-151539600	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:151535800-151540400	Genic enhancers	NHEK	skin
32	chr1:151535800-151561800	Weak transcription	Brain Substantia Nigra	brain
33	chr1:151536000-151539600	Strong transcription	Hela-S3	cervix
34	chr1:151536000-151544600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:151536000-151546800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:151536000-151547000	Strong transcription	Placenta	Placenta
37	chr1:151536200-151539800	Strong transcription	Pancreas	Pancrea
38	chr1:151536400-151539600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr1:151536400-151540800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:151536400-151546000	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr1:151536600-151539400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:151536600-151539400	Strong transcription	NH-A	brain
43	chr1:151536600-151539600	Strong transcription	Colon Smooth Muscle	Colon
44	chr1:151536600-151539600	Strong transcription	Osteobl	bone
45	chr1:151536600-151540000	Strong transcription	Adipose Nuclei	Adipose
46	chr1:151536600-151540000	Strong transcription	Fetal Stomach	stomach
47	chr1:151536600-151540200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr1:151536800-151539600	Strong transcription	Fetal Brain Female	brain
49	chr1:151536800-151539600	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:151536800-151540000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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