Variant report

Variant	rs12734011
Chromosome Location	chr1:151558017-151558018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151511523..151514176-chr1:151553602..151559967,11	MCF-7	breast:
2	1:151478607-151483211..1:151554759-151560153	Hela-S3	cervix:
3	chr1:151556789..151559689-chr1:151565337..151567125,2	MCF-7	breast:
4	chr1:151555489..151558097-chr1:151879196..151882038,2	MCF-7	breast:
5	1:151496437-151509688..1:151554759-151560153	Hela-S3	cervix:
6	chr1:151518179..151521710-chr1:151554495..151558712,6	MCF-7	breast:
7	chr1:151549985..151552778-chr1:151557616..151559684,2	MCF-7	breast:
8	1:151554759-151560153..1:151618750-151636526	Hela-S3	cervix:
9	1:151411623-151426875..1:151554759-151560153	Hela-S3	cervix:
10	chr1:151539929..151545457-chr1:151553538..151558687,9	MCF-7	breast:
11	chr1:151557809..151559353-chr1:151811315..151813614,2	MCF-7	breast:
12	chr1:151556628..151559025-chr1:151567592..151570969,4	MCF-7	breast:
13	1:151516085-151535167..1:151554759-151560153	Hela-S3	cervix:
14	chr1:151512630..151515300-chr1:151556777..151558528,2	MCF-7	breast:
15	chr1:151553312..151555156-chr1:151556818..151558508,3	MCF-7	breast:
16	chr1:151546253..151548190-chr1:151557087..151559275,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232536	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000223861	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000225556	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10218788	0.99[EUR][1000 genomes]
rs10494267	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11807809	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12090862	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12564097	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12723898	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12734511	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12747024	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12747990	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12751350	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1539490	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1891592	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1935886	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34180474	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34690266	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3748608	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3748609	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3748610	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4970919	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587605	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675022	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6679183	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6691958	0.93[EUR][1000 genomes]
rs6698282	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6704177	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7554707	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[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	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151521800-151559000	Weak transcription	Small Intestine	intestine
2	chr1:151533800-151561600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:151535800-151561800	Weak transcription	Brain Substantia Nigra	brain
4	chr1:151537400-151558400	Weak transcription	Fetal Kidney	kidney
5	chr1:151548800-151558200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:151550400-151559800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:151552400-151558200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:151552600-151559800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:151553800-151558200	Weak transcription	NHLF	lung
10	chr1:151554400-151560000	Weak transcription	Fetal Brain Female	brain
11	chr1:151554800-151559200	Weak transcription	HepG2	liver
12	chr1:151554800-151559800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:151554800-151560000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:151554800-151566200	Weak transcription	Ovary	ovary
15	chr1:151555000-151558400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:151555000-151558800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:151555000-151560200	Enhancers	Placenta	Placenta
18	chr1:151555000-151568800	Weak transcription	Liver	Liver
19	chr1:151555200-151559800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:151555200-151559800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:151555400-151580800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:151555600-151566600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:151556000-151558600	Enhancers	Adipose Nuclei	Adipose
24	chr1:151556000-151558800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:151556200-151558800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:151556200-151559000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:151556200-151559400	Enhancers	HMEC	breast
28	chr1:151556400-151559800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:151556400-151569200	Weak transcription	Pancreas	Pancrea
30	chr1:151556600-151558600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:151556600-151558800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr1:151556600-151559200	Enhancers	Stomach Mucosa	stomach
33	chr1:151556600-151559600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:151556600-151560000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:151556600-151566600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:151556800-151558400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:151556800-151558400	Enhancers	Fetal Muscle Trunk	muscle
38	chr1:151556800-151559000	Weak transcription	Osteobl	bone
39	chr1:151556800-151560000	Enhancers	Fetal Muscle Leg	muscle
40	chr1:151557000-151558200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:151557000-151558600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:151557000-151558800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:151557000-151559800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:151557000-151566400	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:151557200-151558200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:151557200-151558400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:151557200-151558600	Weak transcription	Psoas Muscle	Psoas
48	chr1:151557200-151559400	Enhancers	A549	lung
49	chr1:151557200-151560800	Weak transcription	Brain Germinal Matrix	brain
50	chr1:151557400-151559400	Enhancers	Fetal Intestine Large	intestine

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