Variant report

Variant	rs1427995
Chromosome Location	chr12:20365563-20365564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:20357490..20359310-chr12:20364032..20366032,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1030460	0.81[AMR][1000 genomes]
rs10734699	0.81[EUR][1000 genomes]
rs4762934	0.81[AMR][1000 genomes]
rs4762935	0.81[AMR][1000 genomes]
rs57311028	0.96[ASN][1000 genomes]
rs60147570	0.92[ASN][1000 genomes]
rs7308275	0.85[EUR][1000 genomes]
rs7312491	0.83[AMR][1000 genomes]
rs74064880	0.96[ASN][1000 genomes]
rs74064881	0.92[ASN][1000 genomes]
rs763488	0.91[AMR][1000 genomes]
rs7970503	0.81[AMR][1000 genomes]
rs7979819	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035141	chr12:20286595-20429040	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv557700	chr12:20346383-20379710	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv898857	chr12:20359670-20423727	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20362200-20367200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:20362600-20365600	Weak transcription	Left Ventricle	heart
3	chr12:20363200-20365600	Enhancers	Primary B cells from cord blood	blood
4	chr12:20363200-20366000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:20363400-20365800	Enhancers	Primary hematopoietic stem cells	blood
6	chr12:20363400-20365800	Enhancers	Hela-S3	cervix
7	chr12:20363800-20366000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:20364000-20366200	Enhancers	Fetal Muscle Leg	muscle
9	chr12:20364000-20366200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr12:20364000-20367800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:20364000-20368000	Enhancers	Fetal Stomach	stomach
12	chr12:20364200-20366400	Enhancers	Fetal Intestine Large	intestine
13	chr12:20364200-20366400	Enhancers	Fetal Intestine Small	intestine
14	chr12:20364200-20366600	Enhancers	Small Intestine	intestine
15	chr12:20364200-20367600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:20364400-20365800	Enhancers	Fetal Brain Male	brain
17	chr12:20364400-20366000	Enhancers	Colon Smooth Muscle	Colon
18	chr12:20364400-20366200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr12:20364400-20366400	Flanking Active TSS	A549	lung
20	chr12:20364400-20366800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:20364400-20367000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:20364600-20365600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:20364600-20365600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:20364600-20365600	Enhancers	Brain Cingulate Gyrus	brain
25	chr12:20364600-20366000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:20364600-20366200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr12:20364600-20366400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr12:20364600-20366400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr12:20364600-20366600	Enhancers	Fetal Brain Female	brain
30	chr12:20364600-20366600	Enhancers	Rectal Smooth Muscle	rectum
31	chr12:20364600-20367600	Enhancers	NHDF-Ad	bronchial
32	chr12:20364600-20368000	Enhancers	Fetal Lung	lung
33	chr12:20364800-20366200	Enhancers	Fetal Kidney	kidney
34	chr12:20364800-20366400	Enhancers	NHLF	lung
35	chr12:20365000-20365800	Active TSS	Brain Anterior Caudate	brain
36	chr12:20365000-20366400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:20365000-20367600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:20365200-20365600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:20365200-20365600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr12:20365200-20365600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr12:20365200-20365800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr12:20365200-20365800	Active TSS	Brain Angular Gyrus	brain
43	chr12:20365200-20366000	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr12:20365200-20366200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:20365200-20366400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr12:20365200-20366400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr12:20365400-20365600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr12:20365400-20365600	Enhancers	Brain Germinal Matrix	brain
49	chr12:20365400-20365600	Enhancers	Duodenum Mucosa	Duodenum
50	chr12:20365400-20365600	Active TSS	Stomach Smooth Muscle	stomach

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