Variant report

Variant	rs12328527
Chromosome Location	chr2:20766764-20766765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20765813..20767349-chr2:20771074..20773656,2	K562	blood:
2	chr2:20765929..20768353-chr2:20769988..20771699,2	MCF-7	breast:
3	chr2:20645080..20652615-chr2:20762107..20769809,15	MCF-7	breast:
4	chr2:20736907..20739656-chr2:20765962..20767930,2	K562	blood:
5	chr2:20763374..20764943-chr2:20765798..20769722,3	K562	blood:
6	chr2:20761650..20763481-chr2:20765348..20767927,2	K562	blood:
7	chr2:20762656..20765559-chr2:20766415..20769350,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228950	Chromatin interaction
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10153731	1.00[AMR][1000 genomes]
rs10190590	1.00[AMR][1000 genomes]
rs10204567	1.00[AMR][1000 genomes]
rs10204809	1.00[AMR][1000 genomes]
rs13406282	1.00[AMR][1000 genomes]
rs13418218	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16987861	1.00[AMR][1000 genomes]
rs28666627	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9808086	0.88[AFR][1000 genomes];1.00[AMR][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	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr2:20751200-20768600	Weak transcription	Aorta	Aorta
2	chr2:20751600-20772600	Weak transcription	Brain Angular Gyrus	brain
3	chr2:20761800-20766800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:20762000-20767000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:20762000-20767400	Weak transcription	Esophagus	oesophagus
6	chr2:20762600-20766800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:20762800-20767000	Weak transcription	Fetal Heart	heart
8	chr2:20763200-20767000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:20763200-20767000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:20763200-20767000	Weak transcription	Right Atrium	heart
11	chr2:20763600-20768600	Weak transcription	Fetal Brain Male	brain
12	chr2:20764000-20767400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:20764000-20767400	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:20764000-20768000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:20764200-20767400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:20764200-20767600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:20764200-20768000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:20764200-20768000	Weak transcription	HMEC	breast
19	chr2:20764200-20768200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:20764200-20768200	Weak transcription	Osteobl	bone
21	chr2:20764200-20768400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:20764400-20778200	Enhancers	HepG2	liver
23	chr2:20764600-20768800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:20764600-20769000	Enhancers	Placenta	Placenta
25	chr2:20764600-20770200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:20764800-20771600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:20765000-20770400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:20765000-20772000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:20765200-20767400	Weak transcription	Lung	lung
30	chr2:20765200-20768400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:20765400-20769400	Enhancers	Fetal Muscle Leg	muscle
32	chr2:20765600-20767800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:20765600-20767800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:20765600-20767800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:20765600-20769600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:20765600-20780800	Enhancers	Adipose Nuclei	Adipose
37	chr2:20765800-20768200	Weak transcription	Spleen	Spleen
38	chr2:20765800-20768600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:20765800-20769000	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:20765800-20773600	Weak transcription	Fetal Thymus	thymus
41	chr2:20765800-20786200	Enhancers	HUVEC	blood vessel
42	chr2:20766000-20767000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:20766000-20767000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:20766000-20767200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:20766000-20767400	Weak transcription	NH-A	brain
46	chr2:20766000-20768400	Weak transcription	NHLF	lung
47	chr2:20766000-20769400	Weak transcription	Fetal Intestine Large	intestine
48	chr2:20766000-20772600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:20766000-20773600	Weak transcription	Fetal Kidney	kidney
50	chr2:20766200-20767200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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