Variant report

Variant	rs2246728
Chromosome Location	chr20:4803445-4803446
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	chr20:4802607..4804133-chr20:4804783..4806934,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1076056	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1104902	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2246735	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2326552	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4141888	0.88[ASN][1000 genomes]
rs4813719	0.91[ASN][1000 genomes]
rs4813720	0.91[ASN][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	esv3373329	chr20:4082756-5007606	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv530448	chr20:4575637-5030917	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv912628	chr20:4751487-4836440	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv912629	chr20:4751487-5183353	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3371699	chr20:4802777-4805325	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:4802200-4804600	Active TSS	Rectal Smooth Muscle	rectum
2	chr20:4802400-4803800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:4802400-4803800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr20:4802400-4805000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr20:4802600-4803600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
6	chr20:4802600-4803800	Flanking Active TSS	HUVEC	blood vessel
7	chr20:4802600-4804400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr20:4802600-4804600	Active TSS	Lung	lung
9	chr20:4802600-4804600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr20:4802600-4804800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr20:4802600-4804800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr20:4802600-4804800	Active TSS	Right Atrium	heart
13	chr20:4802800-4803600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:4802800-4803600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
15	chr20:4802800-4803600	Active TSS	Psoas Muscle	Psoas
16	chr20:4802800-4803800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
17	chr20:4802800-4803800	Flanking Active TSS	Dnd41	blood
18	chr20:4802800-4804200	Flanking Active TSS	Liver	Liver
19	chr20:4802800-4804400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr20:4802800-4804600	Active TSS	Aorta	Aorta
21	chr20:4802800-4804600	Active TSS	Brain Angular Gyrus	brain
22	chr20:4802800-4804600	Active TSS	Brain Substantia Nigra	brain
23	chr20:4802800-4804600	Active TSS	Colon Smooth Muscle	Colon
24	chr20:4802800-4804600	Active TSS	Fetal Brain Female	brain
25	chr20:4802800-4804600	Active TSS	Fetal Kidney	kidney
26	chr20:4802800-4804800	Active TSS	Brain Cingulate Gyrus	brain
27	chr20:4803000-4803600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr20:4803000-4803600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr20:4803000-4803600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr20:4803000-4803600	Flanking Bivalent TSS/Enh	Placenta	Placenta
31	chr20:4803000-4803600	Flanking Active TSS	Right Ventricle	heart
32	chr20:4803000-4803600	Bivalent Enhancer	NH-A	brain
33	chr20:4803000-4803600	Bivalent/Poised TSS	NHLF	lung
34	chr20:4803000-4803800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr20:4803000-4803800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
36	chr20:4803000-4803800	Flanking Active TSS	Esophagus	oesophagus
37	chr20:4803000-4803800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr20:4803000-4803800	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr20:4803000-4804000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr20:4803000-4804000	Flanking Active TSS	Pancreas	Pancrea
41	chr20:4803000-4804200	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr20:4803000-4804400	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr20:4803000-4804400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
44	chr20:4803000-4804400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr20:4803000-4804400	Active TSS	Spleen	Spleen
46	chr20:4803000-4804400	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr20:4803000-4804600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr20:4803000-4804600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr20:4803000-4804600	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr20:4803000-4804600	Active TSS	Primary T cells from cord blood	blood

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