Variant report

Variant	rs72905599
Chromosome Location	chr2:189170131-189170132
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	chr2:189163618..189166579-chr2:189169104..189171149,2	K562	blood:
2	chr2:189168624..189170839-chr2:189170843..189173711,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10931347	1.00[ASN][1000 genomes]
rs10931350	0.91[ASN][1000 genomes]
rs11687797	0.87[ASN][1000 genomes]
rs11688935	1.00[ASN][1000 genomes]
rs11901438	0.87[ASN][1000 genomes]
rs12105671	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12613686	0.87[ASN][1000 genomes]
rs12619948	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693496	0.91[ASN][1000 genomes]
rs34711211	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35409022	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4233800	1.00[ASN][1000 genomes]
rs4353610	1.00[ASN][1000 genomes]
rs4353611	1.00[ASN][1000 genomes]
rs4446047	0.91[ASN][1000 genomes]
rs4505490	1.00[ASN][1000 genomes]
rs55901476	0.87[ASN][1000 genomes]
rs56110119	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62179648	0.87[ASN][1000 genomes]
rs62179650	0.87[ASN][1000 genomes]
rs6434274	1.00[ASN][1000 genomes]
rs6434275	1.00[ASN][1000 genomes]
rs6434276	1.00[ASN][1000 genomes]
rs67050668	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6727073	1.00[ASN][1000 genomes]
rs72905541	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72905544	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72905553	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72905582	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907662	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7419883	1.00[ASN][1000 genomes]
rs7557622	0.87[ASN][1000 genomes]
rs7575702	1.00[ASN][1000 genomes]
rs7577484	1.00[ASN][1000 genomes]
rs7585851	0.92[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	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189159200-189171200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:189160000-189172800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:189160400-189171000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:189164600-189178200	Weak transcription	Fetal Lung	lung
5	chr2:189164600-189178600	Weak transcription	Esophagus	oesophagus
6	chr2:189165000-189170600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:189165600-189170200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:189167200-189170600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:189167200-189171600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:189167400-189172000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:189167600-189170200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:189168000-189170200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:189168000-189170800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:189168000-189172000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:189168200-189172400	Weak transcription	Psoas Muscle	Psoas
16	chr2:189168200-189183200	Weak transcription	Ovary	ovary
17	chr2:189168400-189171200	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:189168400-189173200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:189168600-189172400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:189168600-189172600	Weak transcription	HMEC	breast
21	chr2:189168800-189170400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:189168800-189170600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:189168800-189172400	Weak transcription	NHEK	skin
24	chr2:189168800-189183200	Weak transcription	A549	lung
25	chr2:189169000-189170200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:189169000-189170400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:189169000-189170600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:189169000-189171200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:189169000-189173600	Enhancers	HUVEC	blood vessel
30	chr2:189169200-189170200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:189169200-189170600	Enhancers	Gastric	stomach
32	chr2:189169200-189171400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:189169200-189171400	Enhancers	Placenta	Placenta
34	chr2:189169200-189172600	Weak transcription	Osteobl	bone
35	chr2:189169400-189170600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:189169400-189171000	Weak transcription	HSMM	muscle
37	chr2:189169400-189171200	Weak transcription	NH-A	brain
38	chr2:189169400-189173600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:189169400-189173600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:189169400-189187200	Weak transcription	NHLF	lung
41	chr2:189169600-189173400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:189169800-189170200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr2:189169800-189171000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:189169800-189171600	Weak transcription	NHDF-Ad	bronchial
45	chr2:189170000-189170200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr2:189170000-189170200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:189170000-189170200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr2:189170000-189170200	Enhancers	Aorta	Aorta
49	chr2:189170000-189170800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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