Variant report

Variant	rs72905582
Chromosome Location	chr2:189164180-189164181
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	chr2:189157681..189159494-chr2:189162984..189164985,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

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	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12613686	0.87[ASN][1000 genomes]
rs12619948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693496	0.91[ASN][1000 genomes]
rs34711211	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35409022	0.94[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	0.87[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	0.94[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	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72905599	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907662	0.90[AFR][1000 genomes];0.92[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189159000-189168000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:189159000-189168000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:189159200-189168000	Weak transcription	Psoas Muscle	Psoas
4	chr2:189159200-189171200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:189160000-189172800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:189160200-189167800	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:189160200-189168200	Weak transcription	HMEC	breast
8	chr2:189160400-189171000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:189161000-189167400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:189161200-189164400	Weak transcription	Fetal Lung	lung
11	chr2:189161200-189167400	Weak transcription	Placenta	Placenta
12	chr2:189161400-189167400	Weak transcription	HUVEC	blood vessel
13	chr2:189161800-189165600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:189162400-189170000	Weak transcription	Aorta	Aorta
15	chr2:189163200-189164600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:189163400-189164800	Enhancers	Stomach Mucosa	stomach
17	chr2:189163400-189165000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:189163600-189165000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:189163800-189164200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:189163800-189164200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:189163800-189164400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:189163800-189164400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:189163800-189164400	Weak transcription	Esophagus	oesophagus
24	chr2:189163800-189165400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:189163800-189165600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:189163800-189165800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:189163800-189167200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:189164000-189164200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
29	chr2:189164000-189164200	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr2:189164000-189164200	Weak transcription	Lung	lung
31	chr2:189164000-189164400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:189164000-189164600	Enhancers	A549	lung
33	chr2:189164000-189165800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:189164000-189169200	Weak transcription	Pancreas	Pancrea

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