Variant report

Variant	rs7585851
Chromosome Location	chr2:189166967-189166968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189154812..189157871-chr2:189165748..189168050,3	MCF-7	breast:
2	chr2:189161236..189163223-chr2:189166744..189169461,3	K562	blood:
3	chr2:189147369..189150178-chr2:189166484..189168469,2	K562	blood:

Variant related genes	Relation type
ENSG00000207951	Chromatin interaction
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10460383	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10931347	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931350	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11687797	0.80[ASN][1000 genomes]
rs11688935	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11901438	0.80[ASN][1000 genomes]
rs12105671	0.84[ASN][1000 genomes]
rs12613370	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12613686	0.80[ASN][1000 genomes]
rs12619948	0.92[ASN][1000 genomes]
rs12693496	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13014162	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4233800	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4278900	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4292061	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4353610	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4353611	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4446047	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4505490	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55901476	0.80[ASN][1000 genomes]
rs62179648	0.80[ASN][1000 genomes]
rs62179650	0.80[ASN][1000 genomes]
rs6434274	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6434275	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6434276	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6434279	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6711599	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6716852	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6727073	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72905541	0.84[ASN][1000 genomes]
rs72905544	0.84[ASN][1000 genomes]
rs72905553	0.84[ASN][1000 genomes]
rs72905582	0.92[ASN][1000 genomes]
rs72905599	0.92[ASN][1000 genomes]
rs72907662	0.84[ASN][1000 genomes]
rs7419883	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7557622	0.80[ASN][1000 genomes]
rs7559636	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7575702	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7577484	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];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:36 , 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	chr2:189161200-189167400	Weak transcription	Placenta	Placenta
11	chr2:189161400-189167400	Weak transcription	HUVEC	blood vessel
12	chr2:189162400-189170000	Weak transcription	Aorta	Aorta
13	chr2:189163800-189167200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:189164000-189169200	Weak transcription	Pancreas	Pancrea
15	chr2:189164400-189167800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:189164600-189167600	Weak transcription	A549	lung
17	chr2:189164600-189178200	Weak transcription	Fetal Lung	lung
18	chr2:189164600-189178600	Weak transcription	Esophagus	oesophagus
19	chr2:189164800-189167400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:189164800-189167400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:189164800-189168800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:189165000-189170600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:189165400-189167400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:189165400-189168000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:189165600-189170200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:189166000-189168200	Weak transcription	NHEK	skin
27	chr2:189166200-189167400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:189166200-189167800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:189166400-189167400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:189166600-189167400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:189166600-189167400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:189166600-189168000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:189166600-189168000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:189166800-189167200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:189166800-189167200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:189166800-189167600	Enhancers	HUES48 Cell Line	embryonic stem cell

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