Variant report

Variant	rs1927141
Chromosome Location	chr9:72800152-72800153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72799962..72802865-chr9:72805921..72808409,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10114223	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511981	0.83[AMR][1000 genomes]
rs10735584	0.87[AMR][1000 genomes]
rs10780875	0.83[AMR][1000 genomes]
rs10780924	1.00[ASN][1000 genomes]
rs10868800	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10868810	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142348	0.86[EUR][1000 genomes]
rs11142364	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142365	1.00[ASN][1000 genomes]
rs11142372	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142375	0.91[EUR][1000 genomes]
rs11142377	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142379	1.00[ASN][1000 genomes]
rs11142380	1.00[ASN][1000 genomes]
rs11142381	1.00[ASN][1000 genomes]
rs11521805	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11795149	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180080	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180084	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180089	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180097	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180100	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180110	1.00[ASN][1000 genomes]
rs1180113	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180119	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180134	0.90[EUR][1000 genomes]
rs1183311	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11999862	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17052678	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1888155	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927094	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927097	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927108	0.87[AMR][1000 genomes]
rs1927109	0.87[AMR][1000 genomes]
rs1927112	0.93[AMR][1000 genomes]
rs1927114	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1927123	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927138	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927140	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927144	0.90[AFR][1000 genomes]
rs1927145	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927146	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927148	0.86[AFR][1000 genomes]
rs1998972	0.83[AMR][1000 genomes]
rs2148854	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148855	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182733	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2209781	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2225128	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309601	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2309637	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309641	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309643	0.85[EUR][1000 genomes]
rs2309645	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309646	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871297	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744587	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744980	0.83[AMR][1000 genomes]
rs4744985	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66524845	0.91[EUR][1000 genomes]
rs66756859	0.86[EUR][1000 genomes]
rs7020575	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7042675	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712293	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712300	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341691	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7848955	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7857325	0.82[AMR][1000 genomes]
rs7865289	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9410662	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943532	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943533	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943535	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943538	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72780600-72801400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr9:72780600-72803600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr9:72783800-72801600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr9:72784600-72802000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:72786400-72800400	Weak transcription	Aorta	Aorta
6	chr9:72788200-72800200	Weak transcription	Left Ventricle	heart
7	chr9:72792800-72801600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr9:72793000-72842600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:72793200-72804800	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:72793400-72802200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:72793800-72800200	Weak transcription	Ovary	ovary
12	chr9:72793800-72801000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:72794000-72801600	Weak transcription	HSMM	muscle
14	chr9:72794000-72806800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:72799800-72801000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:72799800-72802000	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr9:72799800-72802000	Strong transcription	HSMMtube	muscle
18	chr9:72800000-72800200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:72800000-72800800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:72800000-72800800	ZNF genes & repeats	Liver	Liver
21	chr9:72800000-72800800	ZNF genes & repeats	Esophagus	oesophagus
22	chr9:72800000-72800800	ZNF genes & repeats	Fetal Stomach	stomach
23	chr9:72800000-72800800	Strong transcription	Right Ventricle	heart
24	chr9:72800000-72801000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:72800000-72802200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr9:72800000-72802800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:72800000-72803200	Strong transcription	Stomach Smooth Muscle	stomach

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