Variant report

Variant	rs7631245
Chromosome Location	chr3:142528049-142528050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142526371..142529664-chr3:142531134..142533602,3	K562	blood:
2	chr3:142524560..142526927-chr3:142527541..142530171,3	K562	blood:
3	chr3:142517462..142521813-chr3:142523317..142528126,6	K562	blood:
4	chr3:142517462..142519257-chr3:142525193..142528126,2	K562	blood:
5	chr3:142526371..142529815-chr3:142530861..142533602,4	K562	blood:

Variant related genes	Relation type
ENSG00000251787	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11715459	0.83[CHB][hapmap]
rs11717993	0.80[EUR][1000 genomes]
rs1382688	0.83[MEX][hapmap];0.80[EUR][1000 genomes]
rs1871349	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs2033912	0.88[MEX][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs2049328	0.94[CHB][hapmap]
rs2177398	0.88[MEX][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs2354856	0.88[CHB][hapmap]
rs28372064	0.89[EUR][1000 genomes]
rs28658009	0.80[EUR][1000 genomes]
rs28661660	0.83[EUR][1000 genomes]
rs28689551	0.80[EUR][1000 genomes]
rs34076811	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34445140	0.80[EUR][1000 genomes]
rs3821647	0.88[CHB][hapmap]
rs3844273	1.00[CEU][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4259003	0.82[CHB][hapmap];0.83[MEX][hapmap]
rs4643748	0.80[EUR][1000 genomes]
rs55722370	0.80[EUR][1000 genomes]
rs55952834	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56666685	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59108985	0.80[EUR][1000 genomes]
rs60294656	0.80[EUR][1000 genomes]
rs60319320	0.80[EUR][1000 genomes]
rs60752859	0.80[EUR][1000 genomes]
rs6440104	0.83[CHB][hapmap]
rs6440108	0.80[EUR][1000 genomes]
rs6772222	0.80[EUR][1000 genomes]
rs6777466	0.80[EUR][1000 genomes]
rs6791501	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6803681	0.80[EUR][1000 genomes]
rs6807862	0.81[EUR][1000 genomes]
rs73232711	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7621642	0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs7623762	0.82[CHB][hapmap]
rs7637846	0.88[CHB][hapmap];0.81[EUR][1000 genomes]
rs7638459	0.88[MEX][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs7639403	0.88[MEX][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs7641514	0.94[CHB][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7772	0.80[CEU][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs953239	0.88[CHB][hapmap]
rs953641	0.83[CHB][hapmap]
rs9784320	0.95[EUR][1000 genomes]
rs9815607	0.88[CHB][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs9824476	0.80[EUR][1000 genomes]
rs9835135	0.80[EUR][1000 genomes]
rs9836269	0.80[EUR][1000 genomes]
rs9841007	0.95[EUR][1000 genomes]
rs9846406	0.95[EUR][1000 genomes]
rs9849461	0.83[MEX][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs9864230	0.80[EUR][1000 genomes]
rs9868886	0.88[CHB][hapmap];0.81[EUR][1000 genomes];0.85[ASN][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	nsv1000631	chr3:142516367-142572058	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142468400-142529400	Weak transcription	Brain Germinal Matrix	brain
2	chr3:142490200-142529400	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:142499400-142547800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:142501800-142535600	Weak transcription	Aorta	Aorta
5	chr3:142502000-142529400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:142514800-142572000	Weak transcription	Right Ventricle	heart
7	chr3:142515000-142530800	Weak transcription	HSMM	muscle
8	chr3:142519000-142572000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:142519800-142530000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:142521400-142528800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:142522200-142551800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:142522400-142530000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:142522800-142528600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:142523000-142528200	Weak transcription	Ovary	ovary
15	chr3:142523800-142539400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:142524000-142528600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:142524000-142530600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:142524000-142531400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:142524800-142561000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr3:142525000-142538600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:142525000-142543800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:142525000-142555800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:142525200-142539000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:142526600-142529200	Strong transcription	Adipose Nuclei	Adipose
25	chr3:142526600-142534800	Weak transcription	Liver	Liver
26	chr3:142526800-142528200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:142527200-142528400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:142527400-142528200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:142527400-142529000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:142527600-142547400	Weak transcription	A549	lung
31	chr3:142528000-142528400	Enhancers	Left Ventricle	heart

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