Variant report

Variant	rs4652510
Chromosome Location	chr1:180518806-180518807
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180511015..180513302-chr1:180517883..180519397,2	K562	blood:
2	chr1:180518213..180520300-chr1:180521624..180524471,2	K562	blood:
3	chr1:180518736..180521138-chr1:180521840..180525224,3	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10157891	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10733004	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10737343	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10737344	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10737345	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10753210	0.81[ASN][1000 genomes]
rs10753213	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10753214	0.81[ASN][1000 genomes]
rs10753217	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10798763	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10798764	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10913972	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10914011	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10914019	0.81[ASN][1000 genomes]
rs10914020	0.81[ASN][1000 genomes]
rs12027553	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12077904	0.81[ASN][1000 genomes]
rs12144149	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12565152	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1339722	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1339723	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1339726	0.81[ASN][1000 genomes]
rs1361363	0.81[ASN][1000 genomes]
rs1361628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1418100	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1418103	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1556935	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1556938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1591898	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1934411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1935283	0.81[ASN][1000 genomes]
rs1970401	0.84[AMR][1000 genomes]
rs2153327	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2153753	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2331739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2331742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41267628	0.91[AMR][1000 genomes]
rs41267634	0.91[AMR][1000 genomes]
rs4259605	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4281291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4304539	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4333819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4532796	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4540612	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4609392	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4651061	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4651063	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4651066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs4651067	0.81[ASN][1000 genomes]
rs4652501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4652502	0.84[EUR][1000 genomes]
rs4652506	0.81[ASN][1000 genomes]
rs61809269	0.84[AMR][1000 genomes]
rs61809270	0.84[AMR][1000 genomes]
rs61809273	0.84[AMR][1000 genomes]
rs61809274	0.84[AMR][1000 genomes]
rs61809275	0.84[AMR][1000 genomes]
rs61809276	0.84[AMR][1000 genomes]
rs61811598	1.00[AFR][1000 genomes]
rs61811599	1.00[AFR][1000 genomes]
rs61811602	1.00[AFR][1000 genomes]
rs61811603	1.00[AFR][1000 genomes]
rs61811605	1.00[AFR][1000 genomes]
rs61811613	1.00[AFR][1000 genomes]
rs61811614	1.00[AFR][1000 genomes]
rs61811617	1.00[AFR][1000 genomes]
rs61811618	1.00[AFR][1000 genomes]
rs61811619	1.00[AFR][1000 genomes]
rs61811621	1.00[AFR][1000 genomes]
rs61811627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61811628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61811630	0.91[AMR][1000 genomes]
rs61811631	0.91[AMR][1000 genomes]
rs61811635	0.84[AMR][1000 genomes]
rs6425620	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425621	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425623	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425624	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425626	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425630	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425642	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425647	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6659147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6665615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6667478	0.81[ASN][1000 genomes]
rs6669304	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6677367	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6678261	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680754	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6682067	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6683484	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6684842	0.81[ASN][1000 genomes]
rs6687873	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6691333	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6695360	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7515052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7522928	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7526743	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7529042	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530015	1.00[CHB][hapmap]
rs7532972	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7542568	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543143	0.81[ASN][1000 genomes]
rs7546030	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7548707	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7548884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7555087	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs946633	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs946634	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180510400-180529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:180511800-180521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:180512200-180521200	Weak transcription	HSMMtube	muscle
4	chr1:180513600-180521200	Weak transcription	Right Ventricle	heart
5	chr1:180516200-180519000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:180516200-180519400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:180516400-180520600	Weak transcription	Left Ventricle	heart
8	chr1:180516400-180521200	Weak transcription	Right Atrium	heart
9	chr1:180516600-180536800	Weak transcription	Psoas Muscle	Psoas
10	chr1:180517200-180519400	Enhancers	Fetal Brain Female	brain
11	chr1:180517400-180519200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:180517600-180523200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:180518400-180522600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:180518600-180519600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:180518600-180521200	Weak transcription	Fetal Heart	heart
16	chr1:180518800-180519400	Weak transcription	Brain Germinal Matrix	brain

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