Variant report

Variant	rs4657759
Chromosome Location	chr1:193670932-193670933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10436892	0.82[EUR][1000 genomes]
rs10465598	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10494690	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10737629	0.83[EUR][1000 genomes]
rs10754070	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10754071	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10754073	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10801212	0.81[EUR][1000 genomes]
rs10801213	0.81[EUR][1000 genomes]
rs10801221	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10801224	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10801226	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10801229	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10801230	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10801238	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10801239	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10801240	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10801241	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10801242	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10801243	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10921397	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10921399	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10921402	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10921403	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10921405	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10921406	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10921407	0.83[ASN][1000 genomes]
rs10921412	0.96[YRI][hapmap]
rs12022959	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12024767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12035314	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12040352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs12044024	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12408312	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12410414	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12411273	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1328193	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1328194	0.96[CEU][hapmap]
rs1339314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339315	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1339320	0.81[EUR][1000 genomes]
rs1410395	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1410396	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1410397	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1410399	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1410400	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1578121	0.80[EUR][1000 genomes]
rs1578122	0.81[EUR][1000 genomes]
rs1578126	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1582153	0.82[EUR][1000 genomes]
rs1887726	0.82[EUR][1000 genomes]
rs1981205	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1981206	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1981207	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1999034	0.89[CEU][hapmap];0.81[CHB][hapmap]
rs2039759	0.83[EUR][1000 genomes]
rs2149177	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2370443	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2370446	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34743399	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35091853	0.83[EUR][1000 genomes]
rs4142209	0.83[EUR][1000 genomes]
rs4290042	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4405124	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4495677	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4657760	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4657761	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4657762	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4657876	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4657880	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6671045	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6673280	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap]
rs6683700	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6686086	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6693917	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7413068	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7527158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7527278	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7547559	0.90[AFR][1000 genomes]
rs7550356	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs7550917	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7552269	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7553889	0.84[EUR][1000 genomes]
rs927981	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs958958	0.81[EUR][1000 genomes]
rs9660742	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs970212	0.81[EUR][1000 genomes]
rs982101	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs986765	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs986766	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3372415	chr1:193612172-193988265	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv34989	chr1:193630577-193710196	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2756877	chr1:193631528-193710196	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2758986	chr1:193631528-193710196	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1012595	chr1:193648643-193682630	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv441729	chr1:193661018-193710376	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3693068	chr1:193661626-193709696	Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv872832	chr1:193661626-193850407	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv34261	chr1:193663276-193710196	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv34863	chr1:193663276-193710196	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:193669000-193673400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:193669200-193671400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:193669600-193671400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:193669800-193671200	Enhancers	HMEC	breast
5	chr1:193669800-193671400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:193669800-193671400	Enhancers	Hela-S3	cervix
7	chr1:193669800-193671600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:193669800-193672200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:193670000-193671400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:193670200-193671400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:193670200-193674800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:193670600-193671000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:193670600-193674400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:193670600-193674600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:193670800-193672000	Enhancers	A549	lung
16	chr1:193670800-193674600	Weak transcription	NHEK	skin

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