Variant report

Variant	rs387214
Chromosome Location	chr1:76623146-76623147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10493579	1.00[YRI][hapmap]
rs12139215	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12140759	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1251569	1.00[YRI][hapmap]
rs1414403	1.00[CEU][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs1414406	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs167050	1.00[JPT][hapmap]
rs172334	1.00[JPT][hapmap]
rs17660966	1.00[YRI][hapmap]
rs1970226	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2631778	0.94[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs289682	0.82[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs289683	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs289698	1.00[JPT][hapmap]
rs289699	1.00[JPT][hapmap]
rs289700	1.00[JPT][hapmap]
rs289701	1.00[JPT][hapmap]
rs2992502	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2992503	1.00[JPT][hapmap]
rs3011987	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3011989	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3011994	1.00[JPT][hapmap]
rs3011995	1.00[JPT][hapmap]
rs3011997	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370016	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs370808	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs370908	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs371955	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389899	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs393933	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs398826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs402394	1.00[CEU][hapmap];0.92[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs404652	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs409312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs409979	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs411398	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs413350	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs418644	0.83[CEU][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs423152	0.87[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs425110	1.00[CEU][hapmap];0.92[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs427172	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429265	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs430875	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs431752	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs434633	1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs438166	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs442486	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs448003	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs450133	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs450636	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs450708	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs475686	0.88[EUR][1000 genomes]
rs532583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs544010	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs549195	1.00[ASN][1000 genomes]
rs597362	1.00[JPT][hapmap]
rs603022	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs622212	1.00[JPT][hapmap]
rs638593	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs643289	1.00[JPT][hapmap]
rs681280	0.80[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs860154	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs915402	1.00[JPT][hapmap]
rs915403	1.00[JPT][hapmap]
rs915404	1.00[JPT][hapmap]

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	nsv1488	chr1:76587622-76632635	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76616400-76623600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:76619800-76646400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:76620400-76623800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:76620400-76624000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:76620600-76627800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:76620800-76627800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:76621000-76625000	Weak transcription	Spleen	Spleen
8	chr1:76621000-76625200	Weak transcription	Primary T cells from cord blood	blood
9	chr1:76621000-76626000	Weak transcription	Fetal Intestine Small	intestine
10	chr1:76621000-76627000	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:76621000-76627600	Weak transcription	Fetal Lung	lung
12	chr1:76621000-76630600	Weak transcription	Psoas Muscle	Psoas
13	chr1:76621000-76630800	Weak transcription	Primary B cells from cord blood	blood
14	chr1:76622800-76623200	Weak transcription	Fetal Brain Male	brain

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