Variant report

Variant	rs2788119
Chromosome Location	chr1:212072578-212072579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212071600..212073818-chr1:212104650..212107451,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INTS7-2	chr1:212072488-212072588	NONHSAT009336

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10158561	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10465691	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs10863932	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11119806	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs11119821	0.82[ASN][1000 genomes]
rs12038038	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1539195	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2002081	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2788120	0.96[ASN][1000 genomes]
rs2788124	0.89[CHB][hapmap]
rs2788126	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2788127	0.84[ASN][1000 genomes]
rs2788132	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2788143	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2788147	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2808378	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2808379	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2970582	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970587	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2998418	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795834	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs4480424	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4951425	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4951431	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs4951434	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4951550	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs4951552	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4951553	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs6540712	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6680326	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs6685247	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688596	0.83[EUR][1000 genomes]
rs6698841	0.91[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7515713	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7518285	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7518833	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7522107	0.84[ASN][1000 genomes]
rs7533928	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533951	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs947438	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs9651110	0.84[CHB][hapmap];1.00[JPT][hapmap]

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	esv2762218	chr1:212046447-212087682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212063200-212074600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:212069200-212075200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:212069400-212073800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:212069600-212073800	Weak transcription	Fetal Intestine Small	intestine

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