Variant report

Variant	rs1992517
Chromosome Location	chr4:152428612-152428613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152424956..152426757-chr4:152427452..152429748,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10857261	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11099813	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11099818	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11723643	0.86[EUR][1000 genomes]
rs11726171	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11726222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11726545	0.97[EUR][1000 genomes]
rs11729514	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729871	0.83[EUR][1000 genomes]
rs11730733	0.89[EUR][1000 genomes]
rs11734176	0.86[EUR][1000 genomes]
rs11735143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736261	0.86[EUR][1000 genomes]
rs11736961	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11934818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947720	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12054502	0.86[EUR][1000 genomes]
rs12498556	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12498878	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12502212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504273	0.92[EUR][1000 genomes]
rs12508678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511280	0.86[EUR][1000 genomes]
rs1366908	0.86[EUR][1000 genomes]
rs1372979	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1443085	0.97[EUR][1000 genomes]
rs17027716	0.86[EUR][1000 genomes]
rs17275584	0.92[EUR][1000 genomes]
rs17275605	0.86[EUR][1000 genomes]
rs17275612	0.86[EUR][1000 genomes]
rs28447105	0.86[EUR][1000 genomes]
rs28463438	0.86[EUR][1000 genomes]
rs28498882	0.86[EUR][1000 genomes]
rs28672085	0.86[EUR][1000 genomes]
rs28715753	0.86[EUR][1000 genomes]
rs3172567	0.86[EUR][1000 genomes]
rs35588363	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36083376	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811748	0.86[EUR][1000 genomes]
rs3811749	0.86[EUR][1000 genomes]
rs3934474	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4371601	0.92[EUR][1000 genomes]
rs4622982	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56092201	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56763519	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57178913	0.81[EUR][1000 genomes]
rs57272881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57348790	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57556564	0.86[EUR][1000 genomes]
rs58443173	0.86[EUR][1000 genomes]
rs58863309	0.86[EUR][1000 genomes]
rs58961701	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59731141	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59744221	0.86[EUR][1000 genomes]
rs59777523	0.86[EUR][1000 genomes]
rs59811197	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59984665	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60055392	0.86[EUR][1000 genomes]
rs60077220	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60122169	0.86[EUR][1000 genomes]
rs60169090	0.97[EUR][1000 genomes]
rs60707008	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61294884	0.92[EUR][1000 genomes]
rs61302767	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61630225	0.88[EUR][1000 genomes]
rs6535791	0.81[EUR][1000 genomes]
rs6535802	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6535805	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6813289	0.86[EUR][1000 genomes]
rs6817055	0.81[EUR][1000 genomes]
rs6826318	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6832899	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6835310	0.97[EUR][1000 genomes]
rs6838608	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839738	0.86[EUR][1000 genomes]
rs6844169	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845067	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6846013	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6846759	0.83[EUR][1000 genomes]
rs6851305	0.86[EUR][1000 genomes]
rs6853342	0.89[EUR][1000 genomes]
rs6856392	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6858573	0.86[EUR][1000 genomes]
rs73861275	0.86[EUR][1000 genomes]
rs73861826	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73861827	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73862055	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73862076	0.89[EUR][1000 genomes]
rs73862080	0.86[EUR][1000 genomes]
rs73862085	0.83[EUR][1000 genomes]
rs73864013	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7653926	0.92[EUR][1000 genomes]
rs7655466	0.92[EUR][1000 genomes]
rs7662214	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7662713	0.89[EUR][1000 genomes]
rs7664074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671456	0.86[EUR][1000 genomes]
rs7675933	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7677528	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7684972	0.86[EUR][1000 genomes]
rs7690773	0.86[EUR][1000 genomes]
rs7699787	0.89[EUR][1000 genomes]
rs9683881	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9917912	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1025192	chr4:152202627-152498890	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv537307	chr4:152202627-152498890	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv880624	chr4:152280646-152549112	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv881342	chr4:152363772-152560449	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv830114	chr4:152401288-152548606	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv508321	chr4:152409994-152474456	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152407400-152443000	Weak transcription	Pancreas	Pancrea
2	chr4:152411000-152430600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:152411800-152433800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:152419200-152429600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:152421000-152431200	Weak transcription	Fetal Intestine Small	intestine
6	chr4:152421800-152429400	Weak transcription	Psoas Muscle	Psoas
7	chr4:152425000-152430600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:152425200-152431000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:152427400-152432000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:152428400-152430600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:152428400-152432000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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