Variant report

Variant	rs1972344
Chromosome Location	chr1:193282645-193282646
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193277384..193279314-chr1:193280821..193282832,2	K562	blood:
2	chr1:193277193..193280125-chr1:193280849..193282913,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10737623	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10754054	0.87[EUR][1000 genomes]
rs10754055	0.89[EUR][1000 genomes]
rs10801194	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10921336	0.86[EUR][1000 genomes]
rs10921343	0.81[EUR][1000 genomes]
rs12034095	0.84[EUR][1000 genomes]
rs12037055	0.83[EUR][1000 genomes]
rs12040365	0.83[EUR][1000 genomes]
rs12041893	0.83[EUR][1000 genomes]
rs1221502	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1339961	0.93[EUR][1000 genomes]
rs1416977	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1616234	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1632444	0.89[EUR][1000 genomes]
rs16835282	0.87[EUR][1000 genomes]
rs16835304	0.83[EUR][1000 genomes]
rs1749424	0.83[EUR][1000 genomes]
rs1749429	0.92[EUR][1000 genomes]
rs1749430	0.86[EUR][1000 genomes]
rs1749431	0.86[EUR][1000 genomes]
rs1749432	0.87[EUR][1000 genomes]
rs1769999	0.87[EUR][1000 genomes]
rs1972345	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078083	0.81[EUR][1000 genomes]
rs2254646	0.89[EUR][1000 genomes]
rs2370264	0.96[ASN][1000 genomes]
rs2477549	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2486842	0.85[EUR][1000 genomes]
rs4379660	0.81[EUR][1000 genomes]
rs4657854	0.84[EUR][1000 genomes]
rs4657855	0.83[EUR][1000 genomes]
rs4657856	0.84[EUR][1000 genomes]
rs475163	0.84[EUR][1000 genomes]
rs497362	0.85[EUR][1000 genomes]
rs503265	0.89[EUR][1000 genomes]
rs515964	0.88[EUR][1000 genomes]
rs523402	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs524701	0.86[EUR][1000 genomes]
rs543788	0.89[EUR][1000 genomes]
rs560900	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569656	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs571029	0.87[EUR][1000 genomes]
rs578639	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59264807	0.87[EUR][1000 genomes]
rs6428159	0.86[EUR][1000 genomes]
rs6428160	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6428163	0.83[EUR][1000 genomes]
rs6428166	0.83[EUR][1000 genomes]
rs6671476	0.89[EUR][1000 genomes]
rs6693734	0.83[EUR][1000 genomes]
rs693519	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7518792	0.82[EUR][1000 genomes]
rs7528595	0.87[EUR][1000 genomes]
rs7550521	0.83[EUR][1000 genomes]
rs817136	0.86[EUR][1000 genomes]
rs817138	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs817140	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs817142	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817143	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs843844	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs942680	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9887974	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193276600-193283400	Enhancers	Fetal Intestine Small	intestine
2	chr1:193277000-193283400	Enhancers	Fetal Intestine Large	intestine
3	chr1:193279600-193282800	Enhancers	Duodenum Mucosa	Duodenum
4	chr1:193281000-193284400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:193282200-193283000	Enhancers	Small Intestine	intestine
6	chr1:193282200-193283200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr1:193282600-193283000	Enhancers	HepG2	liver
8	chr1:193282600-193283400	Active TSS	Rectal Mucosa Donor 29	rectum

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