Variant report

Variant	rs1572992
Chromosome Location	chr1:224681938-224681939
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224677828..224680425-chr1:224681329..224683166,2	K562	blood:
2	chr1:224640045..224642435-chr1:224680202..224683058,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10495220	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10799573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10799574	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1112556	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12124686	1.00[CHB][hapmap]
rs12128292	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12140423	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1361618	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2405023	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2405028	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3958434	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4517322	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4653588	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4654045	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56168737	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6426129	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6673865	0.80[ASN][1000 genomes]
rs6683524	0.85[ASN][1000 genomes]
rs6688125	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6693653	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7531794	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7536124	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7536574	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7542507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7543421	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224677200-224685000	Weak transcription	NHLF	lung
2	chr1:224677600-224682600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:224677600-224683400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:224677800-224683400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:224677800-224684800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:224677800-224684800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:224677800-224685400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:224678000-224683000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:224678200-224683200	Weak transcription	Osteobl	bone
10	chr1:224678800-224682600	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:224679200-224683400	Weak transcription	HSMM	muscle
12	chr1:224679800-224689600	Weak transcription	Pancreas	Pancrea
13	chr1:224680000-224683000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:224680000-224685600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:224680400-224682000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:224680400-224682000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:224680600-224682000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:224680800-224682000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:224680800-224682200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:224680800-224683400	Weak transcription	NHDF-Ad	bronchial
21	chr1:224681000-224682200	Enhancers	Fetal Intestine Small	intestine
22	chr1:224681000-224682400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:224681000-224682400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:224681000-224683000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:224681000-224683200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:224681200-224682000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:224681200-224682400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:224681600-224684800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:224681600-224685400	Weak transcription	Esophagus	oesophagus
30	chr1:224681800-224684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:224681800-224685600	Weak transcription	Stomach Mucosa	stomach

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