Variant report

Variant	rs12132032
Chromosome Location	chr1:84566589-84566590
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84542674..84544962-chr1:84565037..84567617,2	K562	blood:
2	chr1:78469054..78471731-chr1:84565810..84568656,2	K562	blood:
3	chr1:84546484..84549256-chr1:84565111..84567143,2	K562	blood:
4	chr1:84547756..84549761-chr1:84565111..84567613,2	K562	blood:
5	chr1:84542584..84544583-chr1:84564103..84567078,2	MCF-7	breast:
6	chr1:84542019..84545394-chr1:84564150..84567617,5	K562	blood:
7	chr1:84559252..84561971-chr1:84565558..84569310,4	K562	blood:

Variant related genes	Relation type
ENSG00000162616	Chromatin interaction
ENSG00000271576	Chromatin interaction
ENSG00000142875	Chromatin interaction
ENSG00000273338	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1021490	0.86[AMR][1000 genomes]
rs10493750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874428	0.82[AMR][1000 genomes]
rs11163898	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11163900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163903	0.80[AMR][1000 genomes]
rs11163905	0.80[AMR][1000 genomes]
rs11163906	0.84[AMR][1000 genomes]
rs11163907	0.80[AMR][1000 genomes]
rs11163908	0.80[AMR][1000 genomes]
rs12057561	0.82[AMR][1000 genomes]
rs12064926	0.80[AMR][1000 genomes]
rs12070547	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12094426	0.80[AMR][1000 genomes]
rs12119275	0.83[JPT][hapmap]
rs12404263	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12405120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12723299	0.80[AMR][1000 genomes]
rs12724598	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12746741	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12759624	0.80[AMR][1000 genomes]
rs12760594	0.80[AMR][1000 genomes]
rs1402694	0.80[AMR][1000 genomes]
rs1472243	0.82[AMR][1000 genomes]
rs1521518	0.80[AMR][1000 genomes]
rs1565823	0.82[AMR][1000 genomes]
rs1874070	0.80[AMR][1000 genomes]
rs34179759	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34495740	0.93[ASN][1000 genomes]
rs35452337	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3861699	0.92[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs6576960	0.80[AMR][1000 genomes]
rs6576962	0.83[AMR][1000 genomes]
rs6661492	0.80[AMR][1000 genomes]
rs6669045	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695305	0.80[AMR][1000 genomes]
rs6703653	0.89[JPT][hapmap]
rs67276144	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72711192	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512288	0.80[AMR][1000 genomes]
rs7515264	0.80[AMR][1000 genomes]
rs7520283	0.89[JPT][hapmap]
rs7532712	0.80[AMR][1000 genomes]
rs953197	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84545000-84566800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:84545000-84570000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:84545200-84568600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:84545800-84568600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:84552200-84569000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:84555400-84568400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:84556400-84568400	Weak transcription	Brain Angular Gyrus	brain
8	chr1:84556400-84568400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:84556400-84568400	Weak transcription	A549	lung
10	chr1:84556400-84568400	Weak transcription	HSMM	muscle
11	chr1:84556400-84569000	Weak transcription	Left Ventricle	heart
12	chr1:84556600-84566600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:84556600-84568600	Weak transcription	Brain Substantia Nigra	brain
14	chr1:84561000-84568600	Weak transcription	Fetal Lung	lung
15	chr1:84562200-84568800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:84562400-84568400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:84563800-84569000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:84565400-84567400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr1:84565800-84567000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:84565800-84568000	Enhancers	Fetal Intestine Large	intestine
21	chr1:84566400-84567200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:84566400-84567400	Enhancers	NHEK	skin

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