Variant report

Variant	rs2932581
Chromosome Location	chr1:151933963-151933964
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151919533..151922319-chr1:151932817..151935606,2	MCF-7	breast:
2	chr1:151925413..151928425-chr1:151930738..151934740,3	MCF-7	breast:
3	chr1:151933684..151936159-chr1:151941486..151943210,2	MCF-7	breast:
4	chr1:151932606..151935514-chr1:151936511..151938848,2	MCF-7	breast:
5	chr1:151913842..151916280-chr1:151933238..151936084,3	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs1038747	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10788817	0.84[ASN][1000 genomes]
rs10788818	0.85[ASN][1000 genomes]
rs11204914	0.84[ASN][1000 genomes]
rs11204915	0.84[ASN][1000 genomes]
rs11204922	0.89[ASN][1000 genomes]
rs11542015	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11589720	0.95[ASN][1000 genomes]
rs12116923	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1387833	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1490189	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1907040	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2130525	0.86[AMR][1000 genomes]
rs2279501	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2279502	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2337689	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2338019	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2338209	0.81[AMR][1000 genomes]
rs2932565	0.81[AMR][1000 genomes]
rs2932576	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2932577	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2932579	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2932583	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2932586	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2932590	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2999506	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2999508	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999512	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999526	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2999528	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2999531	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2999542	0.80[AMR][1000 genomes]
rs2999544	0.81[AMR][1000 genomes]
rs2999545	0.86[ASN][1000 genomes]
rs2999546	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3007691	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3007708	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6662611	0.81[ASN][1000 genomes]
rs9435963	0.81[AMR][1000 genomes]
rs9435964	0.81[AMR][1000 genomes]
rs9943281	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2932581	THEM4	cis	Esophagus Muscularis	GTEx
rs2932581	THEM4	cis	multi-tissue	Pritchard
rs2932581	S100A10	Cis_1M	lymphoblastoid	RTeQTL
rs2932581	THEM4	cis	Nerve Tibial	GTEx
rs2932581	THEM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151930800-151940800	Weak transcription	NHDF-Ad	bronchial
2	chr1:151931600-151934000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:151931800-151935200	Weak transcription	Hela-S3	cervix
4	chr1:151932800-151934200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:151932800-151934200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:151932800-151934200	Enhancers	Stomach Mucosa	stomach
7	chr1:151932800-151936400	Enhancers	Fetal Kidney	kidney
8	chr1:151933000-151934000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:151933000-151934200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:151933000-151934200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:151933000-151934400	Enhancers	Fetal Lung	lung
12	chr1:151933000-151934800	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr1:151933000-151934800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr1:151933200-151936200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:151933400-151934200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr1:151933400-151935600	Weak transcription	Adipose Nuclei	Adipose
17	chr1:151933400-151936400	Enhancers	NHEK	skin
18	chr1:151933600-151934800	Enhancers	Fetal Intestine Small	intestine
19	chr1:151933600-151937200	Enhancers	HUVEC	blood vessel
20	chr1:151933600-151945000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:151933800-151934200	Enhancers	Fetal Muscle Leg	muscle
22	chr1:151933800-151934200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:151933800-151934400	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:151933800-151934800	Enhancers	Fetal Intestine Large	intestine

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