Variant report

Variant	rs72691633
Chromosome Location	chr4:159041630-159041631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:159040586..159043659-chr4:159090356..159092814,3	MCF-7	breast:
2	chr4:159014385..159016745-chr4:159041064..159043729,3	MCF-7	breast:
3	chr4:159036873..159039591-chr4:159040527..159042688,2	MCF-7	breast:
4	chr4:159041377..159043283-chr4:159093182..159095252,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164125	Chromatin interaction
ENSG00000248429	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10021199	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10517685	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10517686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11100152	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11933839	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11939690	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13130880	0.86[ASN][1000 genomes]
rs13137328	0.86[ASN][1000 genomes]
rs13137541	0.86[ASN][1000 genomes]
rs17036992	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036995	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17037201	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17037232	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17212066	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17212714	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17271385	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17279270	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2881374	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4443327	0.86[ASN][1000 genomes]
rs4510503	0.86[ASN][1000 genomes]
rs4608853	0.86[ASN][1000 genomes]
rs6536294	0.86[ASN][1000 genomes]
rs6815974	0.86[ASN][1000 genomes]
rs6820988	0.80[EUR][1000 genomes]
rs6834839	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6837943	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691603	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72691606	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72691610	0.81[EUR][1000 genomes]
rs72691615	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691620	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691622	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691626	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691627	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691629	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691631	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691632	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691634	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691636	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691649	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72695726	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72695736	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72695741	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72695744	0.90[EUR][1000 genomes]
rs72695745	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72695747	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72695748	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72695749	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72695750	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72695751	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72695753	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7664129	0.86[ASN][1000 genomes]
rs7678302	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9997618	0.86[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	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1021067	chr4:158972282-159175475	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv880293	chr4:159012365-159049020	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs72691633	RP11-597D13.9	cis	Esophagus Muscularis	GTEx
rs72691633	TMEM144	cis	Esophagus Muscularis	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:159031400-159042000	Weak transcription	Fetal Heart	heart
2	chr4:159033600-159042400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr4:159034200-159046200	Weak transcription	HUVEC	blood vessel
4	chr4:159039000-159042600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:159041200-159043800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:159041200-159043800	Enhancers	Fetal Stomach	stomach
7	chr4:159041400-159041800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:159041400-159042000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:159041400-159042000	Enhancers	Adipose Nuclei	Adipose
10	chr4:159041400-159042000	Enhancers	Fetal Kidney	kidney
11	chr4:159041400-159042000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr4:159041400-159042000	Enhancers	NHDF-Ad	bronchial
13	chr4:159041400-159042000	Enhancers	Osteobl	bone
14	chr4:159041400-159042200	Enhancers	Colon Smooth Muscle	Colon
15	chr4:159041400-159042600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:159041400-159042600	Enhancers	HSMMtube	muscle
17	chr4:159041400-159043000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr4:159041400-159043000	Enhancers	Rectal Smooth Muscle	rectum
19	chr4:159041400-159044600	Enhancers	HSMM	muscle
20	chr4:159041600-159042000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:159041600-159042200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr4:159041600-159042400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:159041600-159042400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:159041600-159043800	Weak transcription	NHLF	lung
25	chr4:159041600-159044200	Enhancers	Fetal Lung	lung

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