Variant report

Variant	rs72695749
Chromosome Location	chr4:159115904-159115905
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:159102937..159105249-chr4:159115504..159118638,3	MCF-7	breast:
2	chr4:159114676..159116572-chr4:159119638..159122096,2	K562	blood:
3	chr4:159098952..159100638-chr4:159114523..159117104,2	MCF-7	breast:
4	chr4:159114503..159116349-chr4:159118737..159121088,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250604	Chromatin interaction
ENSG00000251073	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10517685	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10517686	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11100152	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11933839	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11939690	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17036992	0.90[EUR][1000 genomes]
rs17036995	0.90[EUR][1000 genomes]
rs17037201	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17037232	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17212066	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17212714	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17271385	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17279270	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2881374	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6820988	0.85[EUR][1000 genomes]
rs6834839	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6837943	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72691615	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691620	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691622	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691626	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691627	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691629	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691631	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691632	0.90[EUR][1000 genomes]
rs72691633	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691634	0.90[EUR][1000 genomes]
rs72691636	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691649	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72695726	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72695736	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72695741	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695744	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695745	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695747	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695748	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695750	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695751	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695753	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678302	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs72695749	TMEM144	cis	Esophagus Muscularis	GTEx
rs72695749	RP11-597D13.9	cis	Skin Sun Exposed Lower leg	GTEx
rs72695749	RP11-597D13.9	cis	Esophagus Muscularis	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:159096400-159131200	Weak transcription	Right Ventricle	heart
2	chr4:159096400-159131200	Weak transcription	HepG2	liver
3	chr4:159097800-159122400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:159098400-159122800	Weak transcription	Fetal Intestine Small	intestine
5	chr4:159098800-159122800	Weak transcription	Fetal Intestine Large	intestine
6	chr4:159099800-159131200	Weak transcription	HSMM	muscle
7	chr4:159099800-159131400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:159100200-159120200	Weak transcription	Aorta	Aorta
9	chr4:159101600-159130400	Weak transcription	HUVEC	blood vessel
10	chr4:159107600-159118400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr4:159107600-159131200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:159108800-159120000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr4:159111200-159117000	Enhancers	Brain Anterior Caudate	brain
14	chr4:159113600-159131600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:159114000-159120400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:159114200-159131200	Weak transcription	HMEC	breast
17	chr4:159114400-159119800	Weak transcription	HSMMtube	muscle
18	chr4:159114400-159120400	Weak transcription	Left Ventricle	heart
19	chr4:159114800-159116600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:159114800-159122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:159115000-159119800	Weak transcription	Ovary	ovary
22	chr4:159115000-159123400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:159115200-159116200	Weak transcription	Brain Angular Gyrus	brain
24	chr4:159115200-159116200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:159115200-159120600	Weak transcription	Adipose Nuclei	Adipose
26	chr4:159115800-159116600	Enhancers	Brain Substantia Nigra	brain
27	chr4:159115800-159117000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:159115800-159117200	Enhancers	Brain Cingulate Gyrus	brain
29	chr4:159115800-159117200	Enhancers	Brain Hippocampus Middle	brain

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