Variant report

Variant	rs7165587
Chromosome Location	chr15:59524056-59524057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:59523915-59524343	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:59523841-59524437	A549	lung:	n/a	n/a
3	POLR2A	chr15:59523681-59524459	GM12892	blood:	n/a	n/a
4	POLR2A	chr15:59523796-59524520	GM12891	blood:	n/a	n/a
5	POLR2A	chr15:59523769-59525152	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:59523737-59524461	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr15:59523839-59524101	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:59523098-59525315	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:59524009-59524059	SK-N-SH	brain:	n/a
2	chr15:59524009-59524059	HCM	heart:	n/a
3	chr15:59524009-59524059	RPTEC	kidney:	n/a
4	chr15:59524009-59524059	HepG2	liver:	n/a
5	chr15:59524009-59524059	GM12892	blood:	n/a
6	chr15:59524009-59524059	ProgFib	skin:	n/a
7	chr15:59524009-59524059	T-47D	breast:	n/a
8	chr15:59524009-59524059	IMR90	lung:	fetal
9	chr15:59524009-59524059	Hela-S3	cervix:	n/a
10	chr15:59524009-59524059	NT2-D1	testis:	n/a
11	chr15:59524009-59524059	HEK293	kidney:	embryo
12	chr15:59524009-59524059	HAEpiC	amniotic membrane:	n/a
13	chr15:59524009-59524059	A549	lung:	n/a
14	chr15:59524009-59524059	AG09309	skin:	n/a
15	chr15:59524009-59524059	HPAEpiC	pulmonary alveolar:	n/a
16	chr15:59524009-59524059	AoSMC	blood vessel:	n/a
17	chr15:59524009-59524059	PrEC	prostate:	n/a
18	chr15:59524009-59524059	HCPEpiC	choroid plexus:	n/a
19	chr15:59524009-59524059	HUVEC	blood vessel:	n/a
20	chr15:59524009-59524059	GM19239	blood:	n/a
21	chr15:59524009-59524059	SAEC	small airway:	n/a
22	chr15:59524009-59524059	AG09319	gingival:	n/a
23	chr15:59524009-59524059	LNCaP	prostate:	n/a
24	chr15:59524009-59524059	NHDF-neo	bronchial:	n/a
25	chr15:59524009-59524059	MCF-7	breast:	n/a
26	chr15:59524009-59524059	HEEpiC	esophagus:	n/a
27	chr15:59524009-59524059	Jurkat	blood:	n/a
28	chr15:59524009-59524059	SKMC	muscle:	n/a
29	chr15:59524009-59524059	H1-hESC	embryonic stem cell:	embryo
30	chr15:59524009-59524059	AG04449	skin:	fetal
31	chr15:59524009-59524059	GM12891	blood:	n/a
32	chr15:59524009-59524059	Caco-2	colon:	n/a
33	chr15:59524009-59524059	K562	blood:	n/a
34	chr15:59524009-59524059	HMEC	breast:	n/a
35	chr15:59524009-59524059	MCF10A-Er-Src	breast:	n/a
36	chr15:59524009-59524059	HRPEpiC	eye:	n/a
37	chr15:59524009-59524059	PFSK-1	brain:	n/a
38	chr15:59524009-59524059	AG04450	lung:	fetal
39	chr15:59524009-59524059	BJ	skin:	n/a
40	chr15:59524009-59524059	SK-N-MC	brain:	n/a
41	chr15:59524009-59524059	HCT-116	colon:	n/a
42	chr15:59524009-59524059	HRCEpiC	kidney:	n/a
43	chr15:59524009-59524059	GM12878	blood:	n/a
44	chr15:59524009-59524059	NHBE	bronchial:	n/a
45	chr15:59524009-59524059	HIPEpiC	eye:	n/a
46	chr15:59524009-59524059	Hepatocyte	liver:	n/a
47	chr15:59524009-59524059	HRE	kidney:	n/a
48	chr15:59524009-59524059	U87	brain:	n/a
49	chr15:59524009-59524059	CMK	blood:	n/a
50	chr15:59524009-59524059	AG10803	skin:	n/a

No data

Variant related genes	Relation type
MYO1E	TF binding region
MYO1E	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11632422	0.83[AMR][1000 genomes]
rs12591933	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4479172	0.83[AMR][1000 genomes]
rs6494082	0.83[AMR][1000 genomes]
rs6494083	0.83[AMR][1000 genomes]
rs7172010	0.83[AMR][1000 genomes]
rs8040220	0.83[AMR][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	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1035868	chr15:59402426-59530594	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv833027	chr15:59474806-59608544	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv904272	chr15:59500577-59549018	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv904273	chr15:59518488-59567137	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59468200-59528600	Weak transcription	Stomach Mucosa	stomach
2	chr15:59487800-59524400	Weak transcription	Small Intestine	intestine
3	chr15:59497000-59524800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:59500000-59524400	Weak transcription	Right Ventricle	heart
5	chr15:59500600-59524600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:59501200-59525600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:59502800-59525800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:59511400-59549200	Weak transcription	Colonic Mucosa	Colon
9	chr15:59514800-59524200	Weak transcription	Colon Smooth Muscle	Colon
10	chr15:59515000-59524400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:59515800-59566600	Weak transcription	Pancreas	Pancrea
12	chr15:59516400-59524600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:59516600-59524400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:59516600-59529400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:59517000-59524200	Strong transcription	HSMM	muscle
16	chr15:59517000-59530200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr15:59517000-59536600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr15:59517200-59524400	Weak transcription	Aorta	Aorta
19	chr15:59517200-59524400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr15:59517200-59528600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr15:59517200-59528800	Weak transcription	Primary B cells from cord blood	blood
22	chr15:59517200-59529000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:59517400-59524600	Weak transcription	Fetal Heart	heart
24	chr15:59517400-59529000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:59517400-59530000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr15:59517600-59524600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr15:59517600-59525000	Weak transcription	Spleen	Spleen
28	chr15:59517600-59528600	Weak transcription	HepG2	liver
29	chr15:59517600-59529000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:59517600-59546400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:59517800-59524200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr15:59517800-59524600	Weak transcription	Brain Anterior Caudate	brain
33	chr15:59517800-59528600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr15:59517800-59564200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr15:59518000-59528800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr15:59520000-59528800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:59520200-59525000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr15:59520600-59524200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:59521600-59524400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:59521600-59524600	Weak transcription	Brain Angular Gyrus	brain
41	chr15:59521600-59534400	Weak transcription	Placenta	Placenta
42	chr15:59521600-59566400	Weak transcription	Psoas Muscle	Psoas
43	chr15:59522200-59524800	Enhancers	Fetal Brain Male	brain
44	chr15:59522800-59524600	Strong transcription	NHEK	skin
45	chr15:59522800-59524800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr15:59522800-59525000	Strong transcription	GM12878-XiMat	blood
47	chr15:59522800-59525600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:59523000-59524400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:59523000-59524400	Genic enhancers	Brain Substantia Nigra	brain
50	chr15:59523000-59524400	Strong transcription	A549	lung

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