Variant report

Variant	rs374748846
Chromosome Location	chr15:59499175-59499176
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:59498954-59499449	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:59499111-59499314	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:59499165-59499396	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:59498896-59499300	GM12891	blood:	n/a	n/a
5	POLR2A	chr15:59498864-59499398	GM12892	blood:	n/a	n/a
6	POLR2A	chr15:59498908-59499372	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:59499164-59499214	NH-A	brain:	n/a
2	chr15:59499164-59499214	NHBE	bronchial:	n/a
3	chr15:59499164-59499214	HRE	kidney:	n/a
4	chr15:59499164-59499214	NHDF-neo	bronchial:	n/a
5	chr15:59499164-59499214	GM12892	blood:	n/a
6	chr15:59499164-59499214	HUVEC	blood vessel:	n/a
7	chr15:59499164-59499214	BE2_C	brain:	n/a
8	chr15:59499164-59499214	HIPEpiC	eye:	n/a
9	chr15:59499164-59499214	GM12891	blood:	n/a
10	chr15:59499164-59499214	SKMC	muscle:	n/a
11	chr15:59499164-59499214	HRCEpiC	kidney:	n/a
12	chr15:59499164-59499214	AG10803	skin:	n/a
13	chr15:59499164-59499214	Hela-S3	cervix:	n/a
14	chr15:59499164-59499214	HNPCEpiC	eye:	n/a
15	chr15:59499164-59499214	GM06990	blood:	n/a
16	chr15:59499164-59499214	HCT-116	colon:	n/a
17	chr15:59499164-59499214	AG04449	skin:	fetal
18	chr15:59499164-59499214	HL-60	blood:	n/a
19	chr15:59499164-59499214	HPAEpiC	pulmonary alveolar:	n/a
20	chr15:59499164-59499214	SK-N-MC	brain:	n/a
21	chr15:59499164-59499214	NT2-D1	testis:	n/a
22	chr15:59499164-59499214	HCF	heart:	n/a
23	chr15:59499164-59499214	PrEC	prostate:	n/a
24	chr15:59499164-59499214	Jurkat	blood:	n/a
25	chr15:59499164-59499214	MCF10A-Er-Src	breast:	n/a
26	chr15:59499164-59499214	SK-N-SH	brain:	n/a
27	chr15:59499164-59499214	ECC-1	luminal epithelium:	n/a
28	chr15:59499164-59499214	AG04450	lung:	fetal
29	chr15:59499164-59499214	U87	brain:	n/a
30	chr15:59499164-59499214	ProgFib	skin:	n/a
31	chr15:59499164-59499214	AG09309	skin:	n/a
32	chr15:59499164-59499214	AG09319	gingival:	n/a
33	chr15:59499164-59499214	HRPEpiC	eye:	n/a
34	chr15:59499164-59499214	HMEC	breast:	n/a
35	chr15:59499164-59499214	T-47D	breast:	n/a
36	chr15:59499164-59499214	GM19239	blood:	n/a
37	chr15:59499164-59499214	HCM	heart:	n/a
38	chr15:59499164-59499214	K562	blood:	n/a
39	chr15:59499164-59499214	BJ	skin:	n/a
40	chr15:59499164-59499214	MCF-7	breast:	n/a
41	chr15:59499164-59499214	A549	lung:	n/a
42	chr15:59499164-59499214	PFSK-1	brain:	n/a
43	chr15:59499164-59499214	HEEpiC	esophagus:	n/a
44	chr15:59499164-59499214	CMK	blood:	n/a
45	chr15:59499164-59499214	H1-hESC	embryonic stem cell:	embryo
46	chr15:59499164-59499214	IMR90	lung:	fetal
47	chr15:59499164-59499214	NB4	blood:	n/a
48	chr15:59499164-59499214	HCPEpiC	choroid plexus:	n/a
49	chr15:59499164-59499214	AoSMC	blood vessel:	n/a
50	chr15:59499164-59499214	Caco-2	colon:	n/a

No data

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv974584	chr15:59499025-59500316	Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59467800-59523200	Weak transcription	Fetal Brain Female	brain
2	chr15:59468200-59528600	Weak transcription	Stomach Mucosa	stomach
3	chr15:59468600-59521400	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr15:59475200-59503200	Strong transcription	Liver	Liver
5	chr15:59475800-59517800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr15:59480200-59499200	Weak transcription	Fetal Lung	lung
7	chr15:59480200-59507200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:59480600-59507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:59482800-59499400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:59483200-59514000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:59484200-59499400	Weak transcription	Fetal Kidney	kidney
12	chr15:59485400-59515400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:59485600-59505800	Weak transcription	Brain Germinal Matrix	brain
14	chr15:59485600-59521200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:59487200-59502600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:59487600-59499400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:59487800-59524400	Weak transcription	Small Intestine	intestine
18	chr15:59489600-59503800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr15:59489800-59501200	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr15:59489800-59512600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr15:59489800-59515600	Weak transcription	Right Atrium	heart
22	chr15:59490000-59501200	Strong transcription	Fetal Muscle Leg	muscle
23	chr15:59490000-59501200	Strong transcription	Fetal Stomach	stomach
24	chr15:59490200-59502600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr15:59490200-59510800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:59490600-59501200	Strong transcription	Ovary	ovary
27	chr15:59491400-59501200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr15:59491400-59501200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:59491600-59503000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr15:59492000-59501200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:59492000-59503600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr15:59492000-59521600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr15:59492400-59501200	Strong transcription	Gastric	stomach
34	chr15:59492400-59502400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr15:59492800-59499400	Weak transcription	Fetal Heart	heart
36	chr15:59492800-59501200	Strong transcription	Left Ventricle	heart
37	chr15:59493000-59499800	Strong transcription	HSMMtube	muscle
38	chr15:59493000-59501200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr15:59493000-59501800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:59493000-59503000	Strong transcription	Adipose Nuclei	Adipose
41	chr15:59493000-59503400	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr15:59493000-59506200	Strong transcription	Fetal Intestine Small	intestine
43	chr15:59493000-59512000	Strong transcription	HSMM	muscle
44	chr15:59493000-59513800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:59493200-59500600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:59493200-59502400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:59493200-59502800	Strong transcription	HUVEC	blood vessel
48	chr15:59493200-59513600	Strong transcription	Osteobl	bone
49	chr15:59493200-59513800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:59493200-59514400	Strong transcription	HMEC	breast

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