Variant report

Variant	rs543657107
Chromosome Location	chr15:73661646-73661647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr15:73660354-73662087	H1-neurons	neurons:	n/a	chr15:73661985-73661995 chr15:73661347-73661357 chr15:73661296-73661306
2	POLR2A	chr15:73661556-73661928	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr15:73661446-73661976	H1-neurons	neurons:	n/a	n/a
4	E2F6	chr15:73661021-73662142	H1-hESC	embryonic stem cell:	n/a	chr15:73661348-73661358 chr15:73661368-73661377
5	SIN3A	chr15:73659134-73662077	H1-hESC	embryonic stem cell:	n/a	chr15:73660833-73660844
6	E2F6	chr15:73661598-73662138	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr15:73661643-73662133	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr15:73660453-73662080	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr15:73661092-73662035	H1-hESC	embryonic stem cell:	n/a	chr15:73661277-73661286 chr15:73661186-73661195

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:73661642-73661692	HRCEpiC	kidney:	n/a
2	chr15:73661642-73661692	HL-60	blood:	n/a
3	chr15:73661642-73661692	NH-A	brain:	n/a
4	chr15:73661642-73661692	HNPCEpiC	eye:	n/a
5	chr15:73661642-73661692	HEK293	kidney:	embryo
6	chr15:73661642-73661692	ECC-1	luminal epithelium:	n/a
7	chr15:73661642-73661692	HAEpiC	amniotic membrane:	n/a
8	chr15:73661642-73661692	PANC-1	pancreas:	n/a
9	chr15:73661642-73661692	NT2-D1	testis:	n/a
10	chr15:73661642-73661692	H1-hESC	embryonic stem cell:	embryo
11	chr15:73661642-73661692	Hela-S3	cervix:	n/a
12	chr15:73661642-73661692	AG04450	lung:	fetal
13	chr15:73661642-73661692	MCF-7	breast:	n/a
14	chr15:73661642-73661692	HepG2	liver:	n/a
15	chr15:73661642-73661692	K562	blood:	n/a
16	chr15:73661642-73661692	A549	lung:	n/a
17	chr15:73661642-73661692	GM06990	blood:	n/a
18	chr15:73661642-73661692	SK-N-SH_RA	brain:	n/a
19	chr15:73661642-73661692	HCM	heart:	n/a
20	chr15:73661642-73661692	NHDF-neo	bronchial:	n/a
21	chr15:73661642-73661692	HMEC	breast:	n/a
22	chr15:73661642-73661692	AoSMC	blood vessel:	n/a
23	chr15:73661642-73661692	GM19239	blood:	n/a
24	chr15:73661642-73661692	T-47D	breast:	n/a
25	chr15:73661642-73661692	IMR90	lung:	fetal
26	chr15:73661642-73661692	BJ	skin:	n/a
27	chr15:73661642-73661692	LNCaP	prostate:	n/a
28	chr15:73661642-73661692	NHBE	bronchial:	n/a
29	chr15:73661642-73661692	SAEC	small airway:	n/a
30	chr15:73661642-73661692	HCPEpiC	choroid plexus:	n/a
31	chr15:73661642-73661692	Caco-2	colon:	n/a
32	chr15:73661642-73661692	HCT-116	colon:	n/a
33	chr15:73661642-73661692	AG09309	skin:	n/a
34	chr15:73661642-73661692	ProgFib	skin:	n/a
35	chr15:73661642-73661692	SK-N-MC	brain:	n/a
36	chr15:73661642-73661692	GM12891	blood:	n/a
37	chr15:73661642-73661692	RPTEC	kidney:	n/a
38	chr15:73661642-73661692	HEEpiC	esophagus:	n/a
39	chr15:73661642-73661692	MCF10A-Er-Src	breast:	n/a
40	chr15:73661642-73661692	AG09319	gingival:	n/a
41	chr15:73661642-73661692	Jurkat	blood:	n/a
42	chr15:73661642-73661692	SK-N-SH	brain:	n/a
43	chr15:73661642-73661692	U87	brain:	n/a
44	chr15:73661642-73661692	GM12878	blood:	n/a
45	chr15:73661642-73661692	SKMC	muscle:	n/a
46	chr15:73661642-73661692	HRE	kidney:	n/a
47	chr15:73661642-73661692	HUVEC	blood vessel:	n/a
48	chr15:73661642-73661692	HRPEpiC	eye:	n/a
49	chr15:73661642-73661692	GM12892	blood:	n/a
50	chr15:73661642-73661692	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73659851..73663146-chr15:73925069..73927598,3	MCF-7	breast:

No data

Variant related genes	Relation type
HCN4	TF binding region
HCN4	CpG island
ENSG00000156642	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv457202	chr15:73612377-73680301	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv569949	chr15:73612377-73680301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv524049	chr15:73612833-73680301	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3388771	chr15:73659224-73662947	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	esv3403418	chr15:73659924-73662772	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	esv1829669	chr15:73660092-73664741	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	esv1834801	chr15:73660092-73664741	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
9	esv1836096	chr15:73660092-73664741	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
10	nsv569954	chr15:73660092-73664741	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
11	esv1792198	chr15:73660092-73669017	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
12	esv1847480	chr15:73660092-73669461	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
13	esv1842293	chr15:73660092-73669680	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
14	esv1823194	chr15:73660092-73680301	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv1808787	chr15:73660269-73664741	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
16	esv1837204	chr15:73660269-73669177	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
17	esv1847077	chr15:73660269-73669680	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
18	nsv569968	chr15:73660615-73664741	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
19	nsv569969	chr15:73660615-73668907	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73658600-73661800	Active TSS	Right Atrium	heart
2	chr15:73659200-73661800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
3	chr15:73659200-73662000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:73659400-73661800	Bivalent Enhancer	Spleen	Spleen
5	chr15:73659400-73662000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:73659400-73662000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr15:73659400-73662200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:73659400-73662200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr15:73659600-73661800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:73659600-73662200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr15:73659600-73662200	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr15:73659800-73661800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr15:73659800-73662000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:73660000-73661800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr15:73660000-73661800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:73660000-73661800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr15:73660000-73662200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr15:73660000-73662200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr15:73660600-73661800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
20	chr15:73661000-73661800	Bivalent/Poised TSS	Psoas Muscle	Psoas
21	chr15:73661000-73662000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:73661200-73661800	Bivalent Enhancer	Esophagus	oesophagus
23	chr15:73661200-73661800	Weak transcription	Gastric	stomach
24	chr15:73661200-73661800	Bivalent Enhancer	Lung	lung
25	chr15:73661200-73661800	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr15:73661200-73662000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
27	chr15:73661200-73662000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr15:73661200-73662000	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr15:73661200-73662000	Bivalent Enhancer	Fetal Stomach	stomach
30	chr15:73661200-73662200	Bivalent Enhancer	Fetal Brain Male	brain
31	chr15:73661200-73662800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:73661400-73661800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
33	chr15:73661400-73661800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:73661400-73661800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:73661400-73661800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
36	chr15:73661400-73661800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
37	chr15:73661400-73661800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
38	chr15:73661400-73661800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
39	chr15:73661400-73661800	Flanking Bivalent TSS/Enh	A549	lung
40	chr15:73661400-73662000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:73661400-73662000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:73661400-73662000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:73661400-73662000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:73661400-73662000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr15:73661400-73662000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:73661400-73662000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr15:73661400-73662000	Bivalent Enhancer	Placenta	Placenta
48	chr15:73661400-73662000	Bivalent Enhancer	Ovary	ovary
49	chr15:73661400-73662000	Enhancers	Pancreas	Pancrea
50	chr15:73661400-73662200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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