Variant report

Variant	rs17140723
Chromosome Location	chr7:19185177-19185178
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:19185156-19185752	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr7:19184399-19185884	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr7:19185128-19185408	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr7:19183168-19186146	NT2-D1	testis:	n/a	n/a
5	CTBP2	chr7:19183190-19185798	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr7:19185083-19185435	ECC-1	luminal epithelium:	n/a	n/a
7	REST	chr7:19185132-19185784	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr7:19184707-19185910	H1-hESC	embryonic stem cell:	n/a	n/a
9	SUZ12	chr7:19184296-19185734	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr7:19185048-19185860	H1-hESC	embryonic stem cell:	n/a	n/a
11	REST	chr7:19185108-19185307	PFSK-1	brain:	n/a	n/a
12	REST	chr7:19185070-19185476	ECC-1	luminal epithelium:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:19185139-19185189	AG04449	skin:	fetal
2	chr7:19185165-19185215	HL-60	blood:	n/a
3	chr7:19185165-19185215	HPAEpiC	pulmonary alveolar:	n/a
4	chr7:19185165-19185215	AG04450	lung:	fetal
5	chr7:19185139-19185189	HPAEpiC	pulmonary alveolar:	n/a
6	chr7:19185139-19185189	HAEpiC	amniotic membrane:	n/a
7	chr7:19185139-19185189	SK-N-SH	brain:	n/a
8	chr7:19185139-19185189	SK-N-SH_RA	brain:	n/a
9	chr7:19185139-19185189	GM12892	blood:	n/a
10	chr7:19185139-19185189	ECC-1	luminal epithelium:	n/a
11	chr7:19185165-19185215	HAEpiC	amniotic membrane:	n/a
12	chr7:19185165-19185215	SKMC	muscle:	n/a
13	chr7:19185165-19185215	NB4	blood:	n/a
14	chr7:19185165-19185215	AG09309	skin:	n/a
15	chr7:19185139-19185189	HRCEpiC	kidney:	n/a
16	chr7:19185165-19185215	ECC-1	luminal epithelium:	n/a
17	chr7:19185139-19185189	HRPEpiC	eye:	n/a
18	chr7:19185165-19185215	ProgFib	skin:	n/a
19	chr7:19185139-19185189	HUVEC	blood vessel:	n/a
20	chr7:19185139-19185189	HCM	heart:	n/a
21	chr7:19185165-19185215	HNPCEpiC	eye:	n/a
22	chr7:19185139-19185189	AoSMC	blood vessel:	n/a
23	chr7:19185139-19185189	PrEC	prostate:	n/a
24	chr7:19185165-19185215	SK-N-MC	brain:	n/a
25	chr7:19185165-19185215	HCF	heart:	n/a
26	chr7:19185139-19185189	GM19239	blood:	n/a
27	chr7:19185165-19185215	NT2-D1	testis:	n/a
28	chr7:19185139-19185189	NT2-D1	testis:	n/a
29	chr7:19185139-19185189	A549	lung:	n/a
30	chr7:19185139-19185189	GM06990	blood:	n/a
31	chr7:19185139-19185189	HCPEpiC	choroid plexus:	n/a
32	chr7:19185139-19185189	AG09309	skin:	n/a
33	chr7:19185165-19185215	GM19239	blood:	n/a
34	chr7:19185165-19185215	Caco-2	colon:	n/a
35	chr7:19185139-19185189	HNPCEpiC	eye:	n/a
36	chr7:19185139-19185189	PFSK-1	brain:	n/a
37	chr7:19185139-19185189	IMR90	lung:	fetal
38	chr7:19185165-19185215	GM12892	blood:	n/a
39	chr7:19185139-19185189	ProgFib	skin:	n/a
40	chr7:19185165-19185215	NHDF-neo	bronchial:	n/a
41	chr7:19185139-19185189	NHBE	bronchial:	n/a
42	chr7:19185165-19185215	BE2_C	brain:	n/a
43	chr7:19185165-19185215	BJ	skin:	n/a
44	chr7:19185165-19185215	RPTEC	kidney:	n/a
45	chr7:19185165-19185215	A549	lung:	n/a
46	chr7:19185139-19185189	BE2_C	brain:	n/a
47	chr7:19185139-19185189	SAEC	small airway:	n/a
48	chr7:19185165-19185215	LNCaP	prostate:	n/a
49	chr7:19185139-19185189	SKMC	muscle:	n/a
50	chr7:19185165-19185215	GM12878	blood:	n/a

No data

Variant related genes	Relation type
FERD3L	TF binding region
FERD3L	CpG island

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13437817	1.00[JPT][hapmap]

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	nsv531020	chr7:18971153-19261019	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv532096	chr7:19094324-19361216	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv532097	chr7:19105767-19302951	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1022118	chr7:19178075-19518160	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19183000-19185400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr7:19183200-19185200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:19183200-19185200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:19183200-19185600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:19183400-19185400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr7:19183400-19185600	Bivalent Enhancer	Fetal Brain Male	brain
7	chr7:19183600-19185600	ZNF genes & repeats	Spleen	Spleen
8	chr7:19183800-19185600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
9	chr7:19183800-19185600	Bivalent/Poised TSS	Fetal Brain Female	brain
10	chr7:19184000-19185600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
11	chr7:19184000-19186000	Bivalent Enhancer	Fetal Stomach	stomach
12	chr7:19184200-19185400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
13	chr7:19184400-19185200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
14	chr7:19184400-19185400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:19184400-19185400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:19184400-19185400	Bivalent Enhancer	Colon Smooth Muscle	Colon
17	chr7:19184400-19185600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr7:19184600-19185200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:19184600-19185200	Bivalent Enhancer	Brain Hippocampus Middle	brain
20	chr7:19184600-19185200	Bivalent Enhancer	NH-A	brain
21	chr7:19184600-19185400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
22	chr7:19184600-19185400	Bivalent/Poised TSS	Right Ventricle	heart
23	chr7:19184600-19185400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr7:19184600-19185600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
25	chr7:19184800-19185200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:19184800-19185200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
27	chr7:19184800-19185200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:19184800-19185200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr7:19184800-19185600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr7:19184800-19186000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:19185000-19185200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:19185000-19185200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
33	chr7:19185000-19185400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:19185000-19185600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
35	chr7:19185000-19185600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr7:19185000-19185600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
37	chr7:19185000-19185600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:19185000-19185800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:19185000-19185800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:19185000-19186000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr7:19185000-19186200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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