Variant report

Variant	rs568480760
Chromosome Location	chr1:85872852-85872853
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RXRA	chr1:85872768-85873521	SK-N-SH	brain:	n/a	chr1:85873385-85873404
2	EP300	chr1:85872632-85873370	SK-N-SH	brain:	n/a	chr1:85872787-85872796
3	MYC	chr1:85872796-85873213	MCF10A-Er-Src	breast:	n/a	n/a
4	JUND	chr1:85872681-85873321	SK-N-SH	brain:	n/a	chr1:85873017-85873028
5	POLR2A	chr1:85872687-85873353	HUVEC	blood vessel:	n/a	n/a
6	JUND	chr1:85872848-85873171	HepG2	liver:	n/a	chr1:85873017-85873028
7	SP1	chr1:85872709-85873293	A549	lung:	n/a	n/a
8	ESR1	chr1:85872775-85873258	ECC-1	luminal epithelium:	n/a	n/a
9	FOS	chr1:85872831-85873215	MCF10A-Er-Src	breast:	n/a	chr1:85873017-85873028
10	REST	chr1:85872841-85873156	PFSK-1	brain:	n/a	n/a
11	TCF12	chr1:85872568-85873490	SK-N-SH	brain:	n/a	n/a
12	RAD21	chr1:85872817-85873220	SK-N-SH_RA	brain:	n/a	n/a
13	TCF12	chr1:85872588-85873479	SK-N-SH	brain:	n/a	n/a
14	FOS	chr1:85872814-85873197	MCF10A-Er-Src	breast:	n/a	chr1:85873017-85873028
15	POLR2A	chr1:85872803-85873300	SK-N-SH	brain:	n/a	n/a
16	TEAD4	chr1:85872728-85873364	ECC-1	luminal epithelium:	n/a	n/a
17	REST	chr1:85872802-85873152	ECC-1	luminal epithelium:	n/a	n/a
18	GATA3	chr1:85872755-85873345	SK-N-SH	brain:	n/a	n/a
19	PBX3	chr1:85872731-85873289	SK-N-SH	brain:	n/a	chr1:85872992-85873012
20	GATA3	chr1:85872696-85873530	SK-N-SH	brain:	n/a	chr1:85872751-85872761
21	ESR1	chr1:85872793-85873242	ECC-1	luminal epithelium:	n/a	n/a
22	NFIC	chr1:85872613-85873448	SK-N-SH	brain:	n/a	n/a
23	TEAD4	chr1:85872829-85873288	HCT-116	colon:	n/a	n/a
24	RXRA	chr1:85872783-85873394	SK-N-SH	brain:	n/a	n/a
25	ESR1	chr1:85872838-85873327	ECC-1	luminal epithelium:	n/a	n/a
26	CBX3	chr1:85872768-85873303	HCT-116	colon:	n/a	n/a
27	JUND	chr1:85872684-85873398	SK-N-SH	brain:	n/a	chr1:85873017-85873028
28	NFIC	chr1:85872702-85873328	ECC-1	luminal epithelium:	n/a	n/a
29	JUN	chr1:85872762-85873222	HUVEC	blood vessel:	n/a	n/a
30	FOSL1	chr1:85872733-85873225	HCT-116	colon:	n/a	n/a
31	EP300	chr1:85872810-85873258	SK-N-SH_RA	brain:	n/a	n/a
32	JUND	chr1:85872689-85873443	SK-N-SH	brain:	n/a	chr1:85873017-85873028
33	TCF12	chr1:85872695-85873256	A549	lung:	n/a	n/a
34	EP300	chr1:85872800-85873313	SK-N-SH_RA	brain:	n/a	n/a
35	FOS	chr1:85872833-85873214	MCF10A-Er-Src	breast:	n/a	chr1:85873017-85873028
36	FOS	chr1:85872830-85873233	MCF10A-Er-Src	breast:	n/a	chr1:85873017-85873028
37	NFIC	chr1:85872749-85873347	SK-N-SH	brain:	n/a	n/a
38	TCF12	chr1:85872650-85873293	ECC-1	luminal epithelium:	n/a	n/a
39	FOSL2	chr1:85872705-85873348	A549	lung:	n/a	n/a
40	MAX	chr1:85872818-85873236	SK-N-SH	brain:	n/a	n/a
41	EP300	chr1:85872641-85873451	ECC-1	luminal epithelium:	n/a	chr1:85873403-85873417 chr1:85872787-85872796
42	JUND	chr1:85872710-85873332	HCT-116	colon:	n/a	chr1:85873017-85873028
43	FOS	chr1:85872803-85873242	HUVEC	blood vessel:	n/a	chr1:85873017-85873028
44	PBX3	chr1:85872780-85873330	SK-N-SH	brain:	n/a	chr1:85872992-85873012
45	TEAD4	chr1:85872730-85873384	SK-N-SH	brain:	n/a	n/a
46	RAD21	chr1:85872852-85873120	SK-N-SH_RA	brain:	n/a	n/a
47	NFIC	chr1:85872691-85873420	ECC-1	luminal epithelium:	n/a	n/a
48	ESR1	chr1:85872739-85873381	ECC-1	luminal epithelium:	n/a	n/a
49	FOSL2	chr1:85872762-85873240	SK-N-SH	brain:	n/a	n/a
50	REST	chr1:85872787-85873233	PFSK-1	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:85872804-85872854	LNCaP	prostate:	n/a
2	chr1:85872804-85872854	NHBE	bronchial:	n/a
3	chr1:85872804-85872854	ovcar-3	ovarian:	n/a
4	chr1:85872804-85872854	NH-A	brain:	n/a
5	chr1:85872804-85872854	AG04449	skin:	fetal
6	chr1:85872804-85872854	HRPEpiC	eye:	n/a
7	chr1:85872804-85872854	HCF	heart:	n/a
8	chr1:85872804-85872854	SK-N-SH	brain:	n/a
9	chr1:85872804-85872854	SKMC	muscle:	n/a
10	chr1:85872804-85872854	GM12891	blood:	n/a
11	chr1:85872804-85872854	NB4	blood:	n/a
12	chr1:85872804-85872854	Hela-S3	cervix:	n/a
13	chr1:85872804-85872854	HAEpiC	amniotic membrane:	n/a
14	chr1:85872804-85872854	MCF10A-Er-Src	breast:	n/a
15	chr1:85872804-85872854	HRE	kidney:	n/a
16	chr1:85872804-85872854	MCF-7	breast:	n/a
17	chr1:85872804-85872854	HCPEpiC	choroid plexus:	n/a
18	chr1:85872804-85872854	BJ	skin:	n/a
19	chr1:85872804-85872854	SAEC	small airway:	n/a
20	chr1:85872804-85872854	PrEC	prostate:	n/a
21	chr1:85872804-85872854	AoSMC	blood vessel:	n/a
22	chr1:85872804-85872854	HEEpiC	esophagus:	n/a
23	chr1:85872804-85872854	GM19239	blood:	n/a
24	chr1:85872804-85872854	HCT-116	colon:	n/a
25	chr1:85872804-85872854	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:85872804-85872854	HCM	heart:	n/a
27	chr1:85872804-85872854	CMK	blood:	n/a
28	chr1:85872804-85872854	AG09309	skin:	n/a
29	chr1:85872804-85872854	SK-N-MC	brain:	n/a
30	chr1:85872804-85872854	HIPEpiC	eye:	n/a
31	chr1:85872804-85872854	ECC-1	luminal epithelium:	n/a
32	chr1:85872804-85872854	RPTEC	kidney:	n/a
33	chr1:85872804-85872854	HL-60	blood:	n/a
34	chr1:85872804-85872854	T-47D	breast:	n/a
35	chr1:85872804-85872854	SK-N-SH_RA	brain:	n/a
36	chr1:85872804-85872854	AG10803	skin:	n/a
37	chr1:85872804-85872854	K562	blood:	n/a
38	chr1:85872804-85872854	AG04450	lung:	fetal
39	chr1:85872804-85872854	NHDF-neo	bronchial:	n/a
40	chr1:85872804-85872854	IMR90	lung:	fetal
41	chr1:85872804-85872854	HRCEpiC	kidney:	n/a
42	chr1:85872804-85872854	Caco-2	colon:	n/a
43	chr1:85872804-85872854	Hepatocyte	liver:	n/a
44	chr1:85872804-85872854	ProgFib	skin:	n/a
45	chr1:85872804-85872854	HNPCEpiC	eye:	n/a
46	chr1:85872804-85872854	A549	lung:	n/a
47	chr1:85872804-85872854	U87	brain:	n/a
48	chr1:85872804-85872854	AG09319	gingival:	n/a
49	chr1:85872804-85872854	HUVEC	blood vessel:	n/a
50	chr1:85872804-85872854	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85872823..85874492-chr1:85874813..85877121,2	MCF-7	breast:

No data

Variant related genes	Relation type
DDAH1	TF binding region
DDAH1	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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3393958	chr1:85857980-85874598	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	esv3358969	chr1:85872483-85872937	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85862200-85874600	Weak transcription	Pancreas	Pancrea
2	chr1:85864400-85873000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:85864400-85874600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:85864800-85876800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:85869200-85873200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:85869800-85874400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:85870000-85873000	Enhancers	HSMMtube	muscle
8	chr1:85870200-85874800	Enhancers	Osteobl	bone
9	chr1:85871400-85873000	Weak transcription	Brain Anterior Caudate	brain
10	chr1:85871400-85874000	Enhancers	HSMM	muscle
11	chr1:85871400-85878400	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:85871600-85873200	Weak transcription	Stomach Mucosa	stomach
13	chr1:85871600-85876600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:85871800-85873000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:85871800-85873000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:85871800-85873000	Weak transcription	Fetal Stomach	stomach
17	chr1:85871800-85873200	Weak transcription	NHLF	lung
18	chr1:85871800-85873600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:85871800-85877000	Weak transcription	Ovary	ovary
20	chr1:85872000-85877200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:85872200-85873000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:85872400-85873200	Weak transcription	Fetal Kidney	kidney
23	chr1:85872400-85873600	Flanking Active TSS	HUVEC	blood vessel
24	chr1:85872400-85874000	Enhancers	Fetal Lung	lung
25	chr1:85872600-85873000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:85872600-85873200	Active TSS	A549	lung
27	chr1:85872600-85873400	Enhancers	Adipose Nuclei	Adipose
28	chr1:85872600-85873800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:85872600-85873800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:85872600-85873800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:85872600-85874000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:85872800-85873000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr1:85872800-85873000	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr1:85872800-85873200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:85872800-85873200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:85872800-85873200	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:85872800-85873200	Enhancers	Brain Substantia Nigra	brain
38	chr1:85872800-85873200	Active TSS	Duodenum Mucosa	Duodenum
39	chr1:85872800-85873200	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr1:85872800-85873200	Active TSS	NHDF-Ad	bronchial
41	chr1:85872800-85873400	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr1:85872800-85873400	Active TSS	Aorta	Aorta
43	chr1:85872800-85873400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:85872800-85873400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr1:85872800-85873400	Flanking Active TSS	NH-A	brain
46	chr1:85872800-85873400	Flanking Active TSS	NHEK	skin
47	chr1:85872800-85873600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:85872800-85873600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:85872800-85873800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:85872800-85873800	Flanking Active TSS	Liver	Liver

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