Variant report

Variant	rs567175830
Chromosome Location	chr1:155145626-155145627
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:382)
CpG islands
(count:61)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr1:155145610-155146029	K562	blood:	n/a	n/a
2	EP300	chr1:155145563-155146245	A549	lung:	n/a	n/a
3	CTBP2	chr1:155145250-155147768	H1-hESC	embryonic stem cell:	n/a	n/a
4	POU2F2	chr1:155145541-155145973	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:155145163-155146432	GM19099	blood:	n/a	n/a
6	POLR2A	chr1:155145530-155145908	HepG2	liver:	n/a	n/a
7	TCF7L2	chr1:155145584-155145955	Hela-S3	cervix:	n/a	n/a
8	RELA	chr1:155145573-155146046	GM19099	blood:	n/a	n/a
9	RELA	chr1:155145465-155146368	GM10847	blood:	n/a	n/a
10	ZBTB7A	chr1:155145335-155147406	ECC-1	luminal epithelium:	n/a	chr1:155147194-155147203
11	STAT1	chr1:155145510-155146044	GM12878	blood:	n/a	n/a
12	ZBTB7A	chr1:155145254-155146084	ECC-1	luminal epithelium:	n/a	n/a
13	HDAC2	chr1:155145460-155145981	HepG2	liver:	n/a	n/a
14	CTCF	chr1:155145534-155146198	MCF-7	breast:	n/a	n/a
15	TCF12	chr1:155145336-155146103	ECC-1	luminal epithelium:	n/a	n/a
16	BHLHE40	chr1:155145552-155146004	GM12878	blood:	n/a	n/a
17	RCOR1	chr1:155145550-155146248	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:155145201-155145992	K562	blood:	n/a	n/a
19	MXI1	chr1:155145121-155146368	GM12878	blood:	n/a	chr1:155146252-155146261 chr1:155146254-155146263
20	POLR2A	chr1:155145009-155146049	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr1:155145092-155145927	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr1:155145011-155146629	A549	lung:	n/a	n/a
23	ATF3	chr1:155145535-155146066	A549	lung:	n/a	n/a
24	POLR2A	chr1:155144892-155146732	U87	brain:	n/a	n/a
25	REST	chr1:155145211-155147210	H1-neurons	neurons:	n/a	chr1:155146997-155147010 chr1:155146997-155147010
26	POLR2A	chr1:155145179-155146092	GM12878	blood:	n/a	n/a
27	TAF1	chr1:155145551-155145873	GM12891	blood:	n/a	n/a
28	POLR2A	chr1:155145173-155146048	GM15510	blood:	n/a	n/a
29	POLR2A	chr1:155145164-155145958	GM19193	blood:	n/a	n/a
30	POLR2A	chr1:155145166-155145981	K562	blood:	n/a	n/a
31	POLR2A	chr1:155145497-155145935	GM10847	blood:	n/a	n/a
32	USF1	chr1:155145502-155146460	SK-N-SH	brain:	n/a	n/a
33	TBP	chr1:155145153-155146023	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr1:155145577-155146172	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:155144879-155146055	HUVEC	blood vessel:	n/a	n/a
36	ELF1	chr1:155145395-155146036	HepG2	liver:	n/a	n/a
37	MAX	chr1:155145489-155146379	H1-hESC	embryonic stem cell:	n/a	chr1:155146251-155146266 chr1:155146252-155146262 chr1:155146252-155146261 chr1:155146253-155146262 chr1:155146253-155146263
38	POLR2A	chr1:155145075-155146056	A549	lung:	n/a	n/a
39	POLR2A	chr1:155145051-155146060	GM12892	blood:	n/a	n/a
40	NFIC	chr1:155145511-155146323	GM12878	blood:	n/a	n/a
41	SIN3A	chr1:155145086-155147719	H1-hESC	embryonic stem cell:	n/a	n/a
42	BCL3	chr1:155145521-155146126	A549	lung:	n/a	n/a
43	POLR2A	chr1:155145129-155146073	GM18951	blood:	n/a	n/a
44	SIX5	chr1:155145072-155146341	A549	lung:	n/a	n/a
45	ELK1	chr1:155145326-155145911	K562	blood:	n/a	n/a
46	CCNT2	chr1:155145162-155145953	K562	blood:	n/a	n/a
47	POLR2A	chr1:155145214-155145973	MCF-7	breast:	n/a	n/a
48	MYC	chr1:155145492-155146062	HUVEC	blood vessel:	n/a	n/a
49	SP2	chr1:155145613-155146050	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr1:155145534-155146381	GM12878	blood:	n/a	chr1:155146251-155146266 chr1:155146252-155146262 chr1:155146252-155146261 chr1:155146253-155146262 chr1:155146253-155146263

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155145617-155145667	ovcar-3	ovarian:	n/a
2	chr1:155145617-155145667	BE2_C	brain:	n/a
3	chr1:155145617-155145667	AG04449	skin:	fetal
4	chr1:155145617-155145667	Hela-S3	cervix:	n/a
5	chr1:155145617-155145667	NT2-D1	testis:	n/a
6	chr1:155145617-155145667	HUVEC	blood vessel:	n/a
7	chr1:155145617-155145667	HIPEpiC	eye:	n/a
8	chr1:155145617-155145667	Caco-2	colon:	n/a
9	chr1:155145617-155145667	HCT-116	colon:	n/a
10	chr1:155145617-155145667	MCF10A-Er-Src	breast:	n/a
11	chr1:155145617-155145667	HAEpiC	amniotic membrane:	n/a
12	chr1:155145617-155145667	AG04450	lung:	fetal
13	chr1:155145617-155145667	K562	blood:	n/a
14	chr1:155145617-155145667	NHBE	bronchial:	n/a
15	chr1:155145617-155145667	NH-A	brain:	n/a
16	chr1:155145617-155145667	GM19239	blood:	n/a
17	chr1:155145617-155145667	MCF-7	breast:	n/a
18	chr1:155145617-155145667	PANC-1	pancreas:	n/a
19	chr1:155145617-155145667	HRCEpiC	kidney:	n/a
20	chr1:155145617-155145667	HCF	heart:	n/a
21	chr1:155145617-155145667	H1-hESC	embryonic stem cell:	embryo
22	chr1:155145617-155145667	SKMC	muscle:	n/a
23	chr1:155145617-155145667	HEEpiC	esophagus:	n/a
24	chr1:155145617-155145667	AG09319	gingival:	n/a
25	chr1:155145617-155145667	AG09309	skin:	n/a
26	chr1:155145617-155145667	HMEC	breast:	n/a
27	chr1:155145617-155145667	CMK	blood:	n/a
28	chr1:155145617-155145667	NB4	blood:	n/a
29	chr1:155145617-155145667	GM06990	blood:	n/a
30	chr1:155145617-155145667	LNCaP	prostate:	n/a
31	chr1:155145617-155145667	PrEC	prostate:	n/a
32	chr1:155145617-155145667	BJ	skin:	n/a
33	chr1:155145617-155145667	Hepatocyte	liver:	n/a
34	chr1:155145617-155145667	HL-60	blood:	n/a
35	chr1:155145617-155145667	SAEC	small airway:	n/a
36	chr1:155145617-155145667	HPAEpiC	pulmonary alveolar:	n/a
37	chr1:155145617-155145667	GM12892	blood:	n/a
38	chr1:155145617-155145667	A549	lung:	n/a
39	chr1:155145617-155145667	HCPEpiC	choroid plexus:	n/a
40	chr1:155145617-155145667	SK-N-SH	brain:	n/a
41	chr1:155145617-155145667	IMR90	lung:	fetal
42	chr1:155145617-155145667	HCM	heart:	n/a
43	chr1:155145617-155145667	HepG2	liver:	n/a
44	chr1:155145617-155145667	HEK293	kidney:	embryo
45	chr1:155145617-155145667	T-47D	breast:	n/a
46	chr1:155145617-155145667	PFSK-1	brain:	n/a
47	chr1:155145617-155145667	ProgFib	skin:	n/a
48	chr1:155145617-155145667	Jurkat	blood:	n/a
49	chr1:155145617-155145667	GM12878	blood:	n/a
50	chr1:155145617-155145667	ECC-1	luminal epithelium:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155107108..155109934-chr1:155145596..155147858,3	K562	blood:
2	chr1:155102095..155105261-chr1:155144437..155147447,3	K562	blood:
3	chr1:155056284..155060443-chr1:155143066..155147437,8	MCF-7	breast:
4	chr1:155143901..155153030-chr1:155191166..155199183,23	MCF-7	breast:
5	chr1:155056491..155066482-chr1:155136760..155147519,21	K562	blood:
6	chr1:155144108..155147671-chr1:155293137..155296373,4	MCF-7	breast:
7	chr1:155050575..155052612-chr1:155144958..155146789,2	MCF-7	breast:
8	chr1:155095314..155110392-chr1:155134312..155151496,72	MCF-7	breast:
9	chr1:155145241..155146117-chr6:32939671..32940179,2	HCT-116	colon:
10	chr1:155056751..155059603-chr1:155143653..155146036,8	MCF-7	breast:
11	chr1:155021786..155024285-chr1:155144264..155145774,2	MCF-7	breast:
12	chr1:155055553..155060043-chr1:155139937..155145817,8	K562	blood:
13	chr1:155145241..155146055-chr1:249119766..249120747,2	Hela-S3	cervix:
14	chr1:155143848..155145847-chr1:155292739..155294361,2	K562	blood:
15	chr1:155105664..155110180-chr1:155143584..155151850,15	MCF-7	breast:
16	chr1:155107108..155109985-chr1:155144527..155147858,5	K562	blood:
17	chr1:155144509..155147724-chr1:155241916..155244574,3	MCF-7	breast:
18	chr1:155021809..155025289-chr1:155144477..155147497,3	K562	blood:
19	chr1:155094769..155105017-chr1:155135344..155151845,46	MCF-7	breast:
20	chr1:155145599..155146324-chr1:155292767..155293691,4	K562	blood:
21	chr1:155145257..155146073-chr20:43882743..43883438,2	Hela-S3	cervix:
22	chr1:155144282..155146428-chr1:155196994..155199261,3	K562	blood:
23	chr1:155015970..155018698-chr1:155144403..155146699,2	K562	blood:

No data

Variant related genes	Relation type
TRIM46	TF binding region
KRTCAP2	TF binding region
KRTCAP2	CpG island
TRIM46	CpG island
ENSG00000143590	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000264500	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000124107	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000232093	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000175137	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
4	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
5	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
6	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
7	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
8	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
9	nsv1010146	chr1:155119096-155201064	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
11	nsv8447	chr1:155144629-155156937	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155144600-155146000	Active TSS	HSMMtube	muscle
2	chr1:155144600-155146200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:155144600-155147600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:155144800-155145800	Active TSS	Psoas Muscle	Psoas
5	chr1:155144800-155146000	Active TSS	Colon Smooth Muscle	Colon
6	chr1:155144800-155147200	Active TSS	HSMM	muscle
7	chr1:155144800-155147400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr1:155144800-155147600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:155144800-155147800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr1:155144800-155147800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:155145000-155145800	Active TSS	Lung	lung
12	chr1:155145000-155145800	Active TSS	Ovary	ovary
13	chr1:155145000-155145800	Active TSS	Right Ventricle	heart
14	chr1:155145000-155145800	Active TSS	Small Intestine	intestine
15	chr1:155145000-155145800	Active TSS	K562	blood
16	chr1:155145000-155146200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:155145000-155146200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:155145000-155146400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:155145000-155146400	Active TSS	NHDF-Ad	bronchial
20	chr1:155145000-155146600	Active TSS	Aorta	Aorta
21	chr1:155145000-155146800	Active TSS	Esophagus	oesophagus
22	chr1:155145000-155146800	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr1:155145000-155146800	Active TSS	A549	lung
24	chr1:155145000-155146800	Active TSS	NHLF	lung
25	chr1:155145000-155147200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:155145000-155147200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:155145000-155147400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:155145000-155147400	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr1:155145000-155147400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:155145000-155147600	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr1:155145000-155147600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:155145000-155147600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:155145000-155147800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:155145000-155147800	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr1:155145000-155147800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:155145000-155147800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr1:155145000-155148000	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr1:155145000-155148000	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:155145200-155145800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:155145200-155145800	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr1:155145200-155145800	Active TSS	Muscle Satellite Cultured Cells	--
42	chr1:155145200-155145800	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr1:155145200-155145800	Active TSS	Duodenum Mucosa	Duodenum
44	chr1:155145200-155145800	Active TSS	Fetal Heart	heart
45	chr1:155145200-155145800	Active TSS	Fetal Intestine Small	intestine
46	chr1:155145200-155145800	Active TSS	Fetal Kidney	kidney
47	chr1:155145200-155145800	Active TSS	Placenta	Placenta
48	chr1:155145200-155145800	Active TSS	Left Ventricle	heart
49	chr1:155145200-155145800	Active TSS	Placenta Amnion	Placenta Amnion
50	chr1:155145200-155145800	Active TSS	Rectal Mucosa Donor 29	rectum

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