Variant report

Variant	rs139332078
Chromosome Location	chr1:45309196-45309197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:45308607-45309334	ECC-1	luminal epithelium:	n/a	chr1:45309127-45309137
2	SIN3AK20	chr1:45308774-45309238	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr1:45308527-45309390	SK-N-MC	brain:	n/a	n/a
4	SP4	chr1:45308767-45309219	H1-hESC	embryonic stem cell:	n/a	chr1:45309050-45309066 chr1:45309048-45309064
5	MXI1	chr1:45308947-45309197	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAZ	chr1:45308302-45309299	IMR90	lung:	n/a	chr1:45309127-45309137
7	MXI1	chr1:45308757-45309199	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:45308801-45309236	K562	blood:	n/a	n/a
9	ZNF384	chr1:45308904-45309398	K562	blood:	n/a	n/a
10	TCF12	chr1:45308659-45309405	ECC-1	luminal epithelium:	n/a	n/a
11	YY1	chr1:45308742-45309198	HepG2	liver:	n/a	chr1:45308797-45308811 chr1:45309050-45309064 chr1:45308838-45308852 chr1:45309044-45309058 chr1:45309101-45309115 chr1:45309053-45309062 chr1:45308838-45308847 chr1:45309021-45309035
12	KAP1	chr1:45308846-45309395	HEK293	kidney:	n/a	n/a
13	SIN3AK20	chr1:45308967-45309206	H1-hESC	embryonic stem cell:	n/a	n/a
14	CCNT2	chr1:45308627-45309218	K562	blood:	n/a	chr1:45309053-45309062
15	PBX3	chr1:45308729-45309233	SK-N-SH	brain:	n/a	chr1:45308982-45308991
16	ZNF384	chr1:45309176-45309258	GM12878	blood:	n/a	n/a
17	EP300	chr1:45308950-45309199	SK-N-SH_RA	brain:	n/a	chr1:45309044-45309060
18	MAX	chr1:45308838-45309271	H1-hESC	embryonic stem cell:	n/a	chr1:45309127-45309137
19	MAZ	chr1:45308336-45309259	K562	blood:	n/a	chr1:45309127-45309137
20	SRF	chr1:45308675-45309196	ECC-1	luminal epithelium:	n/a	chr1:45309022-45309032
21	TEAD4	chr1:45308492-45309250	SK-N-SH	brain:	n/a	n/a
22	NFYB	chr1:45308734-45309327	K562	blood:	n/a	chr1:45308982-45308992 chr1:45308983-45308995 chr1:45308979-45308994 chr1:45308980-45308994 chr1:45308979-45308994
23	ZBTB7A	chr1:45308439-45309379	ECC-1	luminal epithelium:	n/a	n/a
24	ZBTB7A	chr1:45308426-45309248	K562	blood:	n/a	n/a
25	POLR2A	chr1:45309178-45309500	HepG2	liver:	n/a	n/a
26	MAX	chr1:45308160-45309229	K562	blood:	n/a	chr1:45309127-45309137
27	ZBTB7A	chr1:45308344-45309319	ECC-1	luminal epithelium:	n/a	n/a
28	CTBP2	chr1:45308435-45309406	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:45308226-45309261	H1-neurons	neurons:	n/a	n/a
30	GTF2F1	chr1:45309115-45309210	H1-hESC	embryonic stem cell:	n/a	n/a
31	NFIC	chr1:45308712-45309245	ECC-1	luminal epithelium:	n/a	n/a
32	ZNF263	chr1:45308242-45309495	HEK293-T-REx	kidney:	n/a	chr1:45309121-45309130 chr1:45309118-45309127 chr1:45308771-45308780
33	EP300	chr1:45308551-45309297	ECC-1	luminal epithelium:	n/a	chr1:45309044-45309060 chr1:45308791-45308807
34	POLR2A	chr1:45308602-45309230	K562	blood:	n/a	n/a
35	MAZ	chr1:45308830-45309271	HepG2	liver:	n/a	chr1:45309127-45309137
36	SRF	chr1:45308659-45309214	ECC-1	luminal epithelium:	n/a	chr1:45309022-45309032
37	MAZ	chr1:45308901-45309241	GM12878	blood:	n/a	chr1:45309127-45309137
38	POLR2A	chr1:45308597-45309229	HUVEC	blood vessel:	n/a	n/a
39	MXI1	chr1:45308141-45309564	SK-N-SH	brain:	n/a	n/a
40	SIN3A	chr1:45308331-45309252	H1-hESC	embryonic stem cell:	n/a	chr1:45308959-45308972 chr1:45308762-45308773
41	REST	chr1:45308146-45309285	H1-neurons	neurons:	n/a	chr1:45309022-45309035 chr1:45308781-45308791 chr1:45309050-45309063 chr1:45308959-45308972
42	MAX	chr1:45308777-45309203	H1-hESC	embryonic stem cell:	n/a	chr1:45309127-45309137
43	ZNF143	chr1:45308943-45309208	H1-hESC	embryonic stem cell:	n/a	chr1:45309151-45309161 chr1:45309112-45309130
44	MAX	chr1:45308592-45309218	HepG2	liver:	n/a	chr1:45309127-45309137
45	JUND	chr1:45309007-45309206	H1-hESC	embryonic stem cell:	n/a	chr1:45309057-45309066
46	CREB1	chr1:45308672-45309230	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:45308689-45309236	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:45309155-45309205	HCF	heart:	n/a
2	chr1:45309155-45309205	AG04449	skin:	fetal
3	chr1:45309155-45309205	CMK	blood:	n/a
4	chr1:45309155-45309205	U87	brain:	n/a
5	chr1:45309155-45309205	GM12892	blood:	n/a
6	chr1:45309155-45309205	PANC-1	pancreas:	n/a
7	chr1:45309155-45309205	AG09309	skin:	n/a
8	chr1:45309155-45309205	IMR90	lung:	fetal
9	chr1:45309155-45309205	HNPCEpiC	eye:	n/a
10	chr1:45309155-45309205	ProgFib	skin:	n/a
11	chr1:45309155-45309205	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:45309155-45309205	HIPEpiC	eye:	n/a
13	chr1:45309155-45309205	HepG2	liver:	n/a
14	chr1:45309155-45309205	SK-N-MC	brain:	n/a
15	chr1:45309155-45309205	T-47D	breast:	n/a
16	chr1:45309155-45309205	SK-N-SH	brain:	n/a
17	chr1:45309155-45309205	AoSMC	blood vessel:	n/a
18	chr1:45309155-45309205	HRCEpiC	kidney:	n/a
19	chr1:45309155-45309205	HEK293	kidney:	embryo
20	chr1:45309155-45309205	NH-A	brain:	n/a
21	chr1:45309155-45309205	K562	blood:	n/a
22	chr1:45309155-45309205	Hela-S3	cervix:	n/a
23	chr1:45309155-45309205	HAEpiC	amniotic membrane:	n/a
24	chr1:45309155-45309205	AG09319	gingival:	n/a
25	chr1:45309155-45309205	HMEC	breast:	n/a
26	chr1:45309155-45309205	ovcar-3	ovarian:	n/a
27	chr1:45309155-45309205	BJ	skin:	n/a
28	chr1:45309155-45309205	HEEpiC	esophagus:	n/a
29	chr1:45309155-45309205	SAEC	small airway:	n/a
30	chr1:45309155-45309205	GM19239	blood:	n/a
31	chr1:45309155-45309205	HRPEpiC	eye:	n/a
32	chr1:45309155-45309205	HCT-116	colon:	n/a
33	chr1:45309155-45309205	RPTEC	kidney:	n/a
34	chr1:45309155-45309205	HCPEpiC	choroid plexus:	n/a
35	chr1:45309155-45309205	SKMC	muscle:	n/a
36	chr1:45309155-45309205	NT2-D1	testis:	n/a
37	chr1:45309155-45309205	PrEC	prostate:	n/a
38	chr1:45309155-45309205	AG04450	lung:	fetal
39	chr1:45309155-45309205	H1-hESC	embryonic stem cell:	embryo
40	chr1:45309155-45309205	GM12891	blood:	n/a
41	chr1:45309155-45309205	LNCaP	prostate:	n/a
42	chr1:45309155-45309205	Hepatocyte	liver:	n/a
43	chr1:45309155-45309205	Caco-2	colon:	n/a
44	chr1:45309155-45309205	MCF-7	breast:	n/a
45	chr1:45309155-45309205	NB4	blood:	n/a
46	chr1:45309155-45309205	ECC-1	luminal epithelium:	n/a
47	chr1:45309155-45309205	SK-N-SH_RA	brain:	n/a
48	chr1:45309155-45309205	HUVEC	blood vessel:	n/a
49	chr1:45309155-45309205	Jurkat	blood:	n/a
50	chr1:45309155-45309205	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45306981..45310503-chr1:45474976..45481200,7	K562	blood:
2	chr1:45224240..45226290-chr1:45308445..45310205,2	K562	blood:
3	chr1:45305082..45310090-chr1:45475264..45482808,8	K562	blood:
4	chr1:45307699..45310286-chr1:45986112..45988725,2	K562	blood:
5	chr1:45185746..45188870-chr1:45307191..45310438,4	K562	blood:

Variant related genes	Relation type
PTCH2	TF binding region
PTCH2	CpG island
ENSG00000126107	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000126088	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
3	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
4	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
5	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
6	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
7	nsv870815	chr1:45233638-45318752	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
8	nsv546146	chr1:45258141-45318752	Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	109 gene(s)	inside rSNPs	diseases
9	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak 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 target site	98 gene(s)	inside rSNPs	diseases
10	nsv945913	chr1:45308885-45310435	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45307600-45309400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:45307600-45309400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:45307800-45309200	Active TSS	Fetal Stomach	stomach
4	chr1:45307800-45309200	Active TSS	Ovary	ovary
5	chr1:45307800-45309400	Active TSS	Fetal Kidney	kidney
6	chr1:45308000-45309200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:45308000-45309200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:45308000-45309400	Active TSS	Brain Cingulate Gyrus	brain
9	chr1:45308200-45309200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:45308200-45309200	Active TSS	Primary T cells from cord blood	blood
11	chr1:45308200-45309400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:45308200-45309400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:45308200-45309400	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr1:45308200-45309400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:45308200-45309400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:45308200-45309400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr1:45308200-45309400	Active TSS	NHLF	lung
18	chr1:45308200-45309600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr1:45308400-45309200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr1:45308400-45309200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:45308400-45309200	Active TSS	Aorta	Aorta
22	chr1:45308400-45309200	Active TSS	Left Ventricle	heart
23	chr1:45308400-45309200	Active TSS	HMEC	breast
24	chr1:45308400-45309400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr1:45308400-45309400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:45308400-45309400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr1:45308400-45309400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
28	chr1:45308400-45309400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:45308400-45309400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr1:45308400-45309400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:45308400-45309400	Active TSS	Brain Angular Gyrus	brain
32	chr1:45308400-45309400	Active TSS	Colon Smooth Muscle	Colon
33	chr1:45308400-45309400	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr1:45308400-45309400	Active TSS	Fetal Intestine Large	intestine
35	chr1:45308400-45309400	Active TSS	Rectal Smooth Muscle	rectum
36	chr1:45308400-45309400	Active TSS	Right Atrium	heart
37	chr1:45308400-45309400	Active TSS	A549	lung
38	chr1:45308400-45309600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr1:45308400-45309600	Enhancers	Fetal Heart	heart
40	chr1:45308600-45309200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:45308600-45309200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:45308600-45309200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:45308600-45309200	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr1:45308600-45309200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr1:45308600-45309200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:45308600-45309200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr1:45308600-45309200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:45308600-45309200	Active TSS	Brain Anterior Caudate	brain
49	chr1:45308600-45309200	Active TSS	Brain Hippocampus Middle	brain
50	chr1:45308600-45309200	Active TSS	Fetal Lung	lung

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