Variant report

Variant	rs73142086
Chromosome Location	chr5:94620945-94620946
allele	C/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	NFIC	chr5:94620555-94621296	ECC-1	luminal epithelium:	n/a	n/a
2	RAD21	chr5:94620869-94621214	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr5:94620847-94621161	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr5:94620945-94621121	GM12891	blood:	n/a	n/a
5	POLR2A	chr5:94620856-94621097	HUVEC	blood vessel:	n/a	n/a
6	RAD21	chr5:94620845-94621232	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZBTB7A	chr5:94620497-94621136	ECC-1	luminal epithelium:	n/a	n/a
8	RAD21	chr5:94620705-94621277	ECC-1	luminal epithelium:	n/a	chr5:94620712-94620724
9	CTCF	chr5:94620889-94621144	MCF-7	breast:	n/a	n/a
10	RAD21	chr5:94620920-94621134	SK-N-SH_RA	brain:	n/a	n/a
11	EGR1	chr5:94620453-94621139	HCT-116	colon:	n/a	chr5:94621102-94621115 chr5:94620741-94620750 chr5:94620678-94620687 chr5:94620741-94620751 chr5:94620767-94620776 chr5:94620738-94620751 chr5:94620738-94620751
12	TCF7L2	chr5:94620748-94621648	PANC-1	pancreas:	n/a	chr5:94621311-94621320 chr5:94621308-94621324
13	MAX	chr5:94620311-94621019	A549	lung:	n/a	chr5:94620769-94620778
14	REST	chr5:94619604-94621290	H1-neurons	neurons:	n/a	chr5:94620698-94620711 chr5:94620705-94620715 chr5:94620695-94620708 chr5:94620946-94620959 chr5:94620695-94620708
15	CTCF	chr5:94620920-94621070	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr5:94620916-94621149	LNCaP	prostate:	n/a	n/a
17	MAX	chr5:94619429-94620977	MCF-7	breast:	n/a	chr5:94619455-94619465 chr5:94620769-94620778
18	E2F6	chr5:94620335-94620997	H1-hESC	embryonic stem cell:	n/a	chr5:94620762-94620777 chr5:94620464-94620474 chr5:94620741-94620751 chr5:94620744-94620754 chr5:94620561-94620571
19	ZNF263	chr5:94619586-94621018	K562	blood:	n/a	chr5:94620353-94620362 chr5:94619772-94619793
20	MAX	chr5:94619439-94621188	ECC-1	luminal epithelium:	n/a	chr5:94619455-94619465 chr5:94620769-94620778
21	CTCF	chr5:94620898-94621141	MCF-7	breast:	n/a	n/a
22	MAX	chr5:94620203-94621166	H1-hESC	embryonic stem cell:	n/a	chr5:94620769-94620778
23	POLR2A	chr5:94620562-94621177	MCF-7	breast:	n/a	n/a
24	CHD1	chr5:94620443-94621239	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr5:94620940-94621090	GM12865	blood:	n/a	n/a
26	CTCF	chr5:94620900-94621050	HUVEC	blood vessel:	n/a	n/a
27	EGR1	chr5:94620535-94620966	HCT-116	colon:	n/a	chr5:94620741-94620750 chr5:94620678-94620687 chr5:94620741-94620751 chr5:94620767-94620776 chr5:94620738-94620751 chr5:94620738-94620751
28	E2F6	chr5:94620180-94621200	H1-hESC	embryonic stem cell:	n/a	chr5:94620762-94620777 chr5:94620464-94620474 chr5:94620741-94620751 chr5:94620744-94620754 chr5:94620561-94620571
29	HDAC2	chr5:94619670-94621157	MCF-7	breast:	n/a	chr5:94620767-94620776
30	POLR2A	chr5:94620782-94621050	MCF-7	breast:	n/a	n/a
31	EP300	chr5:94620024-94621029	ECC-1	luminal epithelium:	n/a	chr5:94620522-94620538 chr5:94620464-94620473 chr5:94620729-94620745 chr5:94620725-94620741 chr5:94620467-94620476 chr5:94620555-94620571 chr5:94620461-94620470
32	MAX	chr5:94620176-94621125	ECC-1	luminal epithelium:	n/a	chr5:94620769-94620778
33	BACH1	chr5:94620929-94621103	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr5:94620871-94621017	ProgFib	skin:	n/a	n/a
35	CTCF	chr5:94620880-94621030	GM12871	blood:	n/a	n/a
36	NFIC	chr5:94620632-94621219	ECC-1	luminal epithelium:	n/a	n/a
37	SIN3A	chr5:94619087-94621608	H1-hESC	embryonic stem cell:	n/a	chr5:94620964-94620977 chr5:94620698-94620711
38	CTCF	chr5:94620939-94621121	A549	lung:	n/a	n/a
39	MYC	chr5:94620626-94621044	MCF-7	breast:	n/a	chr5:94620769-94620778
40	CTBP2	chr5:94619497-94621226	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr5:94620940-94621117	LNCaP	prostate:	n/a	n/a
42	RAD21	chr5:94620698-94621304	H1-hESC	embryonic stem cell:	n/a	chr5:94620712-94620724
43	CTCF	chr5:94620920-94621070	Caco-2	colon:	n/a	n/a
44	TBP	chr5:94620844-94621370	H1-hESC	embryonic stem cell:	n/a	n/a
45	ZNF263	chr5:94618838-94621747	HEK293-T-REx	kidney:	n/a	chr5:94620353-94620362 chr5:94619772-94619793
46	MAX	chr5:94619441-94621195	H1-hESC	embryonic stem cell:	n/a	chr5:94619455-94619465 chr5:94620769-94620778
47	CTCF	chr5:94620900-94621050	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr5:94620920-94621115	GM10248	blood:	n/a	n/a
49	TCF12	chr5:94620362-94621029	ECC-1	luminal epithelium:	n/a	chr5:94620517-94620524 chr5:94620689-94620699
50	CTCF	chr5:94620909-94621111	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:94620929-94620979	HIPEpiC	eye:	n/a
2	chr5:94620929-94620979	NT2-D1	testis:	n/a
3	chr5:94620929-94620979	GM19239	blood:	n/a
4	chr5:94620929-94620979	PFSK-1	brain:	n/a
5	chr5:94620929-94620979	GM12892	blood:	n/a
6	chr5:94620929-94620979	HCT-116	colon:	n/a
7	chr5:94620929-94620979	Jurkat	blood:	n/a
8	chr5:94620929-94620979	HMEC	breast:	n/a
9	chr5:94620929-94620979	Hela-S3	cervix:	n/a
10	chr5:94620929-94620979	Hepatocyte	liver:	n/a
11	chr5:94620929-94620979	AG04450	lung:	fetal
12	chr5:94620929-94620979	SK-N-SH	brain:	n/a
13	chr5:94620929-94620979	MCF10A-Er-Src	breast:	n/a
14	chr5:94620929-94620979	HCF	heart:	n/a
15	chr5:94620929-94620979	NB4	blood:	n/a
16	chr5:94620929-94620979	AG04449	skin:	fetal
17	chr5:94620929-94620979	NHDF-neo	bronchial:	n/a
18	chr5:94620929-94620979	ProgFib	skin:	n/a
19	chr5:94620929-94620979	HL-60	blood:	n/a
20	chr5:94620929-94620979	AoSMC	blood vessel:	n/a
21	chr5:94620929-94620979	GM12891	blood:	n/a
22	chr5:94620929-94620979	NH-A	brain:	n/a
23	chr5:94620929-94620979	U87	brain:	n/a
24	chr5:94620929-94620979	HAEpiC	amniotic membrane:	n/a
25	chr5:94620929-94620979	NHBE	bronchial:	n/a
26	chr5:94620929-94620979	LNCaP	prostate:	n/a
27	chr5:94620929-94620979	ovcar-3	ovarian:	n/a
28	chr5:94620929-94620979	AG10803	skin:	n/a
29	chr5:94620929-94620979	HNPCEpiC	eye:	n/a
30	chr5:94620929-94620979	BE2_C	brain:	n/a
31	chr5:94620929-94620979	HEK293	kidney:	embryo
32	chr5:94620929-94620979	SK-N-SH_RA	brain:	n/a
33	chr5:94620929-94620979	K562	blood:	n/a
34	chr5:94620929-94620979	GM06990	blood:	n/a
35	chr5:94620929-94620979	T-47D	breast:	n/a
36	chr5:94620929-94620979	SKMC	muscle:	n/a
37	chr5:94620929-94620979	HEEpiC	esophagus:	n/a
38	chr5:94620929-94620979	RPTEC	kidney:	n/a
39	chr5:94620929-94620979	SK-N-MC	brain:	n/a
40	chr5:94620929-94620979	GM12878	blood:	n/a
41	chr5:94620929-94620979	HepG2	liver:	n/a
42	chr5:94620929-94620979	AG09309	skin:	n/a
43	chr5:94620929-94620979	HRPEpiC	eye:	n/a
44	chr5:94620929-94620979	HRE	kidney:	n/a
45	chr5:94620929-94620979	A549	lung:	n/a
46	chr5:94620929-94620979	Caco-2	colon:	n/a
47	chr5:94620929-94620979	AG09319	gingival:	n/a
48	chr5:94620929-94620979	CMK	blood:	n/a
49	chr5:94620929-94620979	PrEC	prostate:	n/a
50	chr5:94620929-94620979	SAEC	small airway:	n/a

Variant related genes	Relation type
MCTP1	TF binding region
MCTP1	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17084568	0.91[EUR][1000 genomes]
rs58576599	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58831977	0.91[EUR][1000 genomes]
rs73142082	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73142095	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432752	chr5:94524244-94691044	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv3341897	chr5:94618421-94620969	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
3	esv3408932	chr5:94619021-94621569	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 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	chr5:94618400-94621200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:94618600-94621600	Active TSS	Brain Angular Gyrus	brain
3	chr5:94619000-94621200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr5:94619000-94621400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
5	chr5:94619000-94621400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr5:94619200-94621000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:94619200-94621200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:94619200-94621200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:94619200-94621200	Active TSS	Brain Substantia Nigra	brain
10	chr5:94619200-94621400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr5:94619200-94621400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr5:94619200-94621800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr5:94619400-94621000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:94619400-94621000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr5:94619400-94621000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
16	chr5:94619400-94621000	Active TSS	Fetal Brain Female	brain
17	chr5:94619400-94621000	Bivalent/Poised TSS	A549	lung
18	chr5:94619400-94621000	Bivalent/Poised TSS	HepG2	liver
19	chr5:94619400-94621400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:94619400-94621400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:94619400-94621400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:94619400-94621400	Active TSS	Aorta	Aorta
23	chr5:94619400-94621600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:94619400-94621800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr5:94619600-94621000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:94619600-94621000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr5:94619600-94621000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
28	chr5:94619600-94621000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
29	chr5:94619600-94621000	Bivalent/Poised TSS	GM12878-XiMat	blood
30	chr5:94619600-94621200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:94619600-94621200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
32	chr5:94619600-94621200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr5:94619600-94621200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
34	chr5:94619600-94621400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:94619600-94621400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:94619600-94621400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:94619600-94621400	Bivalent/Poised TSS	HSMMtube	muscle
38	chr5:94619600-94621400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
39	chr5:94619600-94621600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:94620000-94621200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
41	chr5:94620000-94621200	Active TSS	Hela-S3	cervix
42	chr5:94620000-94621800	Active TSS	Right Atrium	heart
43	chr5:94620400-94621000	Flanking Bivalent TSS/Enh	Osteobl	bone
44	chr5:94620400-94621200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:94620400-94621200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:94620400-94621200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr5:94620400-94621200	Flanking Bivalent TSS/Enh	Placenta	Placenta
48	chr5:94620400-94621200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
49	chr5:94620400-94621200	Flanking Bivalent TSS/Enh	HMEC	breast
50	chr5:94620400-94621400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus

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