Variant report

Variant	rs73142082
Chromosome Location	chr5:94620582-94620583
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	chr5:94620542-94620620	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB7A	chr5:94620497-94621136	ECC-1	luminal epithelium:	n/a	n/a
4	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
5	MAX	chr5:94620311-94621019	A549	lung:	n/a	chr5:94620769-94620778
6	REST	chr5:94619604-94621290	H1-neurons	neurons:	n/a	chr5:94620698-94620711 chr5:94620705-94620715 chr5:94620695-94620708 chr5:94620946-94620959 chr5:94620695-94620708
7	MAX	chr5:94619429-94620977	MCF-7	breast:	n/a	chr5:94619455-94619465 chr5:94620769-94620778
8	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
9	ZNF263	chr5:94619586-94621018	K562	blood:	n/a	chr5:94620353-94620362 chr5:94619772-94619793
10	MAX	chr5:94619439-94621188	ECC-1	luminal epithelium:	n/a	chr5:94619455-94619465 chr5:94620769-94620778
11	UBTF	chr5:94620441-94620585	K562	blood:	n/a	n/a
12	MAX	chr5:94620203-94621166	H1-hESC	embryonic stem cell:	n/a	chr5:94620769-94620778
13	POLR2A	chr5:94620562-94621177	MCF-7	breast:	n/a	n/a
14	CHD1	chr5:94620443-94621239	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr5:94620465-94620926	A549	lung:	n/a	chr5:94620769-94620778
16	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
17	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
18	HDAC2	chr5:94619670-94621157	MCF-7	breast:	n/a	chr5:94620767-94620776
19	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
20	MAX	chr5:94620176-94621125	ECC-1	luminal epithelium:	n/a	chr5:94620769-94620778
21	SIN3A	chr5:94619087-94621608	H1-hESC	embryonic stem cell:	n/a	chr5:94620964-94620977 chr5:94620698-94620711
22	UBTF	chr5:94619583-94620694	K562	blood:	n/a	n/a
23	CTBP2	chr5:94619497-94621226	H1-hESC	embryonic stem cell:	n/a	n/a
24	HMGN3	chr5:94620501-94620666	K562	blood:	n/a	n/a
25	SIN3AK20	chr5:94620483-94620896	PANC-1	pancreas:	n/a	n/a
26	ZNF263	chr5:94618838-94621747	HEK293-T-REx	kidney:	n/a	chr5:94620353-94620362 chr5:94619772-94619793
27	MAX	chr5:94619441-94621195	H1-hESC	embryonic stem cell:	n/a	chr5:94619455-94619465 chr5:94620769-94620778
28	TCF12	chr5:94620362-94621029	ECC-1	luminal epithelium:	n/a	chr5:94620517-94620524 chr5:94620689-94620699
29	TCF12	chr5:94619786-94621180	ECC-1	luminal epithelium:	n/a	chr5:94620517-94620524 chr5:94620689-94620699

Variant related genes	Relation type
MCTP1	TF binding region

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

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

rs_ID	r²[population]
rs17084568	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58576599	0.91[EUR][1000 genomes]
rs58831977	1.00[EUR][1000 genomes]
rs73142086	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73142095	1.00[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:119 , 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	chr5:94618800-94620600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
4	chr5:94618800-94620600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:94618800-94620800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr5:94618800-94620800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:94618800-94620800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr5:94619000-94620600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:94619000-94620800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:94619000-94620800	Bivalent/Poised TSS	NHDF-Ad	bronchial
11	chr5:94619000-94621200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr5:94619000-94621400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
13	chr5:94619000-94621400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr5:94619200-94620600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr5:94619200-94620600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
16	chr5:94619200-94620600	Active TSS	Duodenum Mucosa	Duodenum
17	chr5:94619200-94620600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
18	chr5:94619200-94620600	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr5:94619200-94620600	Bivalent/Poised TSS	Thymus	Thymus
20	chr5:94619200-94620800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr5:94619200-94620800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:94619200-94620800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr5:94619200-94620800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
24	chr5:94619200-94621000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr5:94619200-94621200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:94619200-94621200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:94619200-94621200	Active TSS	Brain Substantia Nigra	brain
28	chr5:94619200-94621400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr5:94619200-94621400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr5:94619200-94621800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr5:94619400-94620600	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr5:94619400-94620600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr5:94619400-94620600	Active TSS	Pancreas	Pancrea
34	chr5:94619400-94620600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
35	chr5:94619400-94620600	Active TSS	HUVEC	blood vessel
36	chr5:94619400-94620800	Active TSS	Primary T cells from cord blood	blood
37	chr5:94619400-94620800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
38	chr5:94619400-94620800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
39	chr5:94619400-94620800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
40	chr5:94619400-94620800	Bivalent/Poised TSS	Small Intestine	intestine
41	chr5:94619400-94620800	Bivalent/Poised TSS	HSMM	muscle
42	chr5:94619400-94621000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:94619400-94621000	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr5:94619400-94621000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
45	chr5:94619400-94621000	Active TSS	Fetal Brain Female	brain
46	chr5:94619400-94621000	Bivalent/Poised TSS	A549	lung
47	chr5:94619400-94621000	Bivalent/Poised TSS	HepG2	liver
48	chr5:94619400-94621400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:94619400-94621400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:94619400-94621400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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