Variant report

Variant	rs62078142
Chromosome Location	chr17:33787854-33787855
allele	C/T
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	TCF12	chr17:33787645-33787871	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr17:33787335-33787991	GM19193	blood:	n/a	n/a
3	RUNX3	chr17:33787377-33787941	GM12878	blood:	n/a	n/a
4	MAX	chr17:33787545-33787970	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr17:33787554-33787966	GM12878	blood:	n/a	n/a
6	MAX	chr17:33787348-33788062	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr17:33787760-33787910	GM12878	blood:	n/a	n/a
8	CREB1	chr17:33787365-33787957	GM12878	blood:	n/a	n/a
9	E2F6	chr17:33787327-33787888	H1-hESC	embryonic stem cell:	n/a	n/a
10	RUNX3	chr17:33787435-33787944	GM12878	blood:	n/a	n/a
11	POLR2A	chr17:33787308-33787895	GM12892	blood:	n/a	n/a
12	TBP	chr17:33787535-33787899	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr17:33787552-33787976	GM12878	blood:	n/a	n/a
14	E2F6	chr17:33787407-33788042	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr17:33787405-33787902	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr17:33787382-33788006	GM18951	blood:	n/a	n/a
17	POLR2A	chr17:33787445-33787987	GM15510	blood:	n/a	n/a
18	EBF1	chr17:33787683-33787964	GM12878	blood:	n/a	n/a
19	MXI1	chr17:33787703-33787918	GM12878	blood:	n/a	n/a
20	POLR2A	chr17:33787718-33787878	Gliobla	brain:	n/a	n/a
21	MAZ	chr17:33787489-33787997	GM12878	blood:	n/a	n/a
22	POLR2A	chr17:33787376-33787923	GM12878	blood:	n/a	n/a
23	POLR2A	chr17:33787694-33787983	GM12892	blood:	n/a	n/a
24	NFIC	chr17:33787398-33788013	ECC-1	luminal epithelium:	n/a	n/a
25	MAX	chr17:33787399-33787924	H1-hESC	embryonic stem cell:	n/a	n/a
26	SMC3	chr17:33787478-33787909	GM12878	blood:	n/a	n/a
27	POLR2A	chr17:33787352-33787920	GM12878	blood:	n/a	n/a
28	SIN3A	chr17:33787604-33787967	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr17:33787396-33787892	GM12878	blood:	n/a	n/a
30	MAX	chr17:33787280-33787912	GM12878	blood:	n/a	n/a
31	EGR1	chr17:33787421-33787912	H1-hESC	embryonic stem cell:	n/a	chr17:33787689-33787703 chr17:33787656-33787670
32	TCF3	chr17:33787438-33787976	GM12878	blood:	n/a	chr17:33787784-33787798
33	MXI1	chr17:33787633-33787982	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr17:33787351-33788073	ECC-1	luminal epithelium:	n/a	n/a
35	ELF1	chr17:33787290-33787902	GM12878	blood:	n/a	n/a
36	TCF3	chr17:33787678-33787883	GM12878	blood:	n/a	chr17:33787784-33787798
37	TCF12	chr17:33787451-33787892	GM12878	blood:	n/a	n/a
38	CHD2	chr17:33787599-33787927	H1-hESC	embryonic stem cell:	n/a	n/a
39	E2F6	chr17:33787571-33787867	K562	blood:	n/a	n/a
40	PAX5	chr17:33787387-33787857	GM12892	blood:	n/a	n/a
41	CTCF	chr17:33787600-33787890	GM12874	blood:	n/a	n/a
42	POLR2A	chr17:33787292-33788066	GM12892	blood:	n/a	n/a
43	EBF1	chr17:33787345-33787899	GM12878	blood:	n/a	n/a
44	EGR1	chr17:33787501-33787867	K562	blood:	n/a	chr17:33787689-33787703 chr17:33787656-33787670
45	TBL1XR1	chr17:33787468-33788102	GM12878	blood:	n/a	n/a
46	ZEB1	chr17:33787352-33787885	GM12878	blood:	n/a	n/a
47	EGR1	chr17:33787515-33788028	HCT-116	colon:	n/a	chr17:33787689-33787703 chr17:33787656-33787670

Variant related genes	Relation type
ENSG00000267312	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12450604	0.84[EUR][1000 genomes]
rs12451141	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12451679	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12453650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16970988	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971025	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62078109	0.83[EUR][1000 genomes]
rs62078141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62078145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62078151	0.91[EUR][1000 genomes]
rs62078154	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7225005	0.81[EUR][1000 genomes]
rs72483216	0.84[EUR][1000 genomes]
rs8065626	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv574741	chr17:33552275-33827134	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv1056116	chr17:33691457-33815452	Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3432530	chr17:33738621-33802241	Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33776800-33790400	Weak transcription	Dnd41	blood
2	chr17:33786800-33788200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr17:33787000-33788000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr17:33787000-33788000	Active TSS	Primary T cells from cord blood	blood
5	chr17:33787000-33788800	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr17:33787200-33788000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr17:33787200-33788000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr17:33787200-33788000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr17:33787200-33788000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr17:33787200-33788000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:33787200-33788000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
12	chr17:33787200-33788000	Active TSS	Colonic Mucosa	Colon
13	chr17:33787200-33788000	Active TSS	Colon Smooth Muscle	Colon
14	chr17:33787200-33788000	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr17:33787200-33788000	Active TSS	Rectal Smooth Muscle	rectum
16	chr17:33787200-33788000	Active TSS	GM12878-XiMat	blood
17	chr17:33787200-33788200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr17:33787200-33788200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr17:33787200-33788200	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr17:33787200-33788200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr17:33787200-33788200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr17:33787200-33788200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:33787200-33788400	Enhancers	Primary hematopoietic stem cells	blood
24	chr17:33787200-33788600	Enhancers	Stomach Mucosa	stomach
25	chr17:33787400-33788000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:33787400-33788000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr17:33787400-33788000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:33787400-33788000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr17:33787400-33788000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr17:33787400-33788000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr17:33787400-33788000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:33787400-33788000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr17:33787400-33788000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr17:33787400-33788000	Bivalent/Poised TSS	Fetal Kidney	kidney
35	chr17:33787400-33788000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
36	chr17:33787400-33788000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
37	chr17:33787400-33788000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
38	chr17:33787400-33788000	Active TSS	Hela-S3	cervix
39	chr17:33787400-33788000	Active TSS	HMEC	breast
40	chr17:33787400-33788200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr17:33787400-33788200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
42	chr17:33787400-33788400	Enhancers	Gastric	stomach
43	chr17:33787600-33788000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr17:33787600-33788000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:33787600-33788000	Active TSS	H9 Cell Line	embryonic stem cell
46	chr17:33787600-33788000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr17:33787600-33788000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr17:33787600-33788000	Active TSS	Aorta	Aorta
49	chr17:33787600-33788000	Active TSS	Duodenum Mucosa	Duodenum
50	chr17:33787600-33788000	Active TSS	Esophagus	oesophagus

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