Variant report

Variant	rs16971156
Chromosome Location	chr17:33906116-33906117
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:154)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:154 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr17:33904821-33906118	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:33904548-33906636	SK-N-SH	brain:	n/a	n/a
3	MYC	chr17:33905290-33906123	K562	blood:	n/a	chr17:33905388-33905398
4	POLR2A	chr17:33904747-33906624	GM12878	blood:	n/a	n/a
5	RUNX3	chr17:33904779-33906349	GM12878	blood:	n/a	n/a
6	MYC	chr17:33904755-33906472	K562	blood:	n/a	chr17:33905388-33905398
7	PML	chr17:33904807-33906455	GM12878	blood:	n/a	n/a
8	POLR2A	chr17:33905113-33906176	Hela-S3	cervix:	n/a	n/a
9	MAX	chr17:33905191-33906230	ECC-1	luminal epithelium:	n/a	chr17:33905388-33905398
10	POLR2A	chr17:33903526-33906572	U87	brain:	n/a	n/a
11	POLR2A	chr17:33904710-33906141	U87	brain:	n/a	n/a
12	TBP	chr17:33904867-33906388	K562	blood:	n/a	n/a
13	NR2F2	chr17:33904845-33906152	K562	blood:	n/a	n/a
14	MAX	chr17:33905200-33906175	SK-N-SH	brain:	n/a	chr17:33905388-33905398
15	GTF2B	chr17:33905296-33906181	K562	blood:	n/a	n/a
16	HCFC1	chr17:33904957-33906339	K562	blood:	n/a	n/a
17	POLR2A	chr17:33905142-33906462	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr17:33904873-33906552	GM19099	blood:	n/a	n/a
19	MTA3	chr17:33904777-33906596	GM12878	blood:	n/a	n/a
20	TCF12	chr17:33905161-33906127	ECC-1	luminal epithelium:	n/a	n/a
21	KAP1	chr17:33905200-33906271	K562	blood:	n/a	n/a
22	POLR2A	chr17:33904827-33906157	GM18951	blood:	n/a	n/a
23	ELK1	chr17:33906048-33906536	K562	blood:	n/a	n/a
24	POLR2A	chr17:33901409-33907583	K562	blood:	n/a	n/a
25	REST	chr17:33905292-33906250	H1-neurons	neurons:	n/a	n/a
26	JUND	chr17:33904859-33906342	K562	blood:	n/a	chr17:33905718-33905727
27	CREB1	chr17:33905099-33906127	K562	blood:	n/a	n/a
28	MAX	chr17:33904829-33906160	A549	lung:	n/a	chr17:33905388-33905398
29	POLR2A	chr17:33902306-33906596	K562	blood:	n/a	n/a
30	E2F6	chr17:33905156-33906230	A549	lung:	n/a	chr17:33905500-33905509 chr17:33905714-33905726
31	NFIC	chr17:33904849-33906153	GM12878	blood:	n/a	n/a
32	POLR2A	chr17:33904609-33906141	U87	brain:	n/a	n/a
33	POLR2A	chr17:33901875-33906561	K562	blood:	n/a	n/a
34	CUX1	chr17:33905088-33906501	K562	blood:	n/a	n/a
35	CTCF	chr17:33906000-33906150	AG10803	skin:	n/a	n/a
36	POLR2A	chr17:33904594-33906496	Hela-S3	cervix:	n/a	n/a
37	GABPA	chr17:33905072-33906291	SK-N-SH	brain:	n/a	chr17:33905500-33905509
38	POLR2A	chr17:33904783-33906583	HUVEC	blood vessel:	n/a	n/a
39	BCLAF1	chr17:33904774-33906504	GM12878	blood:	n/a	chr17:33905604-33905613
40	POLR2A	chr17:33906114-33906137	HUVEC	blood vessel:	n/a	n/a
41	TBP	chr17:33904584-33906392	Hela-S3	cervix:	n/a	n/a
42	NR2F2	chr17:33904556-33906498	K562	blood:	n/a	n/a
43	POLR2A	chr17:33904752-33906492	HepG2	liver:	n/a	n/a
44	POLR2A	chr17:33904604-33906562	GM12878	blood:	n/a	n/a
45	MXI1	chr17:33903925-33907137	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr17:33904495-33906616	K562	blood:	n/a	n/a
47	POLR2A	chr17:33904781-33906613	K562	blood:	n/a	n/a
48	GABPA	chr17:33904993-33906524	A549	lung:	n/a	chr17:33905500-33905509
49	POLR2A	chr17:33904713-33906466	GM18505	blood:	n/a	n/a
50	ZNF143	chr17:33904308-33906371	K562	blood:	n/a	chr17:33905709-33905727

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:33905539..33906227-chr6:27114174..27114709,2	Hela-S3	cervix:
2	chr17:33905920..33908004-chr17:33983373..33986029,2	K562	blood:
3	chr17:33905316..33906150-chr17:33913826..33914517,2	MCF-7	breast:
4	chr17:33865333..33867975-chr17:33904009..33907160,3	K562	blood:
5	chr17:33893246..33896592-chr17:33904977..33907170,4	MCF-7	breast:
6	chr17:33903370..33909494-chr17:33910892..33920548,27	MCF-7	breast:
7	chr14:75745047..75745976-chr17:33905357..33906188,2	Hela-S3	cervix:
8	chr17:33904670..33906387-chr17:34135611..34138584,2	MCF-7	breast:
9	chr17:33905538..33906296-chr19:17952868..17953561,2	Hela-S3	cervix:
10	chr17:33891810..33896606-chr17:33903023..33907452,11	MCF-7	breast:
11	chr17:33569405..33571509-chr17:33905703..33907784,3	MCF-7	breast:
12	chr17:33903959..33906487-chr17:34046885..34048555,2	K562	blood:

No data

Variant related genes	Relation type
PEX12	TF binding region
ENSG00000105639	Chromatin interaction
ENSG00000006125	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000267578	Chromatin interaction
ENSG00000239520	Chromatin interaction
ENSG00000172660	Chromatin interaction
ENSG00000242660	Chromatin interaction
ENSG00000267321	Chromatin interaction
ENSG00000166750	Chromatin interaction
ENSG00000267035	Chromatin interaction
ENSG00000266947	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12600769	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1531057	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16971128	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16971271	0.83[AMR][1000 genomes]
rs16971437	0.83[AMR][1000 genomes]
rs2278951	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3785760	0.83[AMR][1000 genomes]
rs3785762	0.83[AMR][1000 genomes]
rs3826401	0.83[AMR][1000 genomes]
rs72625914	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 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	chr17:33903800-33906400	Active TSS	GM12878-XiMat	blood
2	chr17:33904000-33906800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:33904200-33906600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr17:33904200-33906600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr17:33904400-33906600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:33904600-33906200	Active TSS	Fetal Kidney	kidney
7	chr17:33904600-33906400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr17:33904600-33906600	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr17:33904600-33906600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr17:33904600-33906600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr17:33904600-33906600	Active TSS	Psoas Muscle	Psoas
12	chr17:33904600-33907000	Active TSS	K562	blood
13	chr17:33904800-33906200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr17:33904800-33906200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr17:33904800-33906200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr17:33904800-33906200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:33904800-33906200	Active TSS	Esophagus	oesophagus
18	chr17:33904800-33906200	Active TSS	Fetal Intestine Large	intestine
19	chr17:33904800-33906200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr17:33904800-33906200	Active TSS	Pancreas	Pancrea
21	chr17:33904800-33906200	Active TSS	Placenta Amnion	Placenta Amnion
22	chr17:33904800-33906400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr17:33904800-33906400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr17:33904800-33906400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:33904800-33906400	Active TSS	Placenta	Placenta
26	chr17:33904800-33906400	Active TSS	Left Ventricle	heart
27	chr17:33904800-33906400	Active TSS	Ovary	ovary
28	chr17:33904800-33906400	Active TSS	Right Ventricle	heart
29	chr17:33904800-33906600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:33904800-33906600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr17:33904800-33906600	Active TSS	Colonic Mucosa	Colon
32	chr17:33904800-33906600	Active TSS	Fetal Muscle Trunk	muscle
33	chr17:33904800-33906600	Active TSS	NHDF-Ad	bronchial
34	chr17:33905000-33906200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr17:33905000-33906200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr17:33905000-33906200	Active TSS	Muscle Satellite Cultured Cells	--
37	chr17:33905000-33906200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:33905000-33906200	Active TSS	Aorta	Aorta
39	chr17:33905000-33906200	Active TSS	Brain Anterior Caudate	brain
40	chr17:33905000-33906200	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr17:33905000-33906200	Active TSS	Fetal Heart	heart
42	chr17:33905000-33906200	Active TSS	Fetal Stomach	stomach
43	chr17:33905000-33906200	Active TSS	Lung	lung
44	chr17:33905000-33906200	Active TSS	HSMMtube	muscle
45	chr17:33905000-33906200	Active TSS	NH-A	brain
46	chr17:33905000-33906200	Active TSS	Osteobl	bone
47	chr17:33905000-33906400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:33905000-33906400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr17:33905000-33906400	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr17:33905000-33906400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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