Variant report

Variant	rs73275017
Chromosome Location	chr17:33775513-33775514
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	E2F6	chr17:33775248-33776313	H1-hESC	embryonic stem cell:	n/a	chr17:33775477-33775486 chr17:33775606-33775615
2	CREB1	chr17:33775077-33776224	GM12878	blood:	n/a	n/a
3	EP300	chr17:33775145-33776103	GM12878	blood:	n/a	chr17:33775590-33775606 chr17:33775589-33775605
4	SRF	chr17:33775287-33775711	H1-hESC	embryonic stem cell:	n/a	chr17:33775509-33775527
5	MEF2A	chr17:33775071-33775675	GM12878	blood:	n/a	n/a
6	CEBPB	chr17:33774978-33775609	GM12878	blood:	n/a	n/a
7	POLR2A	chr17:33775083-33776257	GM12878	blood:	n/a	n/a
8	POLR2A	chr17:33775085-33776260	GM12892	blood:	n/a	n/a
9	MXI1	chr17:33775142-33776195	GM12878	blood:	n/a	n/a
10	TBP	chr17:33775190-33776016	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF3	chr17:33775123-33775772	GM12878	blood:	n/a	n/a
12	POLR2A	chr17:33775205-33776105	GM10847	blood:	n/a	n/a
13	POLR2A	chr17:33775121-33776180	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCLAF1	chr17:33775059-33776231	GM12878	blood:	n/a	chr17:33775602-33775615 chr17:33775607-33775616 chr17:33775584-33775597
15	POLR2A	chr17:33775119-33776935	GM19099	blood:	n/a	n/a
16	GABPA	chr17:33775081-33775710	HL-60	blood:	n/a	chr17:33775606-33775615
17	CHD1	chr17:33775116-33775519	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr17:33775053-33776379	GM12892	blood:	n/a	n/a
19	PAX5	chr17:33775066-33775943	GM12878	blood:	n/a	n/a
20	RUNX3	chr17:33774958-33776080	GM12878	blood:	n/a	chr17:33775345-33775362
21	E2F6	chr17:33775169-33776268	A549	lung:	n/a	chr17:33775477-33775486 chr17:33775606-33775615
22	MTA3	chr17:33775030-33776889	GM12878	blood:	n/a	n/a
23	POLR2A	chr17:33775139-33776835	GM15510	blood:	n/a	n/a
24	TBL1XR1	chr17:33775126-33775945	GM12878	blood:	n/a	n/a
25	TAF7	chr17:33775233-33775859	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr17:33775090-33775757	GM12891	blood:	n/a	n/a
27	ELF1	chr17:33774850-33776173	GM12878	blood:	n/a	n/a
28	SIN3AK20	chr17:33775157-33776189	PANC-1	pancreas:	n/a	n/a
29	ETS1	chr17:33775114-33775565	GM12878	blood:	n/a	n/a
30	MAZ	chr17:33775150-33775577	K562	blood:	n/a	n/a
31	TCF3	chr17:33775441-33775752	GM12878	blood:	n/a	n/a
32	E2F6	chr17:33775074-33777003	H1-hESC	embryonic stem cell:	n/a	chr17:33775477-33775486 chr17:33775606-33775615
33	STAT5A	chr17:33775070-33776141	GM12878	blood:	n/a	n/a
34	MAX	chr17:33775217-33776307	A549	lung:	n/a	n/a
35	POLR2A	chr17:33775134-33776940	GM18526	blood:	n/a	n/a
36	POLR2A	chr17:33775096-33776338	GM12878	blood:	n/a	n/a
37	POU2F2	chr17:33775091-33777021	GM12878	blood:	n/a	chr17:33775474-33775486 chr17:33775599-33775611 chr17:33775602-33775614 chr17:33776338-33776350 chr17:33775578-33775590 chr17:33775477-33775489 chr17:33776344-33776356
38	TCF12	chr17:33775212-33775672	GM12878	blood:	n/a	n/a
39	SP1	chr17:33775285-33776176	A549	lung:	n/a	chr17:33775475-33775487 chr17:33775606-33775615 chr17:33775607-33775616 chr17:33775602-33775616 chr17:33775477-33775486 chr17:33775605-33775617 chr17:33775476-33775485 chr17:33775605-33775617 chr17:33775476-33775490 chr17:33775606-33775616
40	EGR1	chr17:33775139-33775524	H1-hESC	embryonic stem cell:	n/a	chr17:33775476-33775486 chr17:33775478-33775491 chr17:33775342-33775352 chr17:33775341-33775354 chr17:33775341-33775354 chr17:33775340-33775354 chr17:33775341-33775354 chr17:33775338-33775352 chr17:33775342-33775351 chr17:33775341-33775351 chr17:33775341-33775354
41	TCF12	chr17:33775392-33776187	A549	lung:	n/a	n/a
42	POLR2A	chr17:33775086-33776229	GM12878	blood:	n/a	n/a
43	SMC3	chr17:33775169-33775766	GM12878	blood:	n/a	n/a
44	POLR2A	chr17:33775164-33776025	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr17:33775233-33776235	H1-hESC	embryonic stem cell:	n/a	n/a
46	BHLHE40	chr17:33775151-33776052	GM12878	blood:	n/a	chr17:33775589-33775605
47	SP1	chr17:33775493-33776138	H1-hESC	embryonic stem cell:	n/a	chr17:33775606-33775615 chr17:33775607-33775616 chr17:33775602-33775616 chr17:33775605-33775617 chr17:33775605-33775617 chr17:33775606-33775616
48	POLR2A	chr17:33774687-33776084	GM12891	blood:	n/a	n/a
49	GABPA	chr17:33774985-33775854	HL-60	blood:	n/a	chr17:33775606-33775615
50	ATF2	chr17:33775105-33775651	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:33775475-33775525	NHDF-neo	bronchial:	n/a
2	chr17:33775475-33775525	GM12892	blood:	n/a
3	chr17:33775475-33775525	ovcar-3	ovarian:	n/a
4	chr17:33775475-33775525	GM19239	blood:	n/a
5	chr17:33775475-33775525	Caco-2	colon:	n/a
6	chr17:33775475-33775525	GM06990	blood:	n/a
7	chr17:33775475-33775525	BE2_C	brain:	n/a
8	chr17:33775475-33775525	GM12891	blood:	n/a
9	chr17:33775475-33775525	IMR90	lung:	fetal
10	chr17:33775475-33775525	HCPEpiC	choroid plexus:	n/a
11	chr17:33775475-33775525	HIPEpiC	eye:	n/a
12	chr17:33775475-33775525	SK-N-MC	brain:	n/a
13	chr17:33775475-33775525	HEEpiC	esophagus:	n/a
14	chr17:33775475-33775525	SK-N-SH	brain:	n/a
15	chr17:33775475-33775525	ProgFib	skin:	n/a
16	chr17:33775475-33775525	AG04449	skin:	fetal
17	chr17:33775475-33775525	HCM	heart:	n/a
18	chr17:33775475-33775525	GM12878	blood:	n/a
19	chr17:33775475-33775525	AG09309	skin:	n/a
20	chr17:33775475-33775525	MCF-7	breast:	n/a
21	chr17:33775475-33775525	AG10803	skin:	n/a
22	chr17:33775475-33775525	AoSMC	blood vessel:	n/a
23	chr17:33775475-33775525	SK-N-SH_RA	brain:	n/a
24	chr17:33775475-33775525	HRPEpiC	eye:	n/a
25	chr17:33775475-33775525	NH-A	brain:	n/a
26	chr17:33775475-33775525	Hela-S3	cervix:	n/a
27	chr17:33775475-33775525	PFSK-1	brain:	n/a
28	chr17:33775475-33775525	Hepatocyte	liver:	n/a
29	chr17:33775475-33775525	HL-60	blood:	n/a
30	chr17:33775475-33775525	K562	blood:	n/a
31	chr17:33775475-33775525	ECC-1	luminal epithelium:	n/a
32	chr17:33775475-33775525	SAEC	small airway:	n/a
33	chr17:33775475-33775525	NT2-D1	testis:	n/a
34	chr17:33775475-33775525	T-47D	breast:	n/a
35	chr17:33775475-33775525	AG09319	gingival:	n/a
36	chr17:33775475-33775525	HUVEC	blood vessel:	n/a
37	chr17:33775475-33775525	HNPCEpiC	eye:	n/a
38	chr17:33775475-33775525	HRE	kidney:	n/a
39	chr17:33775475-33775525	CMK	blood:	n/a
40	chr17:33775475-33775525	HepG2	liver:	n/a
41	chr17:33775475-33775525	AG04450	lung:	fetal
42	chr17:33775475-33775525	Jurkat	blood:	n/a
43	chr17:33775475-33775525	HCT-116	colon:	n/a
44	chr17:33775475-33775525	HAEpiC	amniotic membrane:	n/a
45	chr17:33775475-33775525	RPTEC	kidney:	n/a
46	chr17:33775475-33775525	PANC-1	pancreas:	n/a
47	chr17:33775475-33775525	HPAEpiC	pulmonary alveolar:	n/a
48	chr17:33775475-33775525	SKMC	muscle:	n/a
49	chr17:33775475-33775525	BJ	skin:	n/a
50	chr17:33775475-33775525	HRCEpiC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:33769997..33772468-chr17:33774210..33776177,2	K562	blood:
2	chr11:118955097..118955597-chr17:33775245..33775746,2	NB4	blood:
3	chr17:33775239..33775823-chr2:28974546..28975384,2	NB4	blood:

Variant related genes	Relation type
SLFN13	TF binding region
SLFN13	CpG island
ENSG00000256269	Chromatin interaction
ENSG00000154760	Chromatin interaction
ENSG00000213639	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12601979	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4796084	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4796085	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57580463	1.00[EUR][1000 genomes]
rs7214197	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7225069	1.00[EUR][1000 genomes]
rs73275023	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73281411	1.00[EUR][1000 genomes]
rs73281414	1.00[EUR][1000 genomes]
rs8064988	1.00[EUR][1000 genomes]
rs8069360	1.00[EUR][1000 genomes]
rs8076783	1.00[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33774200-33777200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr17:33774400-33777000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:33774600-33775600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr17:33774600-33775600	Active TSS	Right Atrium	heart
5	chr17:33774600-33775800	Bivalent/Poised TSS	Fetal Kidney	kidney
6	chr17:33774600-33776000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr17:33774600-33776000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr17:33774600-33776000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr17:33774600-33776000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr17:33774600-33776000	Active TSS	HMEC	breast
11	chr17:33774600-33776800	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr17:33774800-33775600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr17:33774800-33775600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr17:33774800-33775600	Active TSS	Colonic Mucosa	Colon
15	chr17:33774800-33775600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr17:33774800-33775600	Active TSS	Rectal Smooth Muscle	rectum
17	chr17:33774800-33775600	Active TSS	GM12878-XiMat	blood
18	chr17:33774800-33775800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr17:33774800-33775800	Active TSS	K562	blood
20	chr17:33774800-33776000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:33774800-33776000	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr17:33774800-33776000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr17:33774800-33776000	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr17:33774800-33776000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr17:33774800-33776400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr17:33774800-33776400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr17:33774800-33776400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:33774800-33776600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:33774800-33776600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr17:33774800-33776600	Active TSS	Duodenum Mucosa	Duodenum
31	chr17:33774800-33776800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr17:33774800-33776800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr17:33774800-33776800	Active TSS	Colon Smooth Muscle	Colon
34	chr17:33774800-33776800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr17:33775000-33775600	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr17:33775000-33775600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr17:33775000-33775600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr17:33775000-33775600	Active TSS	Primary B cells from cord blood	blood
39	chr17:33775000-33775600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr17:33775000-33775600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:33775000-33775600	Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr17:33775000-33775600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr17:33775000-33775600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr17:33775000-33775600	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr17:33775000-33775600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr17:33775000-33775600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr17:33775000-33775600	Bivalent/Poised TSS	Liver	Liver
48	chr17:33775000-33775600	Active TSS	Esophagus	oesophagus
49	chr17:33775000-33775600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
50	chr17:33775000-33775600	Active TSS	Right Ventricle	heart

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