Variant report

Variant	rs2232833
Chromosome Location	chr17:17399964-17399965
allele	G/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	POLR2A	chr17:17398390-17400436	IMR90	lung:	n/a	n/a
2	ELF1	chr17:17399645-17399978	K562	blood:	n/a	chr17:17399719-17399731 chr17:17399845-17399854 chr17:17399940-17399952
3	CTCF	chr17:17399723-17401178	A549	lung:	n/a	chr17:17400289-17400310 chr17:17400287-17400305 chr17:17400290-17400303 chr17:17400288-17400304 chr17:17400300-17400313
4	CTCF	chr17:17399337-17400838	SK-N-SH	brain:	n/a	chr17:17400289-17400310 chr17:17400287-17400305 chr17:17400290-17400303 chr17:17400288-17400304 chr17:17400300-17400313
5	MAX	chr17:17399132-17400555	A549	lung:	n/a	n/a
6	FOSL2	chr17:17399838-17400370	A549	lung:	n/a	n/a
7	POLR2A	chr17:17399337-17400008	U87	brain:	n/a	n/a
8	POLR2A	chr17:17398207-17400620	H1-neurons	neurons:	n/a	n/a
9	CREB1	chr17:17399507-17400005	H1-hESC	embryonic stem cell:	n/a	n/a
10	RFX5	chr17:17399548-17400431	Hela-S3	cervix:	n/a	n/a
11	CREB1	chr17:17399371-17400059	A549	lung:	n/a	n/a
12	RAD21	chr17:17399235-17400823	SK-N-SH	brain:	n/a	chr17:17400293-17400303 chr17:17399877-17399887 chr17:17400293-17400305 chr17:17400291-17400304 chr17:17400288-17400307
13	POLR2A	chr17:17399262-17400003	MCF-7	breast:	n/a	n/a
14	CTCF	chr17:17399880-17400030	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr17:17399880-17400030	GM12871	blood:	n/a	n/a
16	MAX	chr17:17399727-17400393	NB4	blood:	n/a	n/a
17	POLR2A	chr17:17399194-17400496	A549	lung:	n/a	n/a
18	POLR2A	chr17:17399237-17400071	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr17:17399325-17399974	SK-N-MC	brain:	n/a	n/a
20	CHD2	chr17:17399492-17400278	HepG2	liver:	n/a	chr17:17399802-17399812 chr17:17399880-17399890
21	POLR2A	chr17:17399175-17400032	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr17:17399452-17400052	A549	lung:	n/a	n/a
23	MAX	chr17:17398301-17400576	H1-hESC	embryonic stem cell:	n/a	n/a
24	UBTF	chr17:17399786-17400459	K562	blood:	n/a	n/a
25	HDAC2	chr17:17399806-17400525	MCF-7	breast:	n/a	chr17:17400278-17400287
26	RAD21	chr17:17399583-17399968	HepG2	liver:	n/a	chr17:17399877-17399887
27	CEBPD	chr17:17399298-17399982	HepG2	liver:	n/a	n/a
28	POLR2A	chr17:17399528-17399968	HCT-116	colon:	n/a	n/a
29	POLR2A	chr17:17397985-17400505	MCF-7	breast:	n/a	n/a
30	JUND	chr17:17399671-17400359	K562	blood:	n/a	chr17:17399800-17399809
31	POLR2A	chr17:17399220-17400545	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr17:17399373-17400359	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr17:17399483-17400108	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr17:17399486-17399971	A549	lung:	n/a	n/a
35	POLR2A	chr17:17399465-17400030	A549	lung:	n/a	n/a
36	POLR2A	chr17:17399221-17400023	A549	lung:	n/a	n/a
37	MAZ	chr17:17399288-17400963	IMR90	lung:	n/a	chr17:17400576-17400585 chr17:17400755-17400765
38	RAD21	chr17:17399832-17400691	ECC-1	luminal epithelium:	n/a	chr17:17400293-17400303 chr17:17399877-17399887 chr17:17400293-17400305 chr17:17400291-17400304 chr17:17400288-17400307
39	POLR2A	chr17:17399346-17400020	MCF10A-Er-Src	breast:	n/a	n/a
40	CTCF	chr17:17399926-17400021	GM19240	blood:	n/a	n/a
41	POLR2A	chr17:17398671-17400417	HepG2	liver:	n/a	n/a
42	POLR2A	chr17:17399349-17400375	Hela-S3	cervix:	n/a	n/a
43	EGR1	chr17:17399625-17400058	MCF-7	breast:	n/a	chr17:17399803-17399816 chr17:17399800-17399813 chr17:17399804-17399814 chr17:17399719-17399729 chr17:17399868-17399881 chr17:17399803-17399816 chr17:17399800-17399814
44	ELF1	chr17:17399925-17400526	GM12878	blood:	n/a	chr17:17400332-17400344 chr17:17400450-17400462 chr17:17399940-17399952
45	EGR1	chr17:17399550-17399972	H1-hESC	embryonic stem cell:	n/a	chr17:17399803-17399816 chr17:17399800-17399813 chr17:17399804-17399814 chr17:17399719-17399729 chr17:17399868-17399881 chr17:17399803-17399816 chr17:17399800-17399814
46	CREB1	chr17:17399197-17400540	HepG2	liver:	n/a	n/a
47	POLR2A	chr17:17399433-17400072	SK-N-SH	brain:	n/a	n/a
48	HMGN3	chr17:17399237-17400488	K562	blood:	n/a	n/a
49	TCF12	chr17:17399492-17400521	A549	lung:	n/a	n/a
50	ZBTB7A	chr17:17399645-17400436	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17399941-17399991	LNCaP	prostate:	n/a
2	chr17:17399941-17399991	RPTEC	kidney:	n/a
3	chr17:17399941-17399991	HUVEC	blood vessel:	n/a
4	chr17:17399941-17399991	Hepatocyte	liver:	n/a
5	chr17:17399941-17399991	AoSMC	blood vessel:	n/a
6	chr17:17399941-17399991	GM12878	blood:	n/a
7	chr17:17399941-17399991	HCF	heart:	n/a
8	chr17:17399941-17399991	NHDF-neo	bronchial:	n/a
9	chr17:17399941-17399991	PFSK-1	brain:	n/a
10	chr17:17399941-17399991	PrEC	prostate:	n/a
11	chr17:17399941-17399991	HPAEpiC	pulmonary alveolar:	n/a
12	chr17:17399941-17399991	Jurkat	blood:	n/a
13	chr17:17399941-17399991	HCM	heart:	n/a
14	chr17:17399941-17399991	GM19239	blood:	n/a
15	chr17:17399941-17399991	HNPCEpiC	eye:	n/a
16	chr17:17399941-17399991	U87	brain:	n/a
17	chr17:17399941-17399991	ProgFib	skin:	n/a
18	chr17:17399941-17399991	PANC-1	pancreas:	n/a
19	chr17:17399941-17399991	MCF10A-Er-Src	breast:	n/a
20	chr17:17399941-17399991	HIPEpiC	eye:	n/a
21	chr17:17399941-17399991	CMK	blood:	n/a
22	chr17:17399941-17399991	BE2_C	brain:	n/a
23	chr17:17399941-17399991	Hela-S3	cervix:	n/a
24	chr17:17399941-17399991	AG09309	skin:	n/a
25	chr17:17399941-17399991	A549	lung:	n/a
26	chr17:17399941-17399991	GM12892	blood:	n/a
27	chr17:17399941-17399991	GM06990	blood:	n/a
28	chr17:17399941-17399991	HL-60	blood:	n/a
29	chr17:17399941-17399991	HRE	kidney:	n/a
30	chr17:17399941-17399991	HepG2	liver:	n/a
31	chr17:17399941-17399991	HCT-116	colon:	n/a
32	chr17:17399941-17399991	NH-A	brain:	n/a
33	chr17:17399941-17399991	NHBE	bronchial:	n/a
34	chr17:17399941-17399991	AG04449	skin:	fetal
35	chr17:17399941-17399991	HRPEpiC	eye:	n/a
36	chr17:17399941-17399991	AG04450	lung:	fetal
37	chr17:17399941-17399991	HCPEpiC	choroid plexus:	n/a
38	chr17:17399941-17399991	AG10803	skin:	n/a
39	chr17:17399941-17399991	K562	blood:	n/a
40	chr17:17399941-17399991	ECC-1	luminal epithelium:	n/a
41	chr17:17399941-17399991	T-47D	breast:	n/a
42	chr17:17399941-17399991	MCF-7	breast:	n/a
43	chr17:17399941-17399991	NB4	blood:	n/a
44	chr17:17399941-17399991	ovcar-3	ovarian:	n/a
45	chr17:17399941-17399991	SAEC	small airway:	n/a
46	chr17:17399941-17399991	Caco-2	colon:	n/a
47	chr17:17399941-17399991	SK-N-MC	brain:	n/a
48	chr17:17399941-17399991	GM12891	blood:	n/a
49	chr17:17399941-17399991	BJ	skin:	n/a
50	chr17:17399941-17399991	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:17399759..17400695-chr17:17544845..17545554,2	K562	blood:
2	chr17:17398857..17400412-chr17:17494167..17496293,2	K562	blood:
3	chr17:17379236..17381999-chr17:17395224..17401626,6	MCF-7	breast:
4	chr17:17399330..17400214-chr6:31509455..31510221,2	Hela-S3	cervix:
5	chr17:17291335..17291987-chr17:17399782..17400706,3	MCF-7	breast:
6	chr17:17399769..17400801-chr17:17471936..17472657,4	MCF-7	breast:
7	chr17:17259051..17260073-chr17:17399842..17400699,3	MCF-7	breast:
8	chr17:17396995..17404908-chr17:17406815..17414609,13	MCF-7	breast:
9	chr17:17399866..17402763-chr17:17404179..17406127,2	MCF-7	breast:
10	chr17:17380261..17384039-chr17:17397347..17401058,7	MCF-7	breast:
11	chr17:17259111..17259919-chr17:17399843..17400794,5	MCF-7	breast:
12	chr17:17399780..17400738-chr17:17471636..17473808,15	MCF-7	breast:
13	chr17:17398348..17401153-chr17:17494060..17496594,3	MCF-7	breast:
14	chr17:17349182..17349868-chr17:17399782..17400771,2	MCF-7	breast:
15	chr17:17139597..17142266-chr17:17398056..17400275,2	MCF-7	breast:
16	chr17:17291141..17292010-chr17:17399819..17400387,2	MCF-7	breast:
17	chr17:17398240..17400896-chr17:17493826..17497836,5	MCF-7	breast:

Variant related genes	Relation type
RASD1	TF binding region
RASD1	CpG island
ENSG00000264666	Chromatin interaction
ENSG00000154803	Chromatin interaction
ENSG00000265511	Chromatin interaction
ENSG00000141026	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000133027	Chromatin interaction
ENSG00000264187	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1108740	0.90[EUR][1000 genomes]
rs17723136	0.95[EUR][1000 genomes]
rs2232830	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2232841	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73292346	0.86[EUR][1000 genomes]
rs73292347	0.86[EUR][1000 genomes]
rs73292348	0.86[EUR][1000 genomes]
rs73292350	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73292351	0.86[EUR][1000 genomes]
rs73292353	0.86[EUR][1000 genomes]
rs73294315	0.86[EUR][1000 genomes]
rs73294326	0.82[EUR][1000 genomes]
rs8066002	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised 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	21 gene(s)	inside rSNPs	diseases
3	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv907732	chr17:17381764-17415217	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv907733	chr17:17381764-17422608	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv907734	chr17:17381764-17425858	Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv907737	chr17:17388167-17411030	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr17:17397200-17400400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr17:17397400-17400400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:17397400-17400400	Active TSS	Right Atrium	heart
4	chr17:17397600-17400400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr17:17397800-17400000	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr17:17397800-17400200	Active TSS	Psoas Muscle	Psoas
7	chr17:17397800-17400200	Active TSS	HSMMtube	muscle
8	chr17:17397800-17400200	Active TSS	NHDF-Ad	bronchial
9	chr17:17398000-17400000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
10	chr17:17398000-17400400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr17:17398000-17400400	Active TSS	HSMM	muscle
12	chr17:17398000-17400800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:17398200-17400400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr17:17398200-17400800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:17398600-17400200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr17:17398600-17400200	Active TSS	Fetal Kidney	kidney
17	chr17:17398800-17400200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
18	chr17:17398800-17400400	Active TSS	Right Ventricle	heart
19	chr17:17399000-17400000	Active TSS	Gastric	stomach
20	chr17:17399000-17400200	Active TSS	Colon Smooth Muscle	Colon
21	chr17:17399000-17400200	Active TSS	Lung	lung
22	chr17:17399000-17400400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr17:17399000-17400400	Active TSS	Brain Angular Gyrus	brain
24	chr17:17399000-17400400	Active TSS	Brain Anterior Caudate	brain
25	chr17:17399000-17400400	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr17:17399000-17400400	Active TSS	Brain Substantia Nigra	brain
27	chr17:17399000-17400400	Active TSS	Left Ventricle	heart
28	chr17:17399000-17400400	Active TSS	Ovary	ovary
29	chr17:17399000-17400400	Active TSS	Rectal Smooth Muscle	rectum
30	chr17:17399000-17400400	Active TSS	HepG2	liver
31	chr17:17399000-17400400	Active TSS	NHLF	lung
32	chr17:17399000-17400400	Active TSS	Osteobl	bone
33	chr17:17399000-17400600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr17:17399000-17400800	Active TSS	Fetal Brain Female	brain
35	chr17:17399200-17400000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr17:17399200-17400200	Active TSS	Aorta	Aorta
37	chr17:17399200-17400400	Active TSS	Adipose Nuclei	Adipose
38	chr17:17399200-17400400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr17:17399400-17400200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:17399400-17400200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr17:17399400-17400200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr17:17399400-17400400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:17399400-17400400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr17:17399400-17400400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:17399400-17400400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr17:17399400-17400400	Weak transcription	Fetal Heart	heart
47	chr17:17399400-17400400	Active TSS	A549	lung
48	chr17:17399400-17400400	Active TSS	Hela-S3	cervix
49	chr17:17399400-17400600	Active TSS	Primary T cells from cord blood	blood
50	chr17:17399400-17400800	Active TSS	H9 Cell Line	embryonic stem cell

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