Variant report

Variant	rs17522960
Chromosome Location	chr2:128284073-128284074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:538)
CpG islands
(count:61)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:538 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:128283730-128284747	U87	brain:	n/a	n/a
2	PAX5	chr2:128283831-128284609	GM12891	blood:	n/a	n/a
3	TEAD4	chr2:128283716-128284679	ECC-1	luminal epithelium:	n/a	n/a
4	ELF1	chr2:128283660-128284705	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:128283624-128284850	GM12892	blood:	n/a	n/a
6	GATA1	chr2:128283670-128285289	PBDE	blood:	n/a	chr2:128284367-128284375
7	KAP1	chr2:128283994-128285181	U2OS	brain:	n/a	n/a
8	CREB1	chr2:128283503-128284965	HepG2	liver:	n/a	n/a
9	STAT3	chr2:128283997-128285225	MCF10A-Er-Src	breast:	n/a	chr2:128284381-128284392 chr2:128284508-128284520
10	MTA3	chr2:128284055-128285154	GM12878	blood:	n/a	n/a
11	YY1	chr2:128283536-128284746	H1-hESC	embryonic stem cell:	n/a	chr2:128284048-128284065
12	TAF1	chr2:128283639-128284677	GM12878	blood:	n/a	n/a
13	NFYB	chr2:128283936-128284598	K562	blood:	n/a	chr2:128284111-128284126 chr2:128284114-128284129 chr2:128284116-128284126 chr2:128284114-128284129 chr2:128284114-128284128
14	SP1	chr2:128283813-128284753	A549	lung:	n/a	chr2:128284115-128284136
15	NFIC	chr2:128283845-128284472	GM12878	blood:	n/a	n/a
16	POLR2A	chr2:128283224-128285153	NB4	blood:	n/a	n/a
17	SIN3AK20	chr2:128283470-128284503	K562	blood:	n/a	n/a
18	CTCF	chr2:128283980-128284130	GM12870	blood:	n/a	n/a
19	CTCF	chr2:128283940-128284090	HepG2	liver:	n/a	n/a
20	PML	chr2:128283789-128284477	GM12878	blood:	n/a	n/a
21	MAX	chr2:128282893-128285229	HepG2	liver:	n/a	n/a
22	HEY1	chr2:128283280-128285243	HepG2	liver:	n/a	chr2:128284087-128284102
23	POLR2A	chr2:128283175-128285085	MCF-7	breast:	n/a	n/a
24	FOXA1	chr2:128283541-128285083	HepG2	liver:	n/a	n/a
25	CEBPB	chr2:128284005-128285172	HepG2	liver:	n/a	chr2:128284974-128284985
26	TAF1	chr2:128283521-128284771	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr2:128283598-128285151	K562	blood:	n/a	n/a
28	CEBPB	chr2:128283819-128285166	GM12878	blood:	n/a	chr2:128284974-128284985
29	POLR2A	chr2:128283793-128284706	HepG2	liver:	n/a	n/a
30	POLR2A	chr2:128282973-128285090	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr2:128284016-128284125	Lung_OC	lung:	n/a	n/a
32	CTCF	chr2:128283980-128284130	GM12864	blood:	n/a	n/a
33	MAX	chr2:128283143-128284997	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr2:128283629-128284251	A549	lung:	n/a	n/a
35	ETS1	chr2:128283799-128284740	A549	lung:	n/a	chr2:128284448-128284461
36	MAX	chr2:128283475-128284655	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr2:128283601-128285124	HCT-116	colon:	n/a	n/a
38	ZBTB7A	chr2:128283515-128284214	K562	blood:	n/a	chr2:128283649-128283663
39	NFIC	chr2:128283755-128285195	HepG2	liver:	n/a	n/a
40	YY1	chr2:128283483-128284636	GM12891	blood:	n/a	chr2:128284048-128284065
41	ELF1	chr2:128283678-128285007	MCF-7	breast:	n/a	n/a
42	TAF1	chr2:128283811-128284329	GM12892	blood:	n/a	n/a
43	RCOR1	chr2:128283664-128285211	K562	blood:	n/a	n/a
44	TEAD4	chr2:128283611-128284669	ECC-1	luminal epithelium:	n/a	n/a
45	CHD2	chr2:128283803-128284525	HepG2	liver:	n/a	n/a
46	STAT3	chr2:128283955-128285508	MCF10A-Er-Src	breast:	n/a	chr2:128284381-128284392 chr2:128284508-128284520 chr2:128285419-128285427
47	MAX	chr2:128283453-128284980	K562	blood:	n/a	n/a
48	STAT5A	chr2:128283803-128284647	K562	blood:	n/a	chr2:128284508-128284520
49	CTCF	chr2:128283938-128284115	Pancreas_OC	pancreas:	n/a	n/a
50	BCL3	chr2:128283783-128284777	A549	lung:	n/a	chr2:128284504-128284512

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:128284023-128284073	HCPEpiC	choroid plexus:	n/a
2	chr2:128284023-128284073	RPTEC	kidney:	n/a
3	chr2:128284023-128284073	HepG2	liver:	n/a
4	chr2:128284023-128284073	T-47D	breast:	n/a
5	chr2:128284023-128284073	A549	lung:	n/a
6	chr2:128284023-128284073	HL-60	blood:	n/a
7	chr2:128284023-128284073	AG04449	skin:	fetal
8	chr2:128284023-128284073	HRPEpiC	eye:	n/a
9	chr2:128284023-128284073	NT2-D1	testis:	n/a
10	chr2:128284023-128284073	HMEC	breast:	n/a
11	chr2:128284023-128284073	IMR90	lung:	fetal
12	chr2:128284023-128284073	NHBE	bronchial:	n/a
13	chr2:128284023-128284073	Caco-2	colon:	n/a
14	chr2:128284023-128284073	K562	blood:	n/a
15	chr2:128284023-128284073	HUVEC	blood vessel:	n/a
16	chr2:128284023-128284073	HNPCEpiC	eye:	n/a
17	chr2:128284023-128284073	GM12878	blood:	n/a
18	chr2:128284023-128284073	HCT-116	colon:	n/a
19	chr2:128284023-128284073	NHDF-neo	bronchial:	n/a
20	chr2:128284023-128284073	PFSK-1	brain:	n/a
21	chr2:128284023-128284073	ECC-1	luminal epithelium:	n/a
22	chr2:128284023-128284073	SAEC	small airway:	n/a
23	chr2:128284023-128284073	AoSMC	blood vessel:	n/a
24	chr2:128284023-128284073	HRCEpiC	kidney:	n/a
25	chr2:128284023-128284073	H1-hESC	embryonic stem cell:	embryo
26	chr2:128284023-128284073	HPAEpiC	pulmonary alveolar:	n/a
27	chr2:128284023-128284073	LNCaP	prostate:	n/a
28	chr2:128284023-128284073	AG10803	skin:	n/a
29	chr2:128284023-128284073	GM19239	blood:	n/a
30	chr2:128284023-128284073	BJ	skin:	n/a
31	chr2:128284023-128284073	AG04450	lung:	fetal
32	chr2:128284023-128284073	NH-A	brain:	n/a
33	chr2:128284023-128284073	HEEpiC	esophagus:	n/a
34	chr2:128284023-128284073	NB4	blood:	n/a
35	chr2:128284023-128284073	HIPEpiC	eye:	n/a
36	chr2:128284023-128284073	MCF-7	breast:	n/a
37	chr2:128284023-128284073	ProgFib	skin:	n/a
38	chr2:128284023-128284073	HEK293	kidney:	embryo
39	chr2:128284023-128284073	GM06990	blood:	n/a
40	chr2:128284023-128284073	MCF10A-Er-Src	breast:	n/a
41	chr2:128284023-128284073	SK-N-MC	brain:	n/a
42	chr2:128284023-128284073	Jurkat	blood:	n/a
43	chr2:128284023-128284073	U87	brain:	n/a
44	chr2:128284023-128284073	AG09319	gingival:	n/a
45	chr2:128284023-128284073	ovcar-3	ovarian:	n/a
46	chr2:128284023-128284073	SK-N-SH	brain:	n/a
47	chr2:128284023-128284073	GM12891	blood:	n/a
48	chr2:128284023-128284073	SKMC	muscle:	n/a
49	chr2:128284023-128284073	AG09309	skin:	n/a
50	chr2:128284023-128284073	PrEC	prostate:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128268468..128273715-chr2:128281746..128285691,7	MCF-7	breast:
2	chr17:8076376..8077187-chr2:128283952..128284641,2	Hela-S3	cervix:
3	chr2:128282521..128284586-chr2:128401987..128404000,3	MCF-7	breast:
4	chr2:128281499..128284149-chr2:128402816..128405194,3	K562	blood:
5	chr2:128281529..128285562-chr2:128456798..128461981,8	MCF-7	breast:
6	chr2:128281830..128287084-chr2:128456997..128460931,12	MCF-7	breast:
7	chr2:128271646..128276478-chr2:128281725..128284912,6	MCF-7	breast:
8	chr2:128272088..128276196-chr2:128278536..128286742,8	K562	blood:
9	chr2:128281740..128285599-chr2:128456961..128460579,6	K562	blood:
10	chr2:128280589..128286553-chr2:128394118..128400117,7	K562	blood:
11	chr2:128145128..128146772-chr2:128281228..128284838,3	MCF-7	breast:
12	chr2:128271568..128276709-chr2:128278536..128286742,13	K562	blood:
13	chr2:128282942..128286699-chr2:128456814..128459461,6	K562	blood:
14	chr2:128261114..128269570-chr2:128281581..128286258,13	K562	blood:
15	chr1:149857973..149858894-chr2:128283439..128284427,3	Hela-S3	cervix:
16	chr2:128283768..128284492-chr5:77072021..77072612,2	NB4	blood:
17	chr2:128283338..128286732-chr2:128405209..128408607,3	MCF-7	breast:
18	chr2:128282097..128285637-chr2:128404430..128407235,3	MCF-7	breast:
19	chr17:57923753..57926403-chr2:128283253..128285757,2	MCF-7	breast:

No data

Variant related genes	Relation type
IWS1	TF binding region
IWS1	CpG island
ENSG00000236682	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000173349	Chromatin interaction
ENSG00000144230	Chromatin interaction
ENSG00000072163	Chromatin interaction
ENSG00000169967	Chromatin interaction
ENSG00000171530	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000163166	Chromatin interaction
ENSG00000184678	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10190872	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10206221	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475217	0.81[ASN][1000 genomes]
rs12621149	0.87[ASN][1000 genomes]
rs13397441	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13399231	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13415053	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1549767	0.87[ASN][1000 genomes]
rs17015347	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17015399	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs173013	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2078028	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2249646	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679402	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2679407	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334139	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334147	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334148	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334149	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334150	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334153	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334155	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334162	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3732208	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4423553	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56217122	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs56234754	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs58462277	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59934067	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61342606	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6707186	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6707425	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6722447	0.85[ASN][1000 genomes]
rs6731270	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6734816	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748790	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6757654	0.82[AMR][1000 genomes]
rs72958594	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72958600	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7569931	0.84[EUR][1000 genomes]
rs7570609	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7572181	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7574209	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7574215	0.82[AMR][1000 genomes]
rs7576217	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7598346	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7603777	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs777547	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs777549	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs777550	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs777551	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs777561	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs777562	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs777563	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv2912	chr2:128281152-128307830	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr2:128281800-128284800	Active TSS	A549	lung
2	chr2:128282000-128286400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:128282400-128284600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:128282400-128284600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:128282400-128284800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:128282400-128285000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:128282600-128284600	Active TSS	HSMM	muscle
8	chr2:128282600-128284800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr2:128282600-128284800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr2:128282600-128284800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:128282600-128285000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr2:128282600-128285000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:128282600-128285000	Active TSS	Psoas Muscle	Psoas
14	chr2:128282800-128284600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:128282800-128284600	Active TSS	Muscle Satellite Cultured Cells	--
16	chr2:128282800-128284600	Active TSS	Fetal Lung	lung
17	chr2:128282800-128284600	Active TSS	HMEC	breast
18	chr2:128282800-128284600	Active TSS	HSMMtube	muscle
19	chr2:128282800-128284600	Active TSS	NHLF	lung
20	chr2:128282800-128284800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:128282800-128284800	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr2:128282800-128284800	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr2:128282800-128284800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr2:128282800-128284800	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr2:128282800-128284800	Active TSS	Fetal Intestine Large	intestine
26	chr2:128282800-128284800	Active TSS	Fetal Intestine Small	intestine
27	chr2:128282800-128284800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr2:128282800-128284800	Active TSS	Ovary	ovary
29	chr2:128282800-128284800	Active TSS	GM12878-XiMat	blood
30	chr2:128282800-128285000	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr2:128282800-128285000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr2:128282800-128285000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:128282800-128285000	Active TSS	Esophagus	oesophagus
34	chr2:128282800-128285000	Active TSS	Right Atrium	heart
35	chr2:128282800-128285200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:128282800-128285400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:128283000-128284600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:128283000-128284600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:128283000-128284600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:128283000-128284600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:128283000-128284600	Active TSS	Fetal Heart	heart
42	chr2:128283000-128284600	Active TSS	NH-A	brain
43	chr2:128283000-128284600	Active TSS	NHEK	skin
44	chr2:128283000-128284800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:128283000-128284800	Active TSS	Aorta	Aorta
46	chr2:128283000-128284800	Active TSS	Gastric	stomach
47	chr2:128283000-128284800	Active TSS	Lung	lung
48	chr2:128283000-128284800	Active TSS	Hela-S3	cervix
49	chr2:128283000-128284800	Active TSS	NHDF-Ad	bronchial
50	chr2:128283000-128285000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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