Variant report

Variant	esv3336274
Chromosome Location	chr1:247338679-247340627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:247339076-247339083	K562	blood:	n/a	n/a
2	CCNT2	chr1:247339059-247339140	K562	blood:	n/a	n/a
3	CEBPB	chr1:247338712-247339142	K562	blood:	n/a	chr1:247338910-247338921
4	CEBPB	chr1:247338782-247338995	Hela-S3	cervix:	n/a	chr1:247338910-247338921
5	CEBPB	chr1:247338751-247339126	K562	blood:	n/a	chr1:247338910-247338921
6	CEBPB	chr1:247338815-247339099	A549	lung:	n/a	chr1:247338910-247338921
7	CEBPB	chr1:247338788-247339084	HepG2	liver:	n/a	chr1:247338910-247338921
8	CEBPB	chr1:247338812-247339073	IMR90	lung:	n/a	chr1:247338910-247338921
9	EP300	chr1:247338890-247339050	K562	blood:	n/a	n/a
10	GATA3	chr1:247339164-247339262	SH-SY5Y	brain:	n/a	chr1:247339174-247339195 chr1:247339182-247339199 chr1:247339181-247339188 chr1:247339181-247339188 chr1:247339177-247339193 chr1:247339181-247339188 chr1:247339180-247339190
11	MYC	chr1:247338948-247338955	K562	blood:	n/a	n/a
12	POLR2A	chr1:247339918-247340012	MCF-7	breast:	n/a	n/a
13	RCOR1	chr1:247338942-247339142	K562	blood:	n/a	n/a
14	SPI1	chr1:247338726-247339213	HL-60	blood:	n/a	chr1:247339004-247339017
15	SPI1	chr1:247338827-247339124	HL-60	blood:	n/a	chr1:247339004-247339017
16	SPI1	chr1:247338882-247339113	K562	blood:	n/a	chr1:247339004-247339017
17	TEAD4	chr1:247338730-247339180	K562	blood:	n/a	n/a
18	ZMIZ1	chr1:247339002-247339176	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:247338637-247338687	Hela-S3	cervix:	n/a
2	chr1:247338637-247338687	AG04450	lung:	fetal
3	chr1:247338637-247338687	SK-N-SH_RA	brain:	n/a
4	chr1:247338637-247338687	MCF-7	breast:	n/a
5	chr1:247338637-247338687	AG09319	gingival:	n/a
6	chr1:247338637-247338687	CMK	blood:	n/a
7	chr1:247338637-247338687	ovcar-3	ovarian:	n/a
8	chr1:247338637-247338687	SK-N-MC	brain:	n/a
9	chr1:247338637-247338687	SK-N-SH	brain:	n/a
10	chr1:247338637-247338687	Jurkat	blood:	n/a
11	chr1:247338637-247338687	H1-hESC	embryonic stem cell:	embryo
12	chr1:247338637-247338687	HPAEpiC	pulmonary alveolar:	n/a
13	chr1:247338637-247338687	HRCEpiC	kidney:	n/a
14	chr1:247338637-247338687	HCF	heart:	n/a
15	chr1:247338637-247338687	NHDF-neo	bronchial:	n/a
16	chr1:247338637-247338687	ECC-1	luminal epithelium:	n/a
17	chr1:247338637-247338687	HRE	kidney:	n/a
18	chr1:247338637-247338687	NB4	blood:	n/a
19	chr1:247338637-247338687	AG09309	skin:	n/a
20	chr1:247338637-247338687	ProgFib	skin:	n/a
21	chr1:247338637-247338687	GM19239	blood:	n/a
22	chr1:247338637-247338687	PrEC	prostate:	n/a
23	chr1:247338637-247338687	GM12878	blood:	n/a
24	chr1:247338637-247338687	RPTEC	kidney:	n/a
25	chr1:247338637-247338687	LNCaP	prostate:	n/a
26	chr1:247338637-247338687	SAEC	small airway:	n/a
27	chr1:247338637-247338687	HAEpiC	amniotic membrane:	n/a
28	chr1:247338637-247338687	T-47D	breast:	n/a
29	chr1:247338637-247338687	HRPEpiC	eye:	n/a
30	chr1:247338637-247338687	SKMC	muscle:	n/a
31	chr1:247338637-247338687	PANC-1	pancreas:	n/a
32	chr1:247338637-247338687	HCT-116	colon:	n/a
33	chr1:247338637-247338687	HL-60	blood:	n/a
34	chr1:247338637-247338687	HCM	heart:	n/a
35	chr1:247338637-247338687	K562	blood:	n/a
36	chr1:247338637-247338687	AoSMC	blood vessel:	n/a
37	chr1:247338637-247338687	HEEpiC	esophagus:	n/a
38	chr1:247338637-247338687	GM06990	blood:	n/a
39	chr1:247338637-247338687	GM12891	blood:	n/a
40	chr1:247338637-247338687	IMR90	lung:	fetal
41	chr1:247338637-247338687	A549	lung:	n/a
42	chr1:247338637-247338687	HCPEpiC	choroid plexus:	n/a
43	chr1:247338637-247338687	Caco-2	colon:	n/a
44	chr1:247338637-247338687	PFSK-1	brain:	n/a
45	chr1:247338637-247338687	HUVEC	blood vessel:	n/a
46	chr1:247338637-247338687	NH-A	brain:	n/a
47	chr1:247338637-247338687	NT2-D1	testis:	n/a
48	chr1:247338637-247338687	Hepatocyte	liver:	n/a
49	chr1:247338637-247338687	HEK293	kidney:	embryo
50	chr1:247338637-247338687	NHBE	bronchial:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247334201..247339672-chr1:247340521..247343576,5	K562	blood:
2	chr1:247339304..247341719-chr1:247348819..247353321,4	K562	blood:
3	chr1:247338400..247340247-chr1:247370932..247373277,2	K562	blood:
4	chr1:247336789..247339124-chr1:247364118..247365695,2	K562	blood:
5	chr1:247339167..247342052-chr1:247346290..247348151,2	MCF-7	breast:
6	chr1:247340563..247342412-chr1:247369147..247370920,2	K562	blood:
7	chr1:247340250..247344678-chr1:247346787..247348448,4	K562	blood:
8	chr1:247334201..247338259-chr1:247340322..247342599,5	K562	blood:
9	chr1:247266149..247268665-chr1:247339211..247341763,2	K562	blood:
10	chr1:247339304..247343861-chr1:247346826..247352020,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF124-3	chr1:247338766-247338870	NONHSAT010759
2	lnc-NLRP3-6	chr1:247338558-247338827	NONHSAT010760

No data

Variant related genes	Relation type
ZNF124	TF binding region
ZNF124	CpG island
ENSG00000259865	chromatin interactions
ENSG00000196418	chromatin interactions
ENSG00000227671	chromatin interactions
ENSG00000224014	chromatin interactions
ENSG00000188295	chromatin interactions
ENSG00000263568	chromatin interactions
ENSG00000215795	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16846317	chr1:247338712-247338713	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180932429	chr1:247338763-247338764	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs10924933	chr1:247338764-247338765	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186390972	chr1:247338768-247338769	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs539359133	chr1:247338774-247338775	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs559269966	chr1:247338788-247338789	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs542083466	chr1:247338789-247338790	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs538434630	chr1:247338791-247338792	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs555148991	chr1:247338804-247338805	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs574841449	chr1:247338865-247338866	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs540683002	chr1:247338892-247338893	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs74152963	chr1:247338904-247338905	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577142021	chr1:247338921-247338922	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs76554249	chr1:247338936-247338937	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs562433433	chr1:247338944-247338945	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs75414205	chr1:247338970-247338971	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs541627091	chr1:247338986-247338987	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs561878696	chr1:247338994-247338995	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs527408310	chr1:247339034-247339035	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs3850820	chr1:247339064-247339065	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs570378682	chr1:247339106-247339107	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs191147488	chr1:247339121-247339122	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs3850821	chr1:247339139-247339140	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs569569425	chr1:247339142-247339143	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs538495587	chr1:247339143-247339144	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs3850822	chr1:247339170-247339171	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs111767618	chr1:247339202-247339203	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs147481244	chr1:247339224-247339225	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs568093375	chr1:247339253-247339254	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs531665290	chr1:247339265-247339266	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs139909234	chr1:247339286-247339287	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545788713	chr1:247339299-247339300	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs10924934	chr1:247339320-247339321	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs61837915	chr1:247339384-247339385	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs57151528	chr1:247339398-247339399	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs575939606	chr1:247339399-247339400	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs541683664	chr1:247339429-247339430	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs10924935	chr1:247339451-247339452	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371948588	chr1:247339472-247339473	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs376311770	chr1:247339476-247339477	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs368776715	chr1:247339481-247339482	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs547316813	chr1:247339482-247339483	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs372785546	chr1:247339486-247339487	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs369426023	chr1:247339490-247339491	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs373323301	chr1:247339493-247339494	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs374355567	chr1:247339495-247339496	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs201000280	chr1:247339498-247339499	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs540800954	chr1:247339518-247339519	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs565928350	chr1:247339529-247339530	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs61502652	chr1:247339531-247339532	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247331800-247347400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:247332800-247338800	Weak transcription	K562	blood
3	chr1:247332800-247346400	Weak transcription	Pancreas	Pancrea
4	chr1:247333000-247345800	Weak transcription	Ovary	ovary
5	chr1:247336200-247346200	Weak transcription	Dnd41	blood
6	chr1:247338400-247339200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr1:247338600-247339000	Strong transcription	Primary B cells from cord blood	blood
8	chr1:247338800-247339200	Enhancers	K562	blood
9	chr1:247339000-247342800	Weak transcription	Primary B cells from cord blood	blood
10	chr1:247339800-247340200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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