Variant report

Variant	esv3386160
Chromosome Location	chr4:1071252-1074550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr4:1072482-1073095	HepG2	liver:	n/a	n/a
2	FOXA2	chr4:1072580-1073045	A549	lung:	n/a	n/a
3	GABPA	chr4:1072634-1073081	HepG2	liver:	n/a	n/a
4	GABPA	chr4:1072724-1072964	HepG2	liver:	n/a	n/a
5	IRF4	chr4:1072575-1073037	GM12878	blood:	n/a	n/a
6	MAX	chr4:1074533-1075112	H1-hESC	embryonic stem cell:	n/a	n/a
7	PAX5	chr4:1072591-1073100	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:1072583-1072627	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr4:1072521-1072533	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr4:1072659-1072696	Gliobla	brain:	n/a	n/a
11	POLR2A	chr4:1072541-1072663	Hela-S3	cervix:	n/a	n/a
12	SIX5	chr4:1072731-1073015	K562	blood:	n/a	n/a
13	TCF12	chr4:1072759-1072982	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1071823..1074070-chr4:1340173..1342424,2	MCF-7	breast:
2	chr4:1070691..1072253-chr4:1073227..1075673,2	K562	blood:
3	chr4:1069527..1071901-chr4:1073207..1075121,2	MCF-7	breast:
4	chr4:1069527..1071901-chr4:1073207..1075121,2	MCF-7	breast:
5	chr4:1070226..1072949-chr4:1104004..1105677,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGFRL1-7	chr4:1071319-1072818	NONHSAT094657
2	lnc-FGFRL1-7	chr4:1073017-1073034	NONHSAT094657

No data

Variant related genes	Relation type
RNF212	TF binding region
ENSG00000163945	chromatin interactions
ENSG00000178222	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537298370	chr4:1071260-1071261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs550693972	chr4:1071274-1071275	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374282658	chr4:1071372-1071373	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs556769720	chr4:1071389-1071390	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs116675283	chr4:1071445-1071446	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs147955506	chr4:1071449-1071450	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs184043580	chr4:1071450-1071451	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs533992829	chr4:1071467-1071468	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs558644713	chr4:1071492-1071493	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs140571523	chr4:1071508-1071509	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs544342509	chr4:1071578-1071579	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs34427379	chr4:1071584-1071585	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs188575951	chr4:1071585-1071586	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs150444411	chr4:1071592-1071593	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs542893236	chr4:1071632-1071633	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs561270671	chr4:1071643-1071644	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs528630581	chr4:1071676-1071677	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs546790444	chr4:1071689-1071690	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs114160701	chr4:1071690-1071691	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs192334979	chr4:1071735-1071736	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs145249080	chr4:1071736-1071737	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs115953578	chr4:1071750-1071751	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs570502815	chr4:1071778-1071779	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs536665950	chr4:1071790-1071791	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs548469197	chr4:1071799-1071800	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs566781337	chr4:1071835-1071836	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs78629599	chr4:1071845-1071846	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs534729897	chr4:1071856-1071857	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs568966213	chr4:1071862-1071863	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs558783321	chr4:1071881-1071882	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs371708881	chr4:1071884-1071885	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs1466216	chr4:1071907-1071908	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs537530437	chr4:1071915-1071916	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs556253767	chr4:1071966-1071967	Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs370009317	chr4:1072000-1072001	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs184138911	chr4:1072024-1072025	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs541443305	chr4:1072025-1072026	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs554805324	chr4:1072035-1072036	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs573194444	chr4:1072106-1072107	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs574811137	chr4:1072111-1072112	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs149157258	chr4:1072115-1072116	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs565318892	chr4:1072161-1072162	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs532768353	chr4:1072162-1072163	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs544350678	chr4:1072167-1072168	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs367774235	chr4:1072187-1072188	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs145003816	chr4:1072191-1072192	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs1466215	chr4:1072220-1072221	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566918413	chr4:1072236-1072237	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs369241654	chr4:1072242-1072243	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs552479590	chr4:1072273-1072274	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD
Breast cancer	20932292	CNVD
Cancer	20164919	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1064600-1071600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:1066400-1076000	Weak transcription	Right Atrium	heart
3	chr4:1067000-1071600	Weak transcription	Spleen	Spleen
4	chr4:1067400-1071600	Weak transcription	Pancreas	Pancrea
5	chr4:1070400-1073000	Weak transcription	Esophagus	oesophagus
6	chr4:1071600-1072000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:1071600-1072200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:1071600-1072200	Genic enhancers	Pancreas	Pancrea
9	chr4:1071600-1072800	Enhancers	Spleen	Spleen
10	chr4:1072000-1072200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:1072200-1074800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:1072200-1075400	Weak transcription	Pancreas	Pancrea
13	chr4:1073000-1073200	Enhancers	Esophagus	oesophagus
14	chr4:1073200-1073400	Enhancers	Lung	lung
15	chr4:1073200-1074200	Weak transcription	Esophagus	oesophagus
16	chr4:1073600-1075600	Weak transcription	Lung	lung
17	chr4:1073800-1074000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:1074000-1075600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:1074400-1074600	Enhancers	Esophagus	oesophagus

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