Variant report

Variant	esv33219
Chromosome Location	chr4:8598651-8601319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr4:8599078-8599278	K562	blood:	n/a	n/a
2	EP300	chr4:8599030-8599285	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chr4:8598755-8599620	SK-N-SH	brain:	n/a	n/a
4	FOSL1	chr4:8601254-8601879	HCT-116	colon:	n/a	chr4:8601574-8601585
5	FOSL1	chr4:8601284-8601870	HCT-116	colon:	n/a	chr4:8601574-8601585
6	JUN	chr4:8601026-8601824	K562	blood:	n/a	n/a
7	JUND	chr4:8601226-8601867	HCT-116	colon:	n/a	n/a
8	MAZ	chr4:8601242-8602052	IMR90	lung:	n/a	n/a
9	MXI1	chr4:8598591-8599655	SK-N-SH	brain:	n/a	n/a
10	MXI1	chr4:8601141-8601794	IMR90	lung:	n/a	n/a
11	NFIC	chr4:8601240-8601835	ECC-1	luminal epithelium:	n/a	n/a
12	NFIC	chr4:8601275-8601825	ECC-1	luminal epithelium:	n/a	n/a
13	PBX3	chr4:8599070-8599464	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr4:8598650-8598658	K562	blood:	n/a	n/a
15	POLR2A	chr4:8598763-8598795	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr4:8598664-8598695	K562	blood:	n/a	n/a
17	POLR2A	chr4:8599588-8601202	K562	blood:	n/a	n/a
18	POLR2A	chr4:8598692-8598733	H1-hESC	embryonic stem cell:	n/a	n/a
19	USF1	chr4:8600726-8601113	H1-hESC	embryonic stem cell:	n/a	n/a
20	USF1	chr4:8600847-8601014	SK-N-SH_RA	brain:	n/a	n/a
21	USF1	chr4:8600770-8601176	ECC-1	luminal epithelium:	n/a	n/a
22	USF1	chr4:8600834-8601019	SK-N-SH_RA	brain:	n/a	n/a
23	USF1	chr4:8599052-8599337	SK-N-SH_RA	brain:	n/a	n/a
24	USF1	chr4:8599066-8599439	SK-N-SH	brain:	n/a	n/a
25	USF1	chr4:8598998-8599377	SK-N-SH_RA	brain:	n/a	n/a
26	USF1	chr4:8600761-8601163	ECC-1	luminal epithelium:	n/a	n/a
27	USF2	chr4:8600845-8601102	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:8592274..8594245-chr4:8597755..8599882,2	MCF-7	breast:
2	chr4:8595995..8599950-chr4:8600230..8602284,3	K562	blood:
3	chr4:8595618..8598948-chr4:8601035..8605983,4	MCF-7	breast:
4	chr4:8596740..8598589-chr4:8600076..8602284,2	K562	blood:
5	chr4:8600582..8603192-chr4:8603240..8605634,2	K562	blood:
6	chr4:8599492..8601366-chr4:8617273..8620008,2	K562	blood:
7	chr4:8590424..8592185-chr4:8596876..8599266,2	K562	blood:
8	chr4:8595691..8598338-chr4:8600228..8602977,2	MCF-7	breast:
9	chr4:8595995..8599950-chr4:8600230..8602284,3	K562	blood:
10	chr4:8428794..8430882-chr4:8596413..8599395,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METTL19-6	chr4:8601180-8601688	NONHSAT095111

No data

Variant related genes	Relation type
CPZ	TF binding region
GPR78	TF binding region
ENSG00000087008	chromatin interactions
ENSG00000109625	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:192 , 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	rs377427951	chr4:8598653-8598654	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs3756174	chr4:8598694-8598695	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs3756173	chr4:8598698-8598699	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549043145	chr4:8598711-8598712	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs367781747	chr4:8598724-8598725	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs566199401	chr4:8598733-8598734	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs9998719	chr4:8598743-8598744	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs367825587	chr4:8598758-8598759	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs9998778	chr4:8598763-8598764	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10034521	chr4:8598775-8598776	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190594271	chr4:8598787-8598788	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs538347165	chr4:8598823-8598824	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs553421449	chr4:8598865-8598866	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs9790467	chr4:8598867-8598868	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs182025989	chr4:8598888-8598889	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs3756172	chr4:8598927-8598928	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs374955447	chr4:8598935-8598936	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs3834230	chr4:8598963-8598964	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs576663252	chr4:8598973-8598974	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs537310591	chr4:8598984-8598985	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs537117652	chr4:8599036-8599037	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs7676533	chr4:8599043-8599044	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs375573249	chr4:8599067-8599068	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs532521745	chr4:8599075-8599076	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs541553085	chr4:8599078-8599079	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs200776441	chr4:8599092-8599093	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs559870320	chr4:8599096-8599097	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs12501036	chr4:8599128-8599129	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs549156067	chr4:8599137-8599138	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs567487919	chr4:8599160-8599161	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs531641499	chr4:8599161-8599162	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs34284626	chr4:8599167-8599168	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs3796739	chr4:8599193-8599194	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570930824	chr4:8599194-8599195	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs3796738	chr4:8599199-8599200	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs3796737	chr4:8599202-8599203	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544169903	chr4:8599224-8599225	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs574502046	chr4:8599231-8599232	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs565436457	chr4:8599246-8599247	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs3796736	chr4:8599250-8599251	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs555154612	chr4:8599269-8599270	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs184265336	chr4:8599289-8599290	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs544118417	chr4:8599291-8599292	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs563313133	chr4:8599293-8599294	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs189074766	chr4:8599344-8599345	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs577343201	chr4:8599363-8599364	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs73213365	chr4:8599375-8599376	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs559932507	chr4:8599387-8599388	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs530201206	chr4:8599399-8599400	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs541915765	chr4:8599402-8599403	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8573400-8609400	Weak transcription	Right Atrium	heart
2	chr4:8596000-8599600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:8596000-8622800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:8596000-8623200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:8596200-8598800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:8596200-8600600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:8596200-8600800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:8596200-8601000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:8596200-8601000	Weak transcription	HSMMtube	muscle
10	chr4:8596200-8601200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:8596200-8601400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:8596200-8601400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:8596200-8602000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:8596200-8609000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:8596400-8600600	Weak transcription	HSMM	muscle
16	chr4:8596400-8602000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:8596400-8602000	Weak transcription	NHLF	lung
18	chr4:8597400-8604400	Weak transcription	Fetal Intestine Small	intestine
19	chr4:8597600-8600800	Weak transcription	NHDF-Ad	bronchial
20	chr4:8597600-8601000	Weak transcription	Osteobl	bone
21	chr4:8597600-8618400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:8597800-8600200	Strong transcription	Placenta	Placenta
23	chr4:8598400-8599000	Bivalent Enhancer	Fetal Stomach	stomach
24	chr4:8598400-8599400	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr4:8598400-8600000	Enhancers	Stomach Smooth Muscle	stomach
26	chr4:8598400-8600800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:8598400-8601600	Genic enhancers	Ovary	ovary
28	chr4:8598600-8601200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:8598800-8599000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:8598800-8599400	Enhancers	Rectal Smooth Muscle	rectum
31	chr4:8598800-8599600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:8598800-8609000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:8599000-8599600	Enhancers	Colon Smooth Muscle	Colon
34	chr4:8599000-8600000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:8599200-8599400	Enhancers	Fetal Heart	heart
36	chr4:8599400-8602200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr4:8599600-8599800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:8599600-8616000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:8599800-8601200	Enhancers	Spleen	Spleen
40	chr4:8599800-8609000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:8600000-8600600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:8600200-8600800	Genic enhancers	Placenta	Placenta
43	chr4:8600200-8603200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr4:8600600-8600800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr4:8600600-8601800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:8600600-8602000	Enhancers	HSMM	muscle
47	chr4:8600600-8603000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:8600600-8605800	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr4:8600800-8601600	Enhancers	NHDF-Ad	bronchial
50	chr4:8600800-8601800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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