Variant report

Variant	esv3464750
Chromosome Location	chr4:10147033-10147379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:244)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr4:10147048-10147320	GM12878	blood:	n/a	n/a
2	NR3C1	chr4:10146968-10147383	A549	lung:	n/a	n/a
3	NR3C1	chr4:10146983-10147392	A549	lung:	n/a	n/a
4	POU2F2	chr4:10146897-10147416	GM12891	blood:	n/a	n/a
5	SRF	chr4:10147048-10147350	GM12878	blood:	n/a	n/a
6	TCF3	chr4:10147119-10147422	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:10147330-10147380	MCF10A-Er-Src	breast:	n/a
2	chr4:10147302-10147352	AoSMC	blood vessel:	n/a
3	chr4:10147302-10147352	HepG2	liver:	n/a
4	chr4:10147038-10147088	ovcar-3	ovarian:	n/a
5	chr4:10147038-10147088	PANC-1	pancreas:	n/a
6	chr4:10147038-10147088	Hepatocyte	liver:	n/a
7	chr4:10147302-10147352	NB4	blood:	n/a
8	chr4:10147038-10147088	GM06990	blood:	n/a
9	chr4:10147100-10147150	MCF10A-Er-Src	breast:	n/a
10	chr4:10147330-10147380	HCF	heart:	n/a
11	chr4:10147330-10147380	GM19239	blood:	n/a
12	chr4:10147100-10147150	GM12891	blood:	n/a
13	chr4:10147330-10147380	HEEpiC	esophagus:	n/a
14	chr4:10147038-10147088	AG10803	skin:	n/a
15	chr4:10147330-10147380	AG10803	skin:	n/a
16	chr4:10147302-10147352	NHDF-neo	bronchial:	n/a
17	chr4:10147038-10147088	HCM	heart:	n/a
18	chr4:10147100-10147150	Caco-2	colon:	n/a
19	chr4:10147100-10147150	HCM	heart:	n/a
20	chr4:10147330-10147380	HMEC	breast:	n/a
21	chr4:10147038-10147088	HRCEpiC	kidney:	n/a
22	chr4:10147330-10147380	AG09319	gingival:	n/a
23	chr4:10147038-10147088	Jurkat	blood:	n/a
24	chr4:10147100-10147150	ECC-1	luminal epithelium:	n/a
25	chr4:10147330-10147380	HIPEpiC	eye:	n/a
26	chr4:10147038-10147088	HCF	heart:	n/a
27	chr4:10147302-10147352	Caco-2	colon:	n/a
28	chr4:10147302-10147352	AG09309	skin:	n/a
29	chr4:10147038-10147088	GM19239	blood:	n/a
30	chr4:10147330-10147380	HPAEpiC	pulmonary alveolar:	n/a
31	chr4:10147302-10147352	HEK293	kidney:	embryo
32	chr4:10147038-10147088	BE2_C	brain:	n/a
33	chr4:10147330-10147380	ovcar-3	ovarian:	n/a
34	chr4:10147330-10147380	IMR90	lung:	fetal
35	chr4:10147038-10147088	AG09319	gingival:	n/a
36	chr4:10147038-10147088	NHBE	bronchial:	n/a
37	chr4:10147038-10147088	HRE	kidney:	n/a
38	chr4:10147302-10147352	HRCEpiC	kidney:	n/a
39	chr4:10147330-10147380	NH-A	brain:	n/a
40	chr4:10147302-10147352	U87	brain:	n/a
41	chr4:10147330-10147380	H1-hESC	embryonic stem cell:	embryo
42	chr4:10147302-10147352	NHBE	bronchial:	n/a
43	chr4:10147302-10147352	HCF	heart:	n/a
44	chr4:10147302-10147352	K562	blood:	n/a
45	chr4:10147302-10147352	HNPCEpiC	eye:	n/a
46	chr4:10147038-10147088	HEK293	kidney:	embryo
47	chr4:10147302-10147352	ovcar-3	ovarian:	n/a
48	chr4:10147330-10147380	PrEC	prostate:	n/a
49	chr4:10147100-10147150	PFSK-1	brain:	n/a
50	chr4:10147302-10147352	HEEpiC	esophagus:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10146309..10149123-chr4:10156130..10158993,2	K562	blood:
2	chr4:10142468..10145387-chr4:10146611..10148310,2	MCF-7	breast:
3	chr4:10141623..10144820-chr4:10145857..10148531,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250393	TF binding region
ENSG00000250393	CpG island
ENSG00000250393	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537619210	chr4:10147038-10147039	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143713259	chr4:10147039-10147040	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570442853	chr4:10147042-10147043	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555641212	chr4:10147043-10147044	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs71603992	chr4:10147046-10147047	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552645641	chr4:10147051-10147052	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs373582160	chr4:10147059-10147060	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541695613	chr4:10147063-10147064	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114772240	chr4:10147073-10147074	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs575133130	chr4:10147089-10147090	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs62287542	chr4:10147096-10147097	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
12	rs376327248	chr4:10147104-10147105	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565425444	chr4:10147118-10147119	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs62287543	chr4:10147119-10147120	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541425624	chr4:10147124-10147125	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111372501	chr4:10147127-10147128	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201495808	chr4:10147139-10147140	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs55864256	chr4:10147141-10147142	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs79827556	chr4:10147142-10147143	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530437577	chr4:10147147-10147148	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112884838	chr4:10147165-10147166	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111572303	chr4:10147173-10147174	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111643475	chr4:10147188-10147189	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs113054296	chr4:10147196-10147197	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs112523124	chr4:10147211-10147212	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs111863889	chr4:10147219-10147220	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112630793	chr4:10147234-10147235	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs561981299	chr4:10147242-10147243	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs111907621	chr4:10147257-10147258	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111288429	chr4:10147265-10147266	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548927302	chr4:10147277-10147278	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs527493268	chr4:10147279-10147280	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112707712	chr4:10147280-10147281	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549270788	chr4:10147284-10147285	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369632889	chr4:10147288-10147289	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs75560203	chr4:10147302-10147303	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs80023318	chr4:10147303-10147304	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570527548	chr4:10147308-10147309	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112020679	chr4:10147311-10147312	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs62287545	chr4:10147325-10147326	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73808744	chr4:10147326-10147327	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567747751	chr4:10147330-10147331	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs62287546	chr4:10147331-10147332	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs79681691	chr4:10147335-10147336	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs62287547	chr4:10147342-10147343	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs192275124	chr4:10147349-10147350	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112183803	chr4:10147353-10147354	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566674775	chr4:10147372-10147373	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10142800-10151800	Weak transcription	Spleen	Spleen
2	chr4:10143200-10149800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:10146400-10147600	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:10146600-10147200	Bivalent Enhancer	Primary B cells from cord blood	blood

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