Variant report

Variant	esv3377450
Chromosome Location	chr4:8502852-8506150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr4:8505147-8505247	HepG2	liver:	n/a	n/a
2	CTCF	chr4:8505640-8505790	HepG2	liver:	n/a	chr4:8505726-8505747 chr4:8505731-8505749
3	CTCF	chr4:8505672-8505796	HepG2	liver:	n/a	chr4:8505726-8505747 chr4:8505731-8505749
4	CTCF	chr4:8505680-8505830	K562	blood:	n/a	chr4:8505726-8505747 chr4:8505731-8505749
5	CTCF	chr4:8505640-8505790	WERI-Rb-1	eye:	n/a	chr4:8505726-8505747 chr4:8505731-8505749
6	CTCF	chr4:8505663-8505793	NHEK	skin:	n/a	chr4:8505726-8505747 chr4:8505731-8505749
7	CTCF	chr4:8505600-8505868	K562	blood:	n/a	chr4:8505726-8505747 chr4:8505731-8505749
8	CTCF	chr4:8506080-8506230	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr4:8505600-8505750	HMEC	breast:	n/a	chr4:8505726-8505747 chr4:8505731-8505749
10	CTCF	chr4:8505651-8505813	H1-hESC	embryonic stem cell:	n/a	chr4:8505726-8505747 chr4:8505731-8505749
11	CTCF	chr4:8505640-8505790	HRPEpiC	eye:	n/a	chr4:8505726-8505747 chr4:8505731-8505749
12	CTCF	chr4:8506100-8506250	BE2_C	brain:	n/a	n/a
13	CTCF	chr4:8505659-8505826	K562	blood:	n/a	chr4:8505726-8505747 chr4:8505731-8505749
14	EGR1	chr4:8504565-8504922	ECC-1	luminal epithelium:	n/a	chr4:8504737-8504750 chr4:8504737-8504750 chr4:8504736-8504751
15	EGR1	chr4:8504608-8504843	K562	blood:	n/a	chr4:8504737-8504750 chr4:8504737-8504750 chr4:8504736-8504751
16	EGR1	chr4:8504584-8504854	K562	blood:	n/a	chr4:8504737-8504750 chr4:8504737-8504750 chr4:8504736-8504751
17	EP300	chr4:8505779-8506732	ECC-1	luminal epithelium:	n/a	n/a
18	EP300	chr4:8505830-8506588	ECC-1	luminal epithelium:	n/a	n/a
19	ESR1	chr4:8504575-8504960	ECC-1	luminal epithelium:	n/a	n/a
20	ESR1	chr4:8506032-8506400	ECC-1	luminal epithelium:	n/a	n/a
21	ESR1	chr4:8506010-8506799	ECC-1	luminal epithelium:	n/a	n/a
22	ESR1	chr4:8505960-8506815	ECC-1	luminal epithelium:	n/a	n/a
23	HMGN3	chr4:8505610-8505799	K562	blood:	n/a	n/a
24	IRF1	chr4:8505570-8505596	K562	blood:	n/a	n/a
25	JUN	chr4:8504666-8504813	HepG2	liver:	n/a	chr4:8504716-8504729
26	JUN	chr4:8504502-8505173	K562	blood:	n/a	chr4:8504716-8504729
27	JUND	chr4:8504637-8504875	H1-hESC	embryonic stem cell:	n/a	n/a
28	JUND	chr4:8504513-8504933	K562	blood:	n/a	n/a
29	JUND	chr4:8504137-8504145	K562	blood:	n/a	n/a
30	MAX	chr4:8505989-8506465	ECC-1	luminal epithelium:	n/a	n/a
31	MAZ	chr4:8504600-8504847	K562	blood:	n/a	n/a
32	MAZ	chr4:8506113-8506257	K562	blood:	n/a	n/a
33	NFIC	chr4:8504167-8505078	ECC-1	luminal epithelium:	n/a	n/a
34	NFIC	chr4:8505464-8506730	ECC-1	luminal epithelium:	n/a	n/a
35	NFIC	chr4:8505812-8506752	ECC-1	luminal epithelium:	n/a	n/a
36	NR3C1	chr4:8506022-8506388	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr4:8504219-8504452	K562	blood:	n/a	n/a
38	POLR2A	chr4:8506118-8507238	K562	blood:	n/a	n/a
39	RAD21	chr4:8505503-8505920	H1-hESC	embryonic stem cell:	n/a	chr4:8505732-8505745 chr4:8505729-8505748 chr4:8505731-8505743
40	RAD21	chr4:8505601-8505791	K562	blood:	n/a	chr4:8505732-8505745 chr4:8505729-8505748 chr4:8505731-8505743
41	RAD21	chr4:8505634-8505833	H1-hESC	embryonic stem cell:	n/a	chr4:8505732-8505745 chr4:8505729-8505748 chr4:8505731-8505743
42	RAD21	chr4:8506003-8506368	ECC-1	luminal epithelium:	n/a	chr4:8506167-8506181
43	RAD21	chr4:8505518-8505928	ECC-1	luminal epithelium:	n/a	chr4:8505732-8505745 chr4:8505729-8505748 chr4:8505731-8505743
44	RAD21	chr4:8505565-8505791	HepG2	liver:	n/a	chr4:8505732-8505745 chr4:8505729-8505748 chr4:8505731-8505743
45	RCOR1	chr4:8504575-8504906	K562	blood:	n/a	n/a
46	RCOR1	chr4:8505668-8505713	K562	blood:	n/a	n/a
47	TCF12	chr4:8505789-8506674	ECC-1	luminal epithelium:	n/a	chr4:8506122-8506132
48	TCF12	chr4:8505876-8506726	ECC-1	luminal epithelium:	n/a	chr4:8506122-8506132
49	TEAD4	chr4:8505929-8506595	ECC-1	luminal epithelium:	n/a	n/a
50	TEAD4	chr4:8504555-8504906	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8479557..8483754-chr4:8505033..8507334,3	K562	blood:
2	chr4:8500499..8503047-chr4:8505239..8508077,2	K562	blood:
3	chr4:8499417..8502342-chr4:8505170..8507298,2	MCF-7	breast:
4	chr4:8500815..8505571-chr4:8524859..8530536,4	MCF-7	breast:
5	chr4:8501425..8503291-chr4:8548491..8551263,2	MCF-7	breast:
6	chr4:8500499..8503047-chr4:8505239..8508077,2	K562	blood:

Variant related genes	Relation type
ENSG00000205959	TF binding region

Extended variants
information (count: 165 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:165 , 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	rs560597560	chr4:8502867-8502868	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150769797	chr4:8502883-8502884	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542274661	chr4:8502945-8502946	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563660096	chr4:8502963-8502964	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575846171	chr4:8502995-8502996	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561802941	chr4:8503022-8503023	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs77247017	chr4:8503025-8503026	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs564932947	chr4:8503033-8503034	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs550907927	chr4:8503067-8503068	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs114171994	chr4:8503110-8503111	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs547388959	chr4:8503165-8503166	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs570564921	chr4:8503173-8503174	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs113175032	chr4:8503177-8503178	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs6447875	chr4:8503206-8503207	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs13152718	chr4:8503222-8503223	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs529923507	chr4:8503227-8503228	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs13118179	chr4:8503257-8503258	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs547816389	chr4:8503276-8503277	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs13111630	chr4:8503281-8503282	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370102107	chr4:8503289-8503290	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs370764113	chr4:8503315-8503316	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs551815290	chr4:8503356-8503357	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs570974330	chr4:8503358-8503359	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs1949733	chr4:8503359-8503360	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
25	rs553271072	chr4:8503393-8503394	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs569493373	chr4:8503429-8503430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536143685	chr4:8503451-8503452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557434766	chr4:8503480-8503481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536550003	chr4:8503524-8503525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138059964	chr4:8503539-8503540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546327422	chr4:8503557-8503558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564568570	chr4:8503561-8503562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576985691	chr4:8503564-8503565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116469264	chr4:8503594-8503595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559266967	chr4:8503641-8503642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529983615	chr4:8503676-8503677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548034371	chr4:8503682-8503683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2222461	chr4:8503691-8503692	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185857567	chr4:8503692-8503693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117931365	chr4:8503785-8503786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552009821	chr4:8503806-8503807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149511755	chr4:8503848-8503849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60624918	chr4:8503854-8503855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs16842409	chr4:8503868-8503869	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568554943	chr4:8503933-8503934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370423617	chr4:8503957-8503958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536156137	chr4:8503969-8503970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557644691	chr4:8503971-8503972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569288545	chr4:8503984-8503985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539814057	chr4:8503985-8503986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8491000-8505200	Weak transcription	Fetal Brain Female	brain
2	chr4:8497000-8504200	Weak transcription	Right Atrium	heart
3	chr4:8501600-8503000	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:8501600-8503600	Weak transcription	Adipose Nuclei	Adipose
5	chr4:8501600-8504000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:8501600-8504000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:8501600-8504000	Weak transcription	Fetal Heart	heart
8	chr4:8501600-8504200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:8501600-8504200	Weak transcription	Esophagus	oesophagus
10	chr4:8501600-8504200	Weak transcription	Pancreas	Pancrea
11	chr4:8501600-8504400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:8501600-8504400	Weak transcription	Lung	lung
13	chr4:8501600-8504600	Weak transcription	Brain Anterior Caudate	brain
14	chr4:8501600-8504600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:8501600-8505200	Weak transcription	Brain Substantia Nigra	brain
16	chr4:8501600-8505600	Weak transcription	Gastric	stomach
17	chr4:8501600-8505800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr4:8501600-8505800	Weak transcription	Colonic Mucosa	Colon
19	chr4:8501600-8505800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:8501600-8506000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:8501600-8507000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:8501600-8507000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:8501600-8507400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:8501600-8507400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:8501600-8507600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:8501600-8507600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:8501600-8507600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:8501600-8507800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:8501600-8507800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:8501600-8507800	Weak transcription	Brain Angular Gyrus	brain
31	chr4:8501800-8510600	Enhancers	Ovary	ovary
32	chr4:8502600-8503000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr4:8502600-8504000	Enhancers	Fetal Muscle Leg	muscle
34	chr4:8502800-8503000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:8502800-8504800	Enhancers	HSMMtube	muscle
36	chr4:8502800-8505800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:8502800-8512800	Enhancers	Placenta	Placenta
38	chr4:8503000-8503400	Bivalent Enhancer	HepG2	liver
39	chr4:8503000-8504200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:8503000-8504200	Enhancers	Fetal Muscle Trunk	muscle
41	chr4:8503000-8505400	Enhancers	HSMM	muscle
42	chr4:8503000-8506800	Enhancers	Brain Hippocampus Middle	brain
43	chr4:8503600-8509400	Enhancers	Right Ventricle	heart
44	chr4:8503600-8509800	Enhancers	Adipose Nuclei	Adipose
45	chr4:8503800-8505800	Enhancers	Fetal Lung	lung
46	chr4:8504000-8504400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:8504000-8504600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr4:8504000-8504600	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr4:8504000-8506200	Enhancers	Fetal Heart	heart
50	chr4:8504200-8504600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links