Variant report

Variant	nsv967946
Chromosome Location	chr4:47569922-47575910
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	CEBPB	chr4:47568658-47570063	Hela-S3	cervix:	n/a	chr4:47569216-47569227
2	CTCF	chr4:47572675-47572722	ProgFib	skin:	n/a	n/a
3	CTCF	chr4:47570300-47570450	HEEpiC	esophagus:	n/a	n/a
4	E2F4	chr4:47575266-47575631	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA2	chr4:47572805-47573130	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr4:47569515-47569989	MCF-7	breast:	n/a	n/a
7	GATA3	chr4:47572806-47573101	SH-SY5Y	brain:	n/a	n/a
8	POLR2A	chr4:47570069-47570277	GM12878	blood:	n/a	n/a
9	SPI1	chr4:47570878-47571301	HL-60	blood:	n/a	n/a
10	SPI1	chr4:47574519-47574723	K562	blood:	n/a	n/a
11	STAT3	chr4:47570277-47570315	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47565772..47567712-chr4:47570354..47573060,2	K562	blood:
2	chr4:47567303..47570218-chr4:47578983..47580542,2	K562	blood:

Variant related genes	Relation type
ATP10D	TF binding region
ENSG00000145246	chromatin interactions

Extended variants
information (count: 224 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572638339	chr4:47569996-47569997	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs78983088	chr4:47570056-47570057	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs6817967	chr4:47570119-47570120	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532027897	chr4:47570136-47570137	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550321426	chr4:47570153-47570154	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191644096	chr4:47570169-47570170	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569014725	chr4:47570235-47570236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183044796	chr4:47570255-47570256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546524964	chr4:47570323-47570324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113742232	chr4:47570325-47570326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149869563	chr4:47570344-47570345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187053780	chr4:47570406-47570407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189946901	chr4:47570443-47570444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13110314	chr4:47570454-47570455	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571671083	chr4:47570560-47570561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs16860382	chr4:47570609-47570610	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557323272	chr4:47570627-47570628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62298025	chr4:47570695-47570696	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536533809	chr4:47570698-47570699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554772754	chr4:47570709-47570710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573123422	chr4:47570712-47570713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534093282	chr4:47570760-47570761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558379161	chr4:47570783-47570784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534743301	chr4:47570792-47570793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182197786	chr4:47570801-47570802	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371648994	chr4:47570817-47570818	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543911299	chr4:47570867-47570868	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553605399	chr4:47570871-47570872	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17462252	chr4:47570876-47570877	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199756910	chr4:47570881-47570882	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368388765	chr4:47570896-47570897	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560654520	chr4:47570907-47570908	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs137994896	chr4:47570959-47570960	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372352682	chr4:47570961-47570962	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200496735	chr4:47570964-47570965	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200863114	chr4:47570980-47570981	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147568390	chr4:47570981-47570982	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144659641	chr4:47571011-47571012	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199566552	chr4:47571015-47571016	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372690498	chr4:47571044-47571045	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201412941	chr4:47571055-47571056	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138541186	chr4:47571089-47571090	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76283310	chr4:47571100-47571101	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202123877	chr4:47571109-47571110	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552299579	chr4:47571124-47571125	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565285972	chr4:47571127-47571128	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532632251	chr4:47571130-47571131	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188036119	chr4:47571144-47571145	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568892444	chr4:47571145-47571146	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193079887	chr4:47571154-47571155	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Bipolar disorder	19214233	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	20952505	CNVD

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47512400-47577200	Weak transcription	Small Intestine	intestine
2	chr4:47534600-47580800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:47534600-47592000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:47536200-47571000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:47538800-47571000	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:47539600-47589000	Weak transcription	Colonic Mucosa	Colon
7	chr4:47541000-47571000	Weak transcription	Spleen	Spleen
8	chr4:47544800-47574000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:47546400-47589400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:47548800-47583800	Weak transcription	Psoas Muscle	Psoas
11	chr4:47549000-47574000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:47549400-47570800	Weak transcription	Esophagus	oesophagus
13	chr4:47549400-47570800	Weak transcription	NHLF	lung
14	chr4:47549400-47573600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:47549400-47574800	Weak transcription	Primary T cells from cord blood	blood
16	chr4:47549400-47576800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:47549600-47570800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:47553000-47570800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:47555800-47594800	Weak transcription	Stomach Mucosa	stomach
20	chr4:47556000-47570800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:47556200-47570200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:47556400-47578800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:47556400-47588000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:47560000-47570800	Weak transcription	Gastric	stomach
25	chr4:47560200-47570800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:47560200-47571000	Weak transcription	Brain Angular Gyrus	brain
27	chr4:47560200-47574600	Weak transcription	Fetal Intestine Small	intestine
28	chr4:47560200-47579400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr4:47560400-47570800	Weak transcription	Fetal Stomach	stomach
30	chr4:47560400-47573800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr4:47560600-47570800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:47560600-47573600	Weak transcription	Pancreas	Pancrea
33	chr4:47560800-47570400	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:47561000-47570000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:47561400-47571000	Weak transcription	Brain Substantia Nigra	brain
36	chr4:47561600-47570200	Weak transcription	Primary B cells from cord blood	blood
37	chr4:47563000-47570600	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:47563400-47570800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:47563600-47570800	Weak transcription	Lung	lung
40	chr4:47563600-47571000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr4:47563800-47571000	Weak transcription	Right Ventricle	heart
42	chr4:47564000-47570600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:47564000-47570800	Weak transcription	Brain Anterior Caudate	brain
44	chr4:47564000-47571000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:47564000-47589600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr4:47564600-47580800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr4:47564800-47573800	Weak transcription	Fetal Heart	heart
48	chr4:47565200-47570600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:47565800-47572600	Strong transcription	HSMMtube	muscle
50	chr4:47567200-47570800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links