Variant report

Variant	nsv966337
Chromosome Location	chr4:166157947-166176361
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	BACH1	chr4:166176000-166176200	K562	blood:	n/a	n/a
2	BACH1	chr4:166176027-166176190	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr4:166159051-166159357	GM12878	blood:	n/a	n/a
4	BATF	chr4:166159119-166159356	GM12878	blood:	n/a	n/a
5	CEBPB	chr4:166170151-166170442	IMR90	lung:	n/a	chr4:166170340-166170351 chr4:166170338-166170351
6	CEBPB	chr4:166170198-166170399	Hela-S3	cervix:	n/a	chr4:166170340-166170351 chr4:166170338-166170351
7	CTCF	chr4:166158115-166158204	Medullo	brain:	n/a	n/a
8	CTCF	chr4:166166766-166166774	Spleen_OC	spleen:	n/a	n/a
9	E2F4	chr4:166170130-166170557	MCF10A-Er-Src	breast:	n/a	chr4:166170311-166170320
10	FOS	chr4:166170001-166170443	MCF10A-Er-Src	breast:	n/a	chr4:166170312-166170321
11	FOS	chr4:166159398-166159599	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr4:166169529-166169752	MCF10A-Er-Src	breast:	n/a	chr4:166169603-166169613 chr4:166169603-166169613
13	FOS	chr4:166159394-166159603	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr4:166169993-166170640	MCF10A-Er-Src	breast:	n/a	chr4:166170312-166170321
15	FOS	chr4:166169987-166170558	MCF10A-Er-Src	breast:	n/a	chr4:166170312-166170321
16	FOS	chr4:166162055-166162255	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr4:166159385-166159603	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr4:166170007-166170515	MCF10A-Er-Src	breast:	n/a	chr4:166170312-166170321
19	IRF4	chr4:166159021-166159492	GM12878	blood:	n/a	n/a
20	KAP1	chr4:166159249-166159583	U2OS	brain:	n/a	n/a
21	KAP1	chr4:166159228-166159635	HEK293	kidney:	n/a	n/a
22	MAFF	chr4:166175930-166176294	HepG2	liver:	n/a	chr4:166176099-166176117
23	MAFF	chr4:166175925-166176285	K562	blood:	n/a	chr4:166176099-166176117
24	MAFK	chr4:166175936-166176237	IMR90	lung:	n/a	chr4:166176106-166176115 chr4:166176106-166176116
25	MAFK	chr4:166175925-166176296	HepG2	liver:	n/a	chr4:166176106-166176115 chr4:166176106-166176116
26	MAFK	chr4:166175993-166176292	K562	blood:	n/a	chr4:166176106-166176115 chr4:166176106-166176116
27	MAFK	chr4:166175928-166176285	HepG2	liver:	n/a	chr4:166176106-166176115 chr4:166176106-166176116
28	MAFK	chr4:166175936-166176239	H1-hESC	embryonic stem cell:	n/a	chr4:166176106-166176115 chr4:166176106-166176116
29	MAX	chr4:166169481-166169793	NB4	blood:	n/a	chr4:166169647-166169657 chr4:166169647-166169658 chr4:166169648-166169658 chr4:166169646-166169659
30	MYC	chr4:166170093-166170426	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr4:166159397-166159611	MCF10A-Er-Src	breast:	n/a	n/a
32	MYC	chr4:166159394-166159593	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr4:166161443-166161620	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr4:166169594-166169682	MCF10A-Er-Src	breast:	n/a	chr4:166169647-166169657 chr4:166169647-166169658 chr4:166169648-166169658 chr4:166169646-166169659
35	MYC	chr4:166170082-166170429	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr4:166161465-166161629	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr4:166169590-166169671	MCF10A-Er-Src	breast:	n/a	chr4:166169647-166169657 chr4:166169647-166169658 chr4:166169648-166169658 chr4:166169646-166169659
38	MYC	chr4:166169497-166169697	NB4	blood:	n/a	chr4:166169647-166169657 chr4:166169647-166169658 chr4:166169648-166169658 chr4:166169646-166169659
39	PAX5	chr4:166158062-166158301	GM12878	blood:	n/a	chr4:166158141-166158159 chr4:166158140-166158157
40	PAX5	chr4:166158056-166158265	GM12878	blood:	n/a	chr4:166158141-166158159 chr4:166158140-166158157
41	PAX5	chr4:166158038-166158296	GM12878	blood:	n/a	chr4:166158141-166158159 chr4:166158140-166158157
42	POLR2A	chr4:166170234-166170365	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr4:166159382-166159469	Gliobla	brain:	n/a	n/a
44	POLR2A	chr4:166165601-166165657	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr4:166159426-166159683	ProgFib	skin:	n/a	n/a
46	POLR2A	chr4:166170162-166170565	MCF10A-Er-Src	breast:	n/a	n/a
47	RUNX3	chr4:166169444-166169744	GM12878	blood:	n/a	n/a
48	SPI1	chr4:166159141-166159365	GM12878	blood:	n/a	chr4:166159279-166159288
49	SPI1	chr4:166158980-166159489	GM12891	blood:	n/a	chr4:166159279-166159288
50	SPI1	chr4:166159066-166159445	GM12878	blood:	n/a	chr4:166159279-166159288

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:166174096..166176952-chr4:166248446..166250542,2	MCF-7	breast:

Variant related genes	Relation type
KLHL2	TF binding region
RNU4-87P	TF binding region
ENSG00000052802	chromatin interactions

Extended variants
information (count: 598 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201431326	chr4:166158052-166158053	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs565863129	chr4:166158072-166158073	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs536367229	chr4:166158085-166158086	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200331691	chr4:166158099-166158100	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs554507088	chr4:166158115-166158116	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs576036217	chr4:166158201-166158202	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs537700662	chr4:166158305-166158306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559030791	chr4:166158316-166158317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369699989	chr4:166158323-166158324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565866991	chr4:166158386-166158387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201389722	chr4:166158465-166158466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541293760	chr4:166158530-166158531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560012127	chr4:166158638-166158639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2322016	chr4:166158674-166158675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374282468	chr4:166158677-166158678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2874658	chr4:166158678-166158679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572138994	chr4:166158702-166158703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542755412	chr4:166158763-166158764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3864145	chr4:166158778-166158779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560821937	chr4:166158812-166158813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531382211	chr4:166158870-166158871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3864146	chr4:166158873-166158874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550039972	chr4:166158916-166158917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs59422241	chr4:166159011-166159012	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs532312269	chr4:166159012-166159013	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs547246280	chr4:166159036-166159037	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs565553576	chr4:166159067-166159068	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs61543782	chr4:166159093-166159094	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs548277349	chr4:166159095-166159096	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs569709610	chr4:166159140-166159141	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs192167740	chr4:166159142-166159143	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs571710884	chr4:166159154-166159155	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs577442585	chr4:166159163-166159164	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs368075828	chr4:166159180-166159181	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs16999615	chr4:166159190-166159191	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs371900603	chr4:166159208-166159209	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs557333849	chr4:166159226-166159227	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs28575657	chr4:166159241-166159242	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs575091086	chr4:166159258-166159259	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs542741460	chr4:166159301-166159302	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs561007702	chr4:166159325-166159326	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs3817246	chr4:166159326-166159327	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551153893	chr4:166159404-166159405	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs183537028	chr4:166159414-166159415	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs555398197	chr4:166159420-166159421	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs112331869	chr4:166159469-166159470	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
47	rs3817244	chr4:166159479-166159480	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559074109	chr4:166159532-166159533	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs529882937	chr4:166159570-166159571	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs548265404	chr4:166159571-166159572	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166129600-166196800	Weak transcription	Pancreas	Pancrea
2	chr4:166130400-166176800	Weak transcription	Fetal Intestine Small	intestine
3	chr4:166130600-166200800	Weak transcription	Lung	lung
4	chr4:166131600-166162800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:166131600-166165800	Weak transcription	Gastric	stomach
6	chr4:166131600-166196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:166132200-166193800	Weak transcription	Fetal Brain Female	brain
8	chr4:166135800-166159000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:166136000-166176800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:166137600-166162800	Weak transcription	NH-A	brain
11	chr4:166137800-166194200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:166138000-166161600	Weak transcription	HSMMtube	muscle
13	chr4:166138200-166168800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:166138400-166185600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:166142800-166165800	Weak transcription	Esophagus	oesophagus
16	chr4:166142800-166176800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:166143800-166159400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:166144000-166159400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:166144000-166161200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:166144000-166162400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:166144000-166163200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:166144000-166165000	Weak transcription	Primary B cells from cord blood	blood
23	chr4:166144000-166165400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:166144000-166176000	Weak transcription	Brain Hippocampus Middle	brain
25	chr4:166144200-166160200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:166144200-166168800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:166144200-166168800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:166144200-166168800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:166144600-166159200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr4:166144600-166159200	Weak transcription	Brain Anterior Caudate	brain
31	chr4:166144600-166159200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:166144600-166159800	Weak transcription	Adipose Nuclei	Adipose
33	chr4:166144600-166218800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:166144800-166159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:166144800-166159400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:166144800-166159400	Weak transcription	Liver	Liver
37	chr4:166144800-166176200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr4:166146400-166160600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:166147000-166159200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:166147000-166165400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:166147000-166176400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:166148600-166162600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr4:166149000-166159200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:166149000-166160400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:166151200-166168400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr4:166151200-166176000	Weak transcription	Dnd41	blood
47	chr4:166151400-166159800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:166151400-166161600	Weak transcription	Fetal Intestine Large	intestine
49	chr4:166151400-166168400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr4:166152000-166163200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links