Variant report

Variant	esv3584816
Chromosome Location	chr4:149254670-149293317
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	BATF	chr4:149267889-149268126	GM12878	blood:	n/a	chr4:149267981-149267992
2	CEBPB	chr4:149256328-149256664	IMR90	lung:	n/a	chr4:149256494-149256507
3	CEBPB	chr4:149256374-149256650	HepG2	liver:	n/a	chr4:149256494-149256507
4	CEBPB	chr4:149256373-149256675	H1-hESC	embryonic stem cell:	n/a	chr4:149256494-149256507
5	CEBPB	chr4:149256391-149256614	A549	lung:	n/a	chr4:149256494-149256507
6	CEBPB	chr4:149289515-149289754	HepG2	liver:	n/a	chr4:149289616-149289627
7	CEBPB	chr4:149256423-149256580	K562	blood:	n/a	chr4:149256494-149256507
8	CTCF	chr4:149263137-149263216	Pancreas_OC	pancreas:	n/a	chr4:149263171-149263189 chr4:149263166-149263187
9	CTCF	chr4:149283096-149283189	GM10248	blood:	n/a	n/a
10	CTCF	chr4:149263020-149263170	RPTEC	kidney:	n/a	n/a
11	CTCF	chr4:149263060-149263210	WERI-Rb-1	eye:	n/a	chr4:149263171-149263189 chr4:149263166-149263187
12	CTCF	chr4:149263080-149263230	HRPEpiC	eye:	n/a	chr4:149263171-149263189 chr4:149263166-149263187
13	CTCF	chr4:149263147-149263180	HepG2	liver:	n/a	n/a
14	CTCF	chr4:149263160-149263310	HRE	kidney:	n/a	chr4:149263171-149263189 chr4:149263166-149263187
15	CTCF	chr4:149263260-149263410	RPTEC	kidney:	n/a	n/a
16	CTCF	chr4:149267340-149267490	WI-38	lung:	n/a	n/a
17	E2F4	chr4:149264964-149264995	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr4:149281655-149281803	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr4:149276695-149277439	HUVEC	blood vessel:	n/a	n/a
20	FOS	chr4:149274629-149275686	HUVEC	blood vessel:	n/a	chr4:149274902-149274913 chr4:149274905-149274912 chr4:149274903-149274912
21	FOS	chr4:149271390-149271540	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr4:149271397-149271494	MCF10A-Er-Src	breast:	n/a	n/a
23	GATA2	chr4:149255929-149256335	SH-SY5Y	brain:	n/a	n/a
24	GATA2	chr4:149274840-149275918	HUVEC	blood vessel:	n/a	n/a
25	GATA2	chr4:149276429-149277394	HUVEC	blood vessel:	n/a	chr4:149276632-149276639
26	GATA3	chr4:149256068-149256469	SH-SY5Y	brain:	n/a	n/a
27	IRF1	chr4:149278678-149278697	K562	blood:	n/a	n/a
28	JUN	chr4:149275395-149275689	HUVEC	blood vessel:	n/a	n/a
29	JUND	chr4:149256163-149256359	HepG2	liver:	n/a	n/a
30	JUND	chr4:149267944-149268098	HepG2	liver:	n/a	chr4:149267983-149267994
31	MAFF	chr4:149287703-149287903	HepG2	liver:	n/a	chr4:149287825-149287843
32	MAFK	chr4:149287661-149287965	HepG2	liver:	n/a	n/a
33	MAFK	chr4:149287752-149287856	HepG2	liver:	n/a	n/a
34	MYC	chr4:149291242-149291380	H1-hESC	embryonic stem cell:	n/a	n/a
35	MYC	chr4:149291221-149291234	H1-hESC	embryonic stem cell:	n/a	n/a
36	NFYB	chr4:149254513-149254806	GM12878	blood:	n/a	n/a
37	POLR2A	chr4:149262494-149262542	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr4:149257437-149257444	Gliobla	brain:	n/a	n/a
39	POLR2A	chr4:149275569-149275636	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr4:149276524-149277102	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr4:149283990-149284074	GM12878	blood:	n/a	n/a
42	POLR2A	chr4:149282151-149282351	MCF10A-Er-Src	breast:	n/a	n/a
43	SETDB1	chr4:149260719-149261018	U2OS	brain:	n/a	n/a
44	STAT3	chr4:149278363-149278563	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr4:149280606-149281032	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr4:149277159-149277267	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr4:149264660-149264860	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr4:149279917-149280117	MCF10A-Er-Src	breast:	n/a	chr4:149280011-149280034 chr4:149280023-149280030
49	STAT3	chr4:149283263-149283275	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr4:149256378-149256529	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:149254880..149257855-chr4:149263037..149265011,2	MCF-7	breast:
2	chr4:149254880..149257855-chr4:149263037..149265011,2	MCF-7	breast:
3	chr4:149284454..149286558-chr4:149363664..149365352,2	MCF-7	breast:

Variant related genes	Relation type
NR3C2	TF binding region
ENSG00000151623	chromatin interactions

Extended variants
information (count: 1598 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1598 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7688209	chr4:149254670-149254671	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372805275	chr4:149254688-149254689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376898255	chr4:149254692-149254693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3920217	chr4:149254723-149254724	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538585225	chr4:149254732-149254733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376518904	chr4:149254733-149254734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558566795	chr4:149254761-149254762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190857340	chr4:149254767-149254768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180881163	chr4:149254769-149254770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554096758	chr4:149254800-149254801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374542586	chr4:149254803-149254804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76336258	chr4:149254811-149254812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574197503	chr4:149254818-149254819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185858685	chr4:149254854-149254855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190186478	chr4:149254889-149254890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560154188	chr4:149254899-149254900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28723458	chr4:149254924-149254925	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs78616282	chr4:149254952-149254953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35978319	chr4:149254975-149254976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199851676	chr4:149254978-149254979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13117325	chr4:149254985-149254986	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs79921116	chr4:149254996-149254997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527937241	chr4:149255047-149255048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11732130	chr4:149255055-149255056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs138456594	chr4:149255103-149255104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558558565	chr4:149255187-149255188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187425747	chr4:149255211-149255212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549452688	chr4:149255307-149255308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569557391	chr4:149255316-149255317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17024611	chr4:149255365-149255366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs368532219	chr4:149255371-149255372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577500988	chr4:149255420-149255421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565845320	chr4:149255428-149255429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534885265	chr4:149255432-149255433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12647673	chr4:149255448-149255449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs386680643	chr4:149255469-149255470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111334785	chr4:149255481-149255482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556685362	chr4:149255485-149255486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576756134	chr4:149255493-149255494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191989640	chr4:149255539-149255540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545272385	chr4:149255551-149255552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575354479	chr4:149255572-149255573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs66586588	chr4:149255589-149255590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12641579	chr4:149255590-149255591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375989833	chr4:149255630-149255631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572771962	chr4:149255641-149255642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534679366	chr4:149255642-149255643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540210376	chr4:149255650-149255651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560585589	chr4:149255674-149255675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183865426	chr4:149255680-149255681	Weak transcription	n/a	n/a	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
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	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
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Epilepsy	22083797	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149235000-149266800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:149244400-149257600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:149245400-149257200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr4:149249400-149261400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:149249400-149263200	Weak transcription	Right Atrium	heart
6	chr4:149249400-149271200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:149251800-149265000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:149252000-149267000	Weak transcription	Right Ventricle	heart
9	chr4:149252200-149257200	Weak transcription	Left Ventricle	heart
10	chr4:149252200-149257600	Weak transcription	Aorta	Aorta
11	chr4:149253800-149255000	Enhancers	Psoas Muscle	Psoas
12	chr4:149254200-149257200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:149254800-149255000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:149255000-149256000	Weak transcription	Psoas Muscle	Psoas
15	chr4:149256000-149256200	Enhancers	Psoas Muscle	Psoas
16	chr4:149257200-149257400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr4:149257200-149257400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:149257200-149257600	Enhancers	Left Ventricle	heart
19	chr4:149257400-149257600	Enhancers	Spleen	Spleen
20	chr4:149257600-149257800	Enhancers	Aorta	Aorta
21	chr4:149257600-149258000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr4:149257600-149263200	Weak transcription	Left Ventricle	heart
23	chr4:149258000-149266800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr4:149259800-149260200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:149261400-149261600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
26	chr4:149261600-149267000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:149262800-149265400	Enhancers	Fetal Heart	heart
28	chr4:149263200-149263400	Enhancers	Gastric	stomach
29	chr4:149263200-149263400	Enhancers	Left Ventricle	heart
30	chr4:149263200-149263600	Enhancers	Ovary	ovary
31	chr4:149263200-149263600	ZNF genes & repeats	Psoas Muscle	Psoas
32	chr4:149263200-149263600	Enhancers	Right Atrium	heart
33	chr4:149263400-149265600	Weak transcription	Left Ventricle	heart
34	chr4:149263400-149267000	Weak transcription	Gastric	stomach
35	chr4:149263600-149267000	Weak transcription	Psoas Muscle	Psoas
36	chr4:149263600-149267000	Weak transcription	Right Atrium	heart
37	chr4:149263600-149267400	Weak transcription	Ovary	ovary
38	chr4:149264400-149264800	Enhancers	Stomach Mucosa	stomach
39	chr4:149264800-149265000	Enhancers	Fetal Stomach	stomach
40	chr4:149264800-149265200	Weak transcription	Stomach Mucosa	stomach
41	chr4:149264800-149266400	Enhancers	Duodenum Mucosa	Duodenum
42	chr4:149265000-149265200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr4:149265000-149265800	Enhancers	Fetal Intestine Large	intestine
44	chr4:149265000-149265800	Enhancers	Fetal Muscle Leg	muscle
45	chr4:149265000-149266200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr4:149265000-149266400	Enhancers	Small Intestine	intestine
47	chr4:149265000-149266600	Enhancers	Fetal Lung	lung
48	chr4:149265000-149267000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr4:149265000-149267600	Enhancers	Stomach Smooth Muscle	stomach
50	chr4:149265200-149265800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links