Variant report

Variant	nsv960732
Chromosome Location	chr18:296371-314489
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	BHLHE40	chr18:302234-302299	K562	blood:	n/a	n/a
2	CCNT2	chr18:306762-306890	K562	blood:	n/a	n/a
3	CEBPD	chr18:306669-307002	K562	blood:	n/a	n/a
4	CHD2	chr18:308135-308422	K562	blood:	n/a	n/a
5	CTCF	chr18:305288-305347	MCF-7	breast:	n/a	n/a
6	CTCF	chr18:305340-305490	HAc	cerebellar:	n/a	n/a
7	CTCF	chr18:312680-312830	HAc	cerebellar:	n/a	n/a
8	CTCF	chr18:305397-305408	MCF-7	breast:	n/a	n/a
9	CTCF	chr18:305286-305350	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr18:305264-305423	MCF-7	breast:	n/a	n/a
11	CTCF	chr18:305240-305390	AG10803	skin:	n/a	n/a
12	CTCF	chr18:305180-305330	HEK293	kidney:	n/a	n/a
13	CTCF	chr18:305281-305368	Gliobla	brain:	n/a	n/a
14	CTCF	chr18:296340-296490	AG09319	gingival:	n/a	n/a
15	CTCF	chr18:305438-305477	MCF-7	breast:	n/a	n/a
16	CTCF	chr18:302180-302330	K562	blood:	n/a	n/a
17	CTCF	chr18:305220-305370	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr18:305220-305370	AG10803	skin:	n/a	n/a
19	CTCF	chr18:305200-305350	MCF-7	breast:	n/a	n/a
20	CTCF	chr18:305240-305390	MCF-7	breast:	n/a	n/a
21	CTCF	chr18:305180-305330	AG09309	skin:	n/a	n/a
22	EP300	chr18:306660-306923	K562	blood:	n/a	n/a
23	GATA1	chr18:305972-307226	K562	blood:	n/a	chr18:307173-307183 chr18:307157-307164
24	GATA2	chr18:306628-306993	K562	blood:	n/a	n/a
25	GATA2	chr18:306728-306927	SH-SY5Y	brain:	n/a	n/a
26	JUND	chr18:306717-306883	K562	blood:	n/a	n/a
27	MAFF	chr18:310080-310424	HepG2	liver:	n/a	chr18:310236-310250 chr18:310230-310248
28	MAFF	chr18:298012-298286	K562	blood:	n/a	n/a
29	MAFF	chr18:310121-310390	K562	blood:	n/a	chr18:310236-310250 chr18:310230-310248
30	MAFK	chr18:310113-310383	K562	blood:	n/a	chr18:310236-310250 chr18:310232-310243 chr18:310231-310245 chr18:310233-310244 chr18:310232-310247 chr18:310233-310253 chr18:310235-310251 chr18:310232-310248 chr18:310232-310243
31	MAFK	chr18:310170-310398	H1-hESC	embryonic stem cell:	n/a	chr18:310236-310250 chr18:310232-310243 chr18:310231-310245 chr18:310233-310244 chr18:310232-310247 chr18:310233-310253 chr18:310235-310251 chr18:310232-310248 chr18:310232-310243
32	MAFK	chr18:298030-298263	K562	blood:	n/a	n/a
33	MAFK	chr18:310064-310415	IMR90	lung:	n/a	chr18:310236-310250 chr18:310232-310243 chr18:310231-310245 chr18:310233-310244 chr18:310232-310247 chr18:310233-310253 chr18:310235-310251 chr18:310232-310248 chr18:310232-310243
34	MAFK	chr18:310227-310260	Hela-S3	cervix:	n/a	chr18:310236-310250 chr18:310232-310243 chr18:310231-310245 chr18:310233-310244 chr18:310232-310247 chr18:310233-310253 chr18:310235-310251 chr18:310232-310248 chr18:310232-310243
35	MAFK	chr18:310069-310393	HepG2	liver:	n/a	chr18:310236-310250 chr18:310232-310243 chr18:310231-310245 chr18:310233-310244 chr18:310232-310247 chr18:310233-310253 chr18:310235-310251 chr18:310232-310248 chr18:310232-310243
36	MAFK	chr18:310060-310423	HepG2	liver:	n/a	chr18:310236-310250 chr18:310232-310243 chr18:310231-310245 chr18:310233-310244 chr18:310232-310247 chr18:310233-310253 chr18:310235-310251 chr18:310232-310248 chr18:310232-310243
37	MYC	chr18:306863-306897	K562	blood:	n/a	n/a
38	MYC	chr18:305445-305453	MCF-7	breast:	n/a	n/a
39	POLR2A	chr18:306664-306898	K562	blood:	n/a	n/a
40	POLR2A	chr18:306648-306950	H1-neurons	neurons:	n/a	n/a
41	RAD21	chr18:312525-312743	H1-hESC	embryonic stem cell:	n/a	n/a
42	RCOR1	chr18:306684-306951	K562	blood:	n/a	n/a
43	REST	chr18:306244-307314	H1-neurons	neurons:	n/a	n/a
44	SIN3A	chr18:305077-305421	H1-hESC	embryonic stem cell:	n/a	n/a
45	TAL1	chr18:306648-306969	K562	blood:	n/a	n/a
46	TBL1XR1	chr18:306702-306953	K562	blood:	n/a	n/a
47	TEAD4	chr18:306525-307045	K562	blood:	n/a	n/a
48	TEAD4	chr18:306578-306915	K562	blood:	n/a	n/a
49	USF1	chr18:302143-302386	K562	blood:	n/a	n/a
50	ZNF143	chr18:312535-312689	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:294145..296995-chr18:298267..301076,2	K562	blood:
2	chr18:295698..298491-chr18:306221..309182,2	MCF-7	breast:
3	chr18:294145..296995-chr18:298267..301076,2	K562	blood:
4	chr18:269653..272578-chr18:297355..299675,2	K562	blood:
5	chr18:292073..293974-chr18:294604..297450,2	K562	blood:
6	chr18:300482..306131-chr18:306212..309352,5	K562	blood:
7	chr18:248724..251192-chr18:298155..299664,2	K562	blood:
8	chr18:300482..306131-chr18:306212..309352,5	K562	blood:
9	chr18:302419..306527-chr18:308522..311824,4	K562	blood:
10	chr18:305775..308691-chr18:309654..313982,3	K562	blood:
11	chr18:302419..306527-chr18:308522..311824,4	K562	blood:
12	chr18:295698..298491-chr18:306221..309182,2	MCF-7	breast:
13	chr18:305775..308691-chr18:309654..313982,3	K562	blood:

Variant related genes	Relation type
ENSG00000264514	TF binding region

Extended variants
information (count: 776 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:776 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546186962	chr18:296397-296398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376193482	chr18:296431-296432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550498079	chr18:296436-296437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569072751	chr18:296492-296493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116444586	chr18:296514-296515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201630840	chr18:296528-296529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191365477	chr18:296545-296546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115153072	chr18:296589-296590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144107593	chr18:296598-296599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79166393	chr18:296599-296600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531502621	chr18:296676-296677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72857536	chr18:296692-296693	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576863428	chr18:296704-296705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376308139	chr18:296710-296711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183234727	chr18:296718-296719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557259728	chr18:296771-296772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540947771	chr18:296799-296800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187825009	chr18:296803-296804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191047643	chr18:296812-296813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117065867	chr18:296818-296819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528452491	chr18:296879-296880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147316756	chr18:296897-296898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182458421	chr18:296935-296936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375687445	chr18:296946-296947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111932586	chr18:296949-296950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551087482	chr18:296974-296975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117447154	chr18:296989-296990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529854872	chr18:296990-296991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187958253	chr18:297006-297007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140740459	chr18:297007-297008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533882483	chr18:297016-297017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559068710	chr18:297088-297089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535477710	chr18:297134-297135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558122055	chr18:297170-297171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144601612	chr18:297266-297267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151284644	chr18:297345-297346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192479381	chr18:297349-297350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200100230	chr18:297387-297388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543250961	chr18:297390-297391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555253126	chr18:297397-297398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184649860	chr18:297407-297408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540967398	chr18:297505-297506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565118871	chr18:297586-297587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528102642	chr18:297596-297597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4121515	chr18:297609-297610	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs115286483	chr18:297616-297617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139304023	chr18:297678-297679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370456836	chr18:297684-297685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527568410	chr18:297686-297687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552475295	chr18:297693-297694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:295000-296600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr18:295200-297000	Enhancers	NHDF-Ad	bronchial
3	chr18:295400-296600	Enhancers	Osteobl	bone
4	chr18:295400-297000	Enhancers	HUVEC	blood vessel
5	chr18:296000-296600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr18:296000-296600	Enhancers	Fetal Muscle Leg	muscle
7	chr18:296000-296600	Enhancers	Fetal Stomach	stomach
8	chr18:296600-297600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr18:297000-297800	Weak transcription	NHDF-Ad	bronchial
10	chr18:297000-301400	Weak transcription	HUVEC	blood vessel
11	chr18:297600-298600	Enhancers	K562	blood
12	chr18:297600-299000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr18:297800-298200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr18:297800-298200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr18:297800-298600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr18:297800-298600	Enhancers	NHDF-Ad	bronchial
17	chr18:298600-302200	Weak transcription	K562	blood
18	chr18:298600-304800	Weak transcription	NHDF-Ad	bronchial
19	chr18:300800-301800	Enhancers	Fetal Lung	lung
20	chr18:301000-301400	Enhancers	Fetal Kidney	kidney
21	chr18:301400-302400	Enhancers	HUVEC	blood vessel
22	chr18:301800-303400	Weak transcription	Fetal Lung	lung
23	chr18:302000-302400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr18:302200-302400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr18:302200-302400	Enhancers	K562	blood
26	chr18:302200-302600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr18:302400-303400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr18:302400-303800	Weak transcription	K562	blood
29	chr18:303200-305800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:303400-304600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr18:303400-305600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr18:303400-305600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr18:303400-305600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr18:303400-305600	Enhancers	Fetal Lung	lung
35	chr18:303400-307200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr18:303400-307800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr18:303400-308200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr18:303600-305800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr18:303800-305400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr18:303800-305600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr18:303800-306600	Enhancers	K562	blood
42	chr18:304200-305600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr18:304200-305600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr18:304600-305400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr18:304600-305400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr18:304600-306600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr18:304800-305400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr18:304800-305400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr18:304800-305400	Enhancers	NHDF-Ad	bronchial
50	chr18:304800-305600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links