Variant report

Variant	nsv965610
Chromosome Location	chr5:127122488-127132347
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	chr5:127130905-127131105	K562	blood:	n/a	chr5:127130932-127130943
2	CEBPB	chr5:127130797-127130972	HepG2	liver:	n/a	chr5:127130932-127130943
3	CEBPB	chr5:127130852-127131073	H1-hESC	embryonic stem cell:	n/a	chr5:127130932-127130943
4	CTCF	chr5:127122624-127122667	Fibrobl	skin:	n/a	n/a
5	CTCF	chr5:127131560-127131710	SAEC	small airway:	n/a	n/a
6	MAFK	chr5:127123967-127124142	HepG2	liver:	n/a	n/a
7	MAX	chr5:127131688-127131749	NB4	blood:	n/a	n/a
8	MAX	chr5:127122691-127122697	GM12878	blood:	n/a	n/a
9	MYC	chr5:127122991-127123045	MCF-7	breast:	n/a	n/a
10	MYC	chr5:127122960-127123054	MCF-7	breast:	n/a	n/a
11	POLR2A	chr5:127122987-127123067	A549	lung:	n/a	n/a
12	POLR2A	chr5:127122940-127123075	Gliobla	brain:	n/a	n/a
13	POLR2A	chr5:127131537-127131617	ProgFib	skin:	n/a	n/a
14	POLR2A	chr5:127122947-127123085	MCF-7	breast:	n/a	n/a
15	POLR2A	chr5:127122914-127123071	MCF-7	breast:	n/a	n/a
16	SETDB1	chr5:127127104-127127494	U2OS	brain:	n/a	n/a
17	STAT3	chr5:127124278-127124421	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr5:127127321-127127391	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:42383301..42383904-chr5:127131182..127132067,2	MCF-7	breast:
2	chr5:127130582..127132988-chr5:127136940..127138622,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251032	TF binding region

Extended variants
information (count: 343 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11241942	chr5:127122492-127122493	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141460799	chr5:127122508-127122509	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs568874605	chr5:127122518-127122519	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs538244098	chr5:127122547-127122548	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs150832514	chr5:127122577-127122578	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs575059711	chr5:127122599-127122600	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs374642665	chr5:127122607-127122608	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs115818189	chr5:127122621-127122622	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs554401829	chr5:127122665-127122666	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs139251419	chr5:127122679-127122680	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs191389002	chr5:127122686-127122687	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs185491303	chr5:127122720-127122721	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs564975699	chr5:127122734-127122735	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs546067526	chr5:127122735-127122736	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs188948239	chr5:127122739-127122740	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs144170586	chr5:127122762-127122763	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs369505195	chr5:127122871-127122872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560757408	chr5:127122893-127122894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193101547	chr5:127122902-127122903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559421348	chr5:127122904-127122905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572776096	chr5:127122907-127122908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80149770	chr5:127122912-127122913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113744126	chr5:127122930-127122931	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs559908631	chr5:127122969-127122970	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs532187002	chr5:127122973-127122974	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs552208661	chr5:127122984-127122985	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs569035122	chr5:127123036-127123037	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs531744468	chr5:127123061-127123062	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs185121744	chr5:127123071-127123072	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs568406898	chr5:127123096-127123097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534495361	chr5:127123104-127123105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554513959	chr5:127123110-127123111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571009688	chr5:127123131-127123132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111329554	chr5:127123155-127123156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558650917	chr5:127123161-127123162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181278843	chr5:127123214-127123215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73345063	chr5:127123215-127123216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112195653	chr5:127123218-127123219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554548207	chr5:127123263-127123264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113280117	chr5:127123309-127123310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576393805	chr5:127123317-127123318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545713108	chr5:127123319-127123320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184283115	chr5:127123370-127123371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550716548	chr5:127123383-127123384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540097497	chr5:127123387-127123388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202152599	chr5:127123413-127123414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560021704	chr5:127123427-127123428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200552964	chr5:127123428-127123429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545574431	chr5:127123430-127123431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377464555	chr5:127123467-127123468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127120000-127123000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:127120600-127122600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:127120800-127122800	Bivalent Enhancer	NH-A	brain
4	chr5:127121400-127122800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:127121400-127125400	Weak transcription	Stomach Mucosa	stomach
6	chr5:127122000-127124200	Weak transcription	NHDF-Ad	bronchial
7	chr5:127122400-127123000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:127122600-127122800	Enhancers	Left Ventricle	heart
9	chr5:127125200-127125800	ZNF genes & repeats	Aorta	Aorta
10	chr5:127125400-127125800	Enhancers	Stomach Mucosa	stomach
11	chr5:127125800-127131200	Weak transcription	Stomach Mucosa	stomach
12	chr5:127127000-127128200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:127128200-127137400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:127129800-127130000	Enhancers	Gastric	stomach
15	chr5:127130000-127136600	Weak transcription	Gastric	stomach
16	chr5:127130800-127131600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:127131200-127131800	Enhancers	Stomach Mucosa	stomach
18	chr5:127131200-127132400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:127131200-127133000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:127131400-127132400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:127131400-127132400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:127131400-127133000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:127131400-127133000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:127131600-127131800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:127131600-127132200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:127131600-127132400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:127131600-127132400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr5:127131800-127132000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:127131800-127132400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:127131800-127136600	Weak transcription	Stomach Mucosa	stomach
31	chr5:127132200-127135200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links