Variant report

Variant	nsv970582
Chromosome Location	chr7:137405378-137409949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr7:137406453-137406468	GM12878	blood:	n/a	n/a
2	CTCF	chr7:137407172-137407253	LNCaP	prostate:	n/a	n/a
3	CTCF	chr7:137407248-137407305	Lung_OC	lung:	n/a	n/a
4	CTCF	chr7:137407218-137407294	GM10266	blood:	n/a	n/a
5	CTCF	chr7:137407215-137407281	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr7:137407263-137407268	LNCaP	prostate:	n/a	n/a
7	CTCF	chr7:137407144-137407175	GM20000	blood:	n/a	n/a
8	EBF1	chr7:137407022-137407244	GM12878	blood:	n/a	n/a
9	HEY1	chr7:137406713-137406931	K562	blood:	n/a	n/a
10	HEY1	chr7:137407048-137407295	K562	blood:	n/a	n/a
11	IRF4	chr7:137407193-137407510	GM12878	blood:	n/a	n/a
12	PAX5	chr7:137407012-137407541	GM12878	blood:	n/a	n/a
13	PAX5	chr7:137407125-137407400	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:137407051-137407487	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:137407073-137407263	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr7:137406814-137407319	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:137406634-137407400	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr7:137409934-137409943	ProgFib	skin:	n/a	n/a
19	POLR2A	chr7:137406842-137407495	Hela-S3	cervix:	n/a	n/a
20	POU2F2	chr7:137406956-137407409	GM12878	blood:	n/a	n/a
21	SPI1	chr7:137407138-137407317	GM12878	blood:	n/a	n/a
22	SPI1	chr7:137406740-137406969	K562	blood:	n/a	n/a
23	ZBTB33	chr7:137406701-137407586	K562	blood:	n/a	n/a
24	ZBTB33	chr7:137406986-137407430	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137404992..137406849-chr7:137408225..137411638,3	K562	blood:
2	chr7:137404303..137406849-chr7:137408072..137410227,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230383	TF binding region
ENSG00000230383	chromatin interactions

Extended variants
information (count: 202 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:202 , 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	rs33916081	chr7:137405383-137405384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527461090	chr7:137405384-137405385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186755135	chr7:137405412-137405413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567173331	chr7:137405491-137405492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536148417	chr7:137405516-137405517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191444683	chr7:137405523-137405524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556076863	chr7:137405537-137405538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548216191	chr7:137405579-137405580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182818247	chr7:137405589-137405590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13234743	chr7:137405605-137405606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs78208396	chr7:137405623-137405624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73460689	chr7:137405634-137405635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs113696067	chr7:137405640-137405641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540444635	chr7:137405717-137405718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374412162	chr7:137405757-137405758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574344240	chr7:137405776-137405777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531789307	chr7:137405811-137405812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543335025	chr7:137405826-137405827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117149549	chr7:137405874-137405875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187940630	chr7:137405896-137405897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191318963	chr7:137405998-137405999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565205018	chr7:137406005-137406006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527785819	chr7:137406016-137406017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547146908	chr7:137406086-137406087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182190712	chr7:137406112-137406113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529883085	chr7:137406135-137406136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115999941	chr7:137406228-137406229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569969493	chr7:137406271-137406272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538225446	chr7:137406306-137406307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552174446	chr7:137406337-137406338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565593116	chr7:137406394-137406395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188035740	chr7:137406409-137406410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542341279	chr7:137406504-137406505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116372890	chr7:137406517-137406518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574282637	chr7:137406533-137406534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115561573	chr7:137406535-137406536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375619176	chr7:137406539-137406540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192493647	chr7:137406665-137406666	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs146610394	chr7:137406676-137406677	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs545027429	chr7:137406692-137406693	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs565288971	chr7:137406705-137406706	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs572386461	chr7:137406707-137406708	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs73728811	chr7:137406731-137406732	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs561075929	chr7:137406737-137406738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79261924	chr7:137406738-137406739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57957290	chr7:137406740-137406741	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs77130065	chr7:137406757-137406758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547340259	chr7:137406759-137406760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563409877	chr7:137406763-137406764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185293693	chr7:137406772-137406773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137400800-137405400	Weak transcription	Right Atrium	heart
2	chr7:137403200-137416200	Weak transcription	HSMMtube	muscle
3	chr7:137403400-137407800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:137403400-137412200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:137403400-137413000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:137403400-137413200	Weak transcription	Aorta	Aorta
7	chr7:137403400-137416000	Weak transcription	HSMM	muscle
8	chr7:137403600-137407800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:137403600-137408000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:137403800-137409800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:137403800-137415800	Weak transcription	Osteobl	bone
12	chr7:137404000-137406400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:137404000-137409800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:137404800-137405800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:137404800-137409800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:137404800-137409800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:137405800-137406000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:137406000-137406200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:137406400-137409600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:137407800-137408200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:137407800-137409600	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr7:137408200-137415800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:137409600-137413000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:137409600-137414200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:137409800-137410200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:137409800-137411000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:137409800-137411000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:137409800-137411200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:137409800-137411200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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