Variant report

Variant	nsv887701
Chromosome Location	chr7:13955324-13988170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13987872..13991716-chr7:13991871..13996241,5	K562	blood:
2	chr7:13964325..13967217-chr7:14020611..14022495,2	K562	blood:
3	chr7:13980412..13983047-chr7:14027221..14029461,2	K562	blood:
4	chr7:13973434..13976076-chr7:13978028..13980321,2	K562	blood:
5	chr7:13980622..13983188-chr7:14022030..14023536,2	K562	blood:
6	chr7:13987784..13990174-chr7:13991754..13993508,2	K562	blood:
7	chr7:13953124..13955887-chr7:14024617..14027108,2	K562	blood:
8	chr7:13973434..13976076-chr7:13978028..13980321,2	K562	blood:
9	chr7:13980412..13983231-chr7:14027961..14030275,2	K562	blood:
10	chr7:13972971..13975876-chr7:14017215..14019067,2	K562	blood:
11	chr7:13985844..13987492-chr7:14019235..14021498,3	K562	blood:
12	chr7:13961833..13964592-chr7:14031302..14033936,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000006468	chromatin interactions

Extended variants
information (count: 1537 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1537 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3801091	chr7:13955324-13955325	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1557946	chr7:13955326-13955327	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569216213	chr7:13955358-13955359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77569081	chr7:13955368-13955369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141140991	chr7:13955369-13955370	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs75571404	chr7:13955383-13955384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs3839720	chr7:13955395-13955396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs73068169	chr7:13955405-13955406	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533763635	chr7:13955460-13955461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553621750	chr7:13955465-13955466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554095069	chr7:13955489-13955490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs570427388	chr7:13955490-13955491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192935925	chr7:13955494-13955495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs531068441	chr7:13955505-13955506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559301939	chr7:13955564-13955565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111966520	chr7:13955573-13955574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs28703937	chr7:13955583-13955584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs28625853	chr7:13955600-13955601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs28419497	chr7:13955605-13955606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs533446677	chr7:13955608-13955609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576001438	chr7:13955609-13955610	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541900508	chr7:13955637-13955638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555207095	chr7:13955638-13955639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs575066351	chr7:13955640-13955641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540853080	chr7:13955641-13955642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs3801093	chr7:13955642-13955643	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188656664	chr7:13955662-13955663	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs375093256	chr7:13955692-13955693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545835114	chr7:13955718-13955719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181190727	chr7:13955735-13955736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372733859	chr7:13955738-13955739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185242076	chr7:13955777-13955778	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs138791458	chr7:13955778-13955779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs141962646	chr7:13955779-13955780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527449349	chr7:13955820-13955821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547198074	chr7:13955822-13955823	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371603246	chr7:13955863-13955864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570367230	chr7:13955889-13955890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539716644	chr7:13955898-13955899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549848335	chr7:13955919-13955920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569618688	chr7:13955976-13955977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117599828	chr7:13955989-13955990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367559230	chr7:13956013-13956014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555475658	chr7:13956032-13956033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572189964	chr7:13956038-13956039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576419092	chr7:13956073-13956074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371398313	chr7:13956079-13956080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534351519	chr7:13956080-13956081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375765238	chr7:13956100-13956101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370019388	chr7:13956113-13956114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	21298110	CNVD
Glioblastoma multiforme	22122801	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Prostate cancer	17079440	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	19805367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13930800-13971000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:13933800-13983600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:13934200-13968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:13934800-13959800	Weak transcription	Pancreas	Pancrea
5	chr7:13944400-13958600	Weak transcription	NHLF	lung
6	chr7:13945600-13974400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:13946200-13958600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:13946200-13959800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:13946200-13969200	Weak transcription	Liver	Liver
10	chr7:13949000-13958600	Weak transcription	NH-A	brain
11	chr7:13949000-13959400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:13949000-13969000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:13949200-13958600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:13949200-13958600	Weak transcription	Osteobl	bone
15	chr7:13949200-13959600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:13949200-13969000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:13949200-13969200	Weak transcription	Left Ventricle	heart
18	chr7:13949400-13958600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:13949400-13958600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:13949400-13962200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:13949600-13956200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:13949600-13959000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:13949600-13959800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:13949600-13959800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:13951000-13957600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:13951200-13959800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:13951800-13959600	Weak transcription	Aorta	Aorta
28	chr7:13951800-13959800	Weak transcription	Fetal Stomach	stomach
29	chr7:13952000-13958600	Weak transcription	HSMM	muscle
30	chr7:13953000-13956000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:13953000-13958600	Weak transcription	NHDF-Ad	bronchial
32	chr7:13953000-13958800	Weak transcription	Fetal Kidney	kidney
33	chr7:13953000-13959600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:13953000-13959600	Weak transcription	Fetal Heart	heart
35	chr7:13953000-13959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:13953000-13959800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:13953200-13958600	Weak transcription	Fetal Lung	lung
38	chr7:13955000-13959400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:13955000-13959800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:13956000-13957400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:13956200-13957400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:13957400-13959400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:13957400-13960200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:13957600-13957800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:13957800-13958000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:13958000-13958800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:13958600-13958800	Enhancers	HMEC	breast
48	chr7:13958600-13959000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:13958600-13959200	Enhancers	HUVEC	blood vessel
50	chr7:13958600-13959200	Enhancers	NHLF	lung

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