Variant report

Variant	nsv887707
Chromosome Location	chr7:14471682-14576163
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:14466276..14469939-chr7:14469961..14472647,3	K562	blood:
2	chr7:14531022..14533829-chr7:14539304..14542023,2	K562	blood:
3	chr7:14503536..14506450-chr7:14511181..14513157,3	K562	blood:
4	chr7:13564462..13565362-chr7:14497193..14498173,5	MCF-7	breast:
5	chr7:14503536..14506450-chr7:14511181..14513157,3	K562	blood:
6	chr7:13934057..13934906-chr7:14497131..14498025,4	MCF-7	breast:
7	chr7:14531022..14533829-chr7:14539304..14542023,2	K562	blood:
8	chr16:25087283..25088036-chr7:14482140..14482806,2	MCF-7	breast:
9	chr7:14487713..14488501-chrX:20040447..20041022,2	MCF-7	breast:
10	chr7:13934709..13935267-chr7:14497324..14498029,2	MCF-7	breast:
11	chr7:14028848..14029461-chr7:14497211..14497977,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000006468	chromatin interactions

Extended variants
information (count: 2417 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2417 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17777652	chr7:14471682-14471683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558511565	chr7:14471737-14471738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578239592	chr7:14471740-14471741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2163509	chr7:14471750-14471751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563695897	chr7:14471794-14471795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529408138	chr7:14471816-14471817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543089802	chr7:14471878-14471879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368818548	chr7:14471919-14471920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529653664	chr7:14471934-14471935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559310834	chr7:14471938-14471939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73280317	chr7:14471952-14471953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs196755	chr7:14471998-14471999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188469104	chr7:14472033-14472034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192892519	chr7:14472037-14472038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550353229	chr7:14472048-14472049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371482098	chr7:14472049-14472050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567245935	chr7:14472070-14472071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141995048	chr7:14472112-14472113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553012376	chr7:14472134-14472135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566544788	chr7:14472136-14472137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375625571	chr7:14472146-14472147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535249220	chr7:14472166-14472167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558335581	chr7:14472178-14472179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578261626	chr7:14472183-14472184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13244039	chr7:14472218-14472219	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573238877	chr7:14472219-14472220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368191887	chr7:14472260-14472261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557110488	chr7:14472271-14472272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185440985	chr7:14472272-14472273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573953749	chr7:14472286-14472287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145700859	chr7:14472314-14472315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185446824	chr7:14472326-14472327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138266276	chr7:14472392-14472393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544808945	chr7:14472399-14472400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372117821	chr7:14472429-14472430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114247714	chr7:14472437-14472438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530757623	chr7:14472438-14472439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74993656	chr7:14472460-14472461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377684955	chr7:14472507-14472508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370668005	chr7:14472606-14472607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567178821	chr7:14472618-14472619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117725254	chr7:14472622-14472623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73280320	chr7:14472691-14472692	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs60294470	chr7:14472749-14472750	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs537560281	chr7:14472767-14472768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117600635	chr7:14472772-14472773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116761210	chr7:14472777-14472778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537370040	chr7:14472780-14472781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573956898	chr7:14472808-14472809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12540892	chr7:14472844-14472845	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:82)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14470600-14473200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:14471000-14471800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:14471000-14471800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:14471000-14472200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:14471000-14472400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:14471000-14472400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:14471800-14472000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:14471800-14473200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:14472200-14472400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:14472400-14473000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:14472400-14473000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:14472400-14473000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:14472600-14473000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:14472600-14473000	Enhancers	Fetal Muscle Leg	muscle
15	chr7:14473200-14473400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:14473200-14479800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:14476000-14476200	Enhancers	Psoas Muscle	Psoas
18	chr7:14477600-14478000	Enhancers	Psoas Muscle	Psoas
19	chr7:14477800-14478400	Enhancers	Fetal Lung	lung
20	chr7:14478400-14478800	Weak transcription	Fetal Lung	lung
21	chr7:14478800-14479200	Enhancers	Fetal Lung	lung
22	chr7:14479800-14480400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:14485600-14486600	Enhancers	Fetal Intestine Small	intestine
24	chr7:14486200-14486800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr7:14486200-14487600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr7:14486400-14486800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:14486400-14486800	Enhancers	Fetal Intestine Large	intestine
28	chr7:14486400-14487600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:14486600-14487000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:14486600-14487200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:14486600-14487400	Enhancers	Primary T cells from cord blood	blood
32	chr7:14487600-14488200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:14496600-14497200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr7:14496600-14497600	Enhancers	Fetal Heart	heart
35	chr7:14497000-14497200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:14497000-14497200	Enhancers	Brain Germinal Matrix	brain
37	chr7:14497000-14497200	Enhancers	Brain Hippocampus Middle	brain
38	chr7:14497200-14497400	Active TSS	NH-A	brain
39	chr7:14497200-14497600	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr7:14497200-14497600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:14497200-14497600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:14497200-14497600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:14497200-14497600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:14497200-14497600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr7:14497200-14497600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:14497200-14497600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:14497200-14497600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:14497200-14497600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr7:14497200-14497600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:14497200-14497600	Enhancers	Adipose Nuclei	Adipose

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