Variant report

Variant	nsv888035
Chromosome Location	chr7:53157899-53232207
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:19158805..19159401-chr7:53162782..53163559,2	MCF-7	breast:
2	chr7:53213709..53216589-chr7:53219355..53221202,2	MCF-7	breast:
3	chr17:25277426..25278160-chr7:53200570..53201453,2	MCF-7	breast:
4	chr7:53154314..53155979-chr7:53166345..53169184,2	MCF-7	breast:
5	chr7:53155919..53158080-chr7:53165573..53167776,2	MCF-7	breast:
6	chr7:53157602..53160581-chr7:53161420..53163766,2	K562	blood:
7	chr7:53213709..53216589-chr7:53219355..53221202,2	MCF-7	breast:
8	chr7:53155919..53158080-chr7:53165573..53167776,2	MCF-7	breast:
9	chr7:53157602..53160581-chr7:53161420..53163766,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260924	chromatin interactions

Extended variants
information (count: 1040 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:1040 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187618715	chr7:53162016-53162017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7790921	chr7:53162030-53162031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs534272129	chr7:53162049-53162050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555596927	chr7:53162101-53162102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576501938	chr7:53162142-53162143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191231453	chr7:53162165-53162166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371927680	chr7:53162194-53162195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567783086	chr7:53162195-53162196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17135558	chr7:53162210-53162211	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs79244160	chr7:53162268-53162269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56910958	chr7:53162346-53162347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs373011703	chr7:53162359-53162360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565882042	chr7:53162400-53162401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537830392	chr7:53162405-53162406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530321332	chr7:53162407-53162408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182978910	chr7:53162422-53162423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570182330	chr7:53162430-53162431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539170284	chr7:53162468-53162469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187316769	chr7:53162549-53162550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566126343	chr7:53162573-53162574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534700286	chr7:53162574-53162575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17668402	chr7:53162595-53162596	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192091246	chr7:53162599-53162600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570510542	chr7:53162624-53162625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138582977	chr7:53162633-53162634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576609021	chr7:53162638-53162639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13247508	chr7:53162640-53162641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs141689267	chr7:53162697-53162698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112828071	chr7:53162722-53162723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572808233	chr7:53162753-53162754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577509153	chr7:53162760-53162761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561650017	chr7:53162800-53162801	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530299270	chr7:53162816-53162817	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs138065951	chr7:53162828-53162829	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs115245707	chr7:53162844-53162845	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532751953	chr7:53162845-53162846	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552746259	chr7:53162849-53162850	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184638393	chr7:53162880-53162881	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs187782847	chr7:53162891-53162892	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544914372	chr7:53162904-53162905	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs76810923	chr7:53162919-53162920	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192567487	chr7:53162958-53162959	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534825934	chr7:53162970-53162971	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553505614	chr7:53163007-53163008	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs77809706	chr7:53163078-53163079	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10447913	chr7:53163080-53163081	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs114843864	chr7:53163090-53163091	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377359700	chr7:53163098-53163099	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553275272	chr7:53163112-53163113	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569892884	chr7:53163158-53163159	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:123)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53162000-53162800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:53162400-53164800	Enhancers	HUVEC	blood vessel
3	chr7:53162600-53162800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:53164000-53164400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:53164800-53167200	Weak transcription	HUVEC	blood vessel
6	chr7:53165400-53166000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:53166000-53167000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:53167000-53167400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:53167200-53168600	Enhancers	HUVEC	blood vessel
10	chr7:53178000-53179200	Enhancers	Fetal Muscle Leg	muscle
11	chr7:53178000-53180000	Enhancers	Fetal Heart	heart
12	chr7:53178200-53178400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:53178200-53179000	Enhancers	NH-A	brain
14	chr7:53178400-53185800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:53178600-53179000	Enhancers	Fetal Stomach	stomach
16	chr7:53178600-53179200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:53178600-53179400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:53178600-53179600	Enhancers	Aorta	Aorta
19	chr7:53178800-53179600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:53179000-53179600	Enhancers	Ovary	ovary
21	chr7:53179200-53182400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:53179400-53181800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:53179800-53180000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:53180000-53180400	Weak transcription	Fetal Heart	heart
25	chr7:53180200-53181600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:53180400-53182400	Enhancers	Fetal Heart	heart
27	chr7:53180400-53182600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:53181600-53182800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:53181800-53182600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:53181800-53183800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:53182000-53183200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr7:53182000-53183400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:53182200-53182600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr7:53182200-53182600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:53182400-53182600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr7:53182400-53182800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr7:53182400-53183000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr7:53182400-53185000	Weak transcription	Fetal Heart	heart
39	chr7:53182600-53183000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr7:53182600-53183400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:53183000-53183400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr7:53185000-53185600	Enhancers	Fetal Heart	heart
43	chr7:53185600-53189200	Weak transcription	Fetal Heart	heart
44	chr7:53185600-53189400	Enhancers	HUVEC	blood vessel
45	chr7:53185800-53188400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:53186600-53188200	Enhancers	NH-A	brain
47	chr7:53187000-53187200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:53187200-53187800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:53187200-53187800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:53187400-53187800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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