Variant report

Variant	nsv1015581
Chromosome Location	chr7:14123007-14199001
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:14177344..14179951-chr7:14186206..14187901,2	MCF-7	breast:
2	chr7:14167244..14169485-chr7:14169676..14171320,2	K562	blood:
3	chr7:14140015..14142063-chr7:14149644..14151263,2	K562	blood:
4	chr7:14140015..14142063-chr7:14149644..14151263,2	K562	blood:
5	chr7:14188507..14191169-chr7:14194873..14196995,2	MCF-7	breast:
6	chr7:14139084..14141319-chr7:14141372..14143877,3	K562	blood:
7	chr7:14027608..14029274-chr7:14125295..14127086,2	K562	blood:
8	chr7:14177344..14179951-chr7:14186206..14187901,2	MCF-7	breast:
9	chr7:14188507..14191169-chr7:14194873..14196995,2	MCF-7	breast:
10	chr7:14139084..14141319-chr7:14141372..14143877,3	K562	blood:
11	chr7:14137681..14139670-chr7:14144330..14146165,2	K562	blood:
12	chr7:14137681..14139670-chr7:14144330..14146165,2	K562	blood:
13	chr7:14167244..14169485-chr7:14169676..14171320,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000006468	chromatin interactions

Extended variants
information (count: 1498 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1498 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564255463	chr7:14123047-14123048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185288236	chr7:14123059-14123060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543690594	chr7:14123092-14123093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562637451	chr7:14123135-14123136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563428158	chr7:14123146-14123147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139595556	chr7:14123149-14123150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564767329	chr7:14123150-14123151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143477482	chr7:14123179-14123180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550101136	chr7:14123182-14123183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189816972	chr7:14123222-14123223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529339145	chr7:14123234-14123235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2190059	chr7:14123238-14123239	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs17167846	chr7:14123309-14123310	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181495362	chr7:14123328-14123329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534788619	chr7:14123373-14123374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185628283	chr7:14123426-14123427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571480541	chr7:14123468-14123469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139430648	chr7:14123479-14123480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556915656	chr7:14123493-14123494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529277510	chr7:14123511-14123512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144182900	chr7:14123591-14123592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73268004	chr7:14123642-14123643	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553073222	chr7:14123658-14123659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149152370	chr7:14123693-14123694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538691672	chr7:14123723-14123724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541572790	chr7:14123732-14123733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564527584	chr7:14123781-14123782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189992695	chr7:14123834-14123835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543800160	chr7:14123914-14123915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563328012	chr7:14123919-14123920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529278055	chr7:14123927-14123928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548987407	chr7:14123961-14123962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559386750	chr7:14123965-14123966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528589262	chr7:14123966-14123967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142375106	chr7:14123982-14123983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571401584	chr7:14124049-14124050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1029544	chr7:14124065-14124066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs550921158	chr7:14124086-14124087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151297626	chr7:14124117-14124118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115293632	chr7:14124118-14124119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528505619	chr7:14124133-14124134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553011649	chr7:14124150-14124151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572847496	chr7:14124165-14124166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551737786	chr7:14124166-14124167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61100266	chr7:14124177-14124178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558319246	chr7:14124252-14124253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs141786646	chr7:14124258-14124259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs57238832	chr7:14124279-14124280	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs551319919	chr7:14124320-14124321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs371595071	chr7:14124324-14124325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14123000-14124000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:14124000-14124200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:14124200-14125800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:14131800-14132200	Enhancers	Fetal Heart	heart
5	chr7:14134800-14136000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:14136000-14137400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:14137800-14138000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:14144400-14145200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:14144400-14145600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:14144600-14145000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:14144600-14145200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:14144600-14145200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:14144600-14145400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:14144600-14146400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:14144800-14145200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:14145200-14152600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:14145800-14146200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:14156000-14156600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:14156200-14156600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:14162400-14166200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:14162800-14166000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:14163600-14165200	Enhancers	Fetal Brain Male	brain
23	chr7:14164400-14164600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:14164400-14164800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:14164600-14165400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:14164600-14165800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:14165200-14166000	Enhancers	Gastric	stomach
28	chr7:14165400-14166000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:14181800-14185800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:14183600-14184400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:14184000-14184400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:14184000-14184400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:14184000-14184600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr7:14184200-14184400	Enhancers	Brain Germinal Matrix	brain
35	chr7:14184400-14185600	Weak transcription	Brain Germinal Matrix	brain
36	chr7:14185600-14185800	Enhancers	Brain Germinal Matrix	brain
37	chr7:14185800-14186400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:14185800-14186600	Weak transcription	Brain Germinal Matrix	brain
39	chr7:14186400-14188800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:14186600-14187200	Enhancers	Brain Germinal Matrix	brain
41	chr7:14187000-14187600	Enhancers	Fetal Brain Female	brain
42	chr7:14188800-14189000	Enhancers	Brain Germinal Matrix	brain
43	chr7:14188800-14189800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:14189200-14192000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:14190600-14191400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:14191400-14191600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr7:14191400-14193800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr7:14191600-14193000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:14192200-14193600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr7:14192400-14193800	Enhancers	HUES64 Cell Line	embryonic stem cell

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