Variant report

Variant	nsv464374
Chromosome Location	chr7:12414725-12430615
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12414352..12417133-chr7:12443944..12445537,2	K562	blood:
2	chr7:12426277..12428963-chr7:12530535..12533181,2	K562	blood:
3	chr7:12423183..12428504-chr7:12441656..12445145,7	K562	blood:
4	chr4:173623488..173624406-chr7:12420850..12421512,2	MCF-7	breast:
5	chr7:12408674..12410212-chr7:12426957..12428907,2	K562	blood:
6	chr7:12401893..12405448-chr7:12416442..12419735,3	K562	blood:
7	chr7:12391914..12394742-chr7:12414391..12416688,2	K562	blood:
8	chr7:12408799..12410708-chr7:12417249..12418833,2	K562	blood:
9	chr7:12428677..12429434-chr7:12476625..12477415,2	K562	blood:
10	chr7:12421246..12422799-chr7:12438154..12440817,2	K562	blood:
11	chr7:12422294..12424938-chr7:12449157..12451879,2	K562	blood:
12	chr7:12428351..12429175-chr7:12529458..12530800,4	MCF-7	breast:
13	chr7:12408712..12411098-chr7:12427407..12429029,2	K562	blood:
14	chr7:12398772..12400728-chr7:12416119..12417972,2	K562	blood:
15	chr7:12401550..12404872-chr7:12410854..12415444,4	K562	blood:
16	chr7:12354059..12356452-chr7:12416852..12418898,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146530	chromatin interactions
ENSG00000203523	chromatin interactions

Extended variants
information (count: 663 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17165936	chr7:12414725-12414726	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576856453	chr7:12414736-12414737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368506527	chr7:12414823-12414824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73300539	chr7:12414826-12414827	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs527854376	chr7:12414869-12414870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35927672	chr7:12414876-12414877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6460940	chr7:12414993-12414994	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs564634139	chr7:12415016-12415017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533254508	chr7:12415026-12415027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569825032	chr7:12415062-12415063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116550633	chr7:12415073-12415074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560749503	chr7:12415167-12415168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376786606	chr7:12415200-12415201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369080291	chr7:12415211-12415212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189889574	chr7:12415220-12415221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370034287	chr7:12415244-12415245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548981881	chr7:12415276-12415277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531509812	chr7:12415297-12415298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566095202	chr7:12415325-12415326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7802736	chr7:12415349-12415350	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs558273969	chr7:12415381-12415382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568183601	chr7:12415441-12415442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112139862	chr7:12415452-12415453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553669019	chr7:12415490-12415491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189180558	chr7:12415549-12415550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539538142	chr7:12415559-12415560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73300543	chr7:12415562-12415563	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576066859	chr7:12415571-12415572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542556167	chr7:12415632-12415633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556001103	chr7:12415635-12415636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75557035	chr7:12415675-12415676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541646265	chr7:12415694-12415695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564519597	chr7:12415696-12415697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149006380	chr7:12415753-12415754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111240136	chr7:12415756-12415757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201119483	chr7:12415769-12415770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193049017	chr7:12415793-12415794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115516808	chr7:12415855-12415856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183742987	chr7:12415859-12415860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563354495	chr7:12415879-12415880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111761262	chr7:12415916-12415917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17165942	chr7:12415923-12415924	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs66889572	chr7:12415945-12415946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs398094833	chr7:12415947-12415948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574777444	chr7:12415960-12415961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187386883	chr7:12415981-12415982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568376221	chr7:12415997-12415998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368797681	chr7:12416005-12416006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537417881	chr7:12416009-12416010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79922635	chr7:12416061-12416062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12368200-12433200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:12381800-12429000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:12385600-12418000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:12390000-12420600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:12397200-12418000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:12403200-12418000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:12403200-12422200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:12406400-12418200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:12407200-12420600	Strong transcription	K562	blood
10	chr7:12410200-12417600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:12410200-12418000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:12410400-12417600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:12410400-12418000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:12410400-12418000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:12410800-12417800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:12412600-12420600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:12413200-12415800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:12413200-12418200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:12413400-12417800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:12414600-12420200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:12415800-12420400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:12417600-12419200	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr7:12417600-12419200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:12417800-12418600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:12417800-12420400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:12418000-12418600	Enhancers	HepG2	liver
27	chr7:12418000-12418800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:12418000-12418800	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr7:12418000-12418800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:12418000-12420400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr7:12418000-12420400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:12418000-12420400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:12418200-12418400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:12418200-12419200	Strong transcription	Primary hematopoietic stem cells	blood
35	chr7:12418400-12420200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:12418600-12423200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:12418800-12422200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:12418800-12428600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:12418800-12428600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr7:12419200-12422800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:12419200-12423400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:12419200-12432800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:12420200-12420400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:12420200-12422600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:12420400-12423200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:12420400-12423800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:12420400-12424000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:12420400-12428200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:12420400-12437600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr7:12420600-12422000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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