Variant report

Variant	nsv887634
Chromosome Location	chr7:12385391-12439672
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:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12399201..12400947-chr7:12402626..12404166,2	K562	blood:
2	chr7:12385242..12386819-chr7:12390082..12392750,2	K562	blood:
3	chr7:12408674..12410212-chr7:12426957..12428907,2	K562	blood:
4	chr7:12385242..12386819-chr7:12390082..12392750,2	K562	blood:
5	chr7:12391134..12392692-chr7:12402911..12404517,2	K562	blood:
6	chr7:12363684..12366465-chr7:12393124..12396040,2	K562	blood:
7	chr7:12398772..12400728-chr7:12416119..12417972,2	K562	blood:
8	chr7:12422294..12424938-chr7:12449157..12451879,2	K562	blood:
9	chr4:173623488..173624406-chr7:12420850..12421512,2	MCF-7	breast:
10	chr7:12401893..12405448-chr7:12416442..12419735,3	K562	blood:
11	chr7:12382924..12384916-chr7:12389053..12391966,2	K562	blood:
12	chr7:12250726..12252615-chr7:12403379..12404987,2	MCF-7	breast:
13	chr7:12426277..12428963-chr7:12530535..12533181,2	K562	blood:
14	chr7:12408799..12410708-chr7:12417249..12418833,2	K562	blood:
15	chr7:12380686..12382239-chr7:12385639..12388082,2	K562	blood:
16	chr7:12428677..12429434-chr7:12476625..12477415,2	K562	blood:
17	chr7:12398772..12400728-chr7:12416119..12417972,2	K562	blood:
18	chr7:12390586..12393212-chr7:12394959..12396886,2	K562	blood:
19	chr7:12414352..12417133-chr7:12443944..12445537,2	K562	blood:
20	chr7:12401893..12405448-chr7:12416442..12419735,3	K562	blood:
21	chr7:12408799..12410708-chr7:12417249..12418833,2	K562	blood:
22	chr7:12401550..12404872-chr7:12410854..12415444,4	K562	blood:
23	chr7:12392619..12394669-chr7:12398215..12400869,2	K562	blood:
24	chr7:12390586..12393212-chr7:12394959..12396886,2	K562	blood:
25	chr7:12389607..12392285-chr7:12392419..12394302,2	K562	blood:
26	chr7:12391134..12392692-chr7:12402911..12404517,2	K562	blood:
27	chr7:12354059..12356452-chr7:12416852..12418898,2	K562	blood:
28	chr7:12421246..12422799-chr7:12438154..12440817,2	K562	blood:
29	chr7:12382799..12385098-chr7:12438700..12441052,2	K562	blood:
30	chr7:12423183..12428504-chr7:12441656..12445145,7	K562	blood:
31	chr7:12408674..12410212-chr7:12426957..12428907,2	K562	blood:
32	chr7:12402068..12405586-chr7:12406959..12410606,5	K562	blood:
33	chr7:12438246..12440772-chr7:12512038..12514677,2	K562	blood:
34	chr7:12399201..12400947-chr7:12402626..12404166,2	K562	blood:
35	chr7:12408712..12411098-chr7:12427407..12429029,2	K562	blood:
36	chr7:12421246..12422799-chr7:12438154..12440817,2	K562	blood:
37	chr7:12389607..12392285-chr7:12392419..12394302,2	K562	blood:
38	chr7:12380686..12382573-chr7:12386582..12389339,2	K562	blood:
39	chr7:12402068..12405586-chr7:12406959..12410606,5	K562	blood:
40	chr7:12391914..12394742-chr7:12414391..12416688,2	K562	blood:
41	chr7:12391712..12393347-chr7:12394959..12396471,2	K562	blood:
42	chr7:12408712..12411098-chr7:12427407..12429029,2	K562	blood:
43	chr7:12391914..12394742-chr7:12414391..12416688,2	K562	blood:
44	chr7:12428351..12429175-chr7:12529458..12530800,4	MCF-7	breast:
45	chr7:12356830..12359604-chr7:12404989..12406571,2	K562	blood:
46	chr7:12391712..12393347-chr7:12394959..12396471,2	K562	blood:
47	chr7:12392619..12394669-chr7:12398215..12400869,2	K562	blood:
48	chr7:12401550..12404872-chr7:12410854..12415444,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203523	chromatin interactions
ENSG00000146530	chromatin interactions
ENSG00000106460	chromatin interactions

Extended variants
information (count: 2407 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2407 , 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	rs10262667	chr7:12385391-12385392	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530301892	chr7:12385441-12385442	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540503630	chr7:12385478-12385479	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75217020	chr7:12385479-12385480	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73296510	chr7:12385503-12385504	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548143224	chr7:12385511-12385512	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2110803	chr7:12385521-12385522	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs6977409	chr7:12385530-12385531	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538677656	chr7:12385539-12385540	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138595133	chr7:12385610-12385611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73296513	chr7:12385619-12385620	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs558273435	chr7:12385661-12385662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529100386	chr7:12385675-12385676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567585436	chr7:12385728-12385729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73296514	chr7:12385787-12385788	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs75517946	chr7:12385794-12385795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566722137	chr7:12385805-12385806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538793573	chr7:12385915-12385916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575138552	chr7:12385960-12385961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs58932362	chr7:12385974-12385975	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs57811574	chr7:12386005-12386006	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs149285726	chr7:12386081-12386082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554296175	chr7:12386128-12386129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56885635	chr7:12386159-12386160	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs59729608	chr7:12386200-12386201	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs1440033	chr7:12386207-12386208	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs111260244	chr7:12386239-12386240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549048666	chr7:12386248-12386249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532569265	chr7:12386253-12386254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368697659	chr7:12386256-12386257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563013553	chr7:12386259-12386260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574317799	chr7:12386308-12386309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144507101	chr7:12386334-12386335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139525936	chr7:12386336-12386337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527684832	chr7:12386382-12386383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1440035	chr7:12386420-12386421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566734430	chr7:12386434-12386435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1440036	chr7:12386448-12386449	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs113960447	chr7:12386480-12386481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115274096	chr7:12386485-12386486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537579072	chr7:12386497-12386498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201575502	chr7:12386522-12386523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4499984	chr7:12386531-12386532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574141447	chr7:12386535-12386536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55717500	chr7:12386536-12386537	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs113348861	chr7:12386549-12386550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375680280	chr7:12386555-12386556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577085232	chr7:12386580-12386581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373050355	chr7:12386591-12386592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145067193	chr7:12386596-12386597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12354400-12405000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:12363800-12392800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:12368200-12433200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:12375800-12387200	Strong transcription	K562	blood
5	chr7:12376400-12385800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:12376800-12385800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:12377000-12408000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:12378400-12385600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:12379000-12386000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:12380600-12393400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:12381800-12390400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:12381800-12429000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:12382800-12390800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:12383400-12401800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:12384800-12385400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr7:12385000-12385600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:12385000-12385800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:12385400-12395200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:12385600-12390800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:12385600-12418000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:12385800-12390000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:12385800-12390200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:12385800-12391400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:12386000-12390200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:12387200-12389200	Weak transcription	K562	blood
26	chr7:12389200-12391600	Strong transcription	K562	blood
27	chr7:12390000-12420600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:12390200-12390600	Enhancers	Fetal Intestine Large	intestine
29	chr7:12390200-12391200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:12390200-12393000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:12390400-12391000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:12390800-12392400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:12390800-12401000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:12391000-12391600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:12391200-12391800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:12391400-12392200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:12391600-12391800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:12391600-12393000	Genic enhancers	K562	blood
39	chr7:12391800-12392200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:12391800-12392400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:12392200-12393000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:12392200-12401800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:12392400-12393400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:12392400-12395600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:12392800-12394000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:12392800-12395800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr7:12393000-12395400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:12393000-12401400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:12393000-12406000	Strong transcription	K562	blood
50	chr7:12393400-12401000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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