Variant report

Variant	nsv887624
Chromosome Location	chr7:11941048-12023864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:11961967..11964021-chr7:11967210..11969257,2	K562	blood:
2	chr7:11961967..11964021-chr7:11967210..11969257,2	K562	blood:

Extended variants
information (count: 1306 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1306 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10250872	chr7:11941048-11941049	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs565590655	chr7:11941049-11941050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534600855	chr7:11941127-11941128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573814023	chr7:11941179-11941180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547792253	chr7:11950007-11950008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6943159	chr7:11950061-11950062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs527970577	chr7:11950068-11950069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11984222	chr7:11950090-11950091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571003734	chr7:11950103-11950104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11980587	chr7:11950112-11950113	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs377264914	chr7:11950113-11950114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73285020	chr7:11950150-11950151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs386710359	chr7:11950219-11950220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114518669	chr7:11950220-11950221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572510486	chr7:11950236-11950237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113629153	chr7:11950238-11950239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540503906	chr7:11950244-11950245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532404470	chr7:11950247-11950248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546173691	chr7:11950248-11950249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553807847	chr7:11950255-11950256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142143485	chr7:11950257-11950258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567407626	chr7:11950282-11950283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545694196	chr7:11950302-11950303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11297644	chr7:11950311-11950312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562203251	chr7:11950383-11950384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531308120	chr7:11950401-11950402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541566348	chr7:11950423-11950424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113345847	chr7:11950478-11950479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28669306	chr7:11950479-11950480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs527317426	chr7:11950485-11950486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548043150	chr7:11950492-11950493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372536452	chr7:11950522-11950523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143089238	chr7:11950539-11950540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148207077	chr7:11950556-11950557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111493121	chr7:11950562-11950563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114033570	chr7:11950583-11950584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549531443	chr7:11950614-11950615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2355761	chr7:11950625-11950626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs192572982	chr7:11950637-11950638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184476451	chr7:11950664-11950665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376139548	chr7:11950666-11950667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189185439	chr7:11950676-11950677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572478477	chr7:11950723-11950724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141174122	chr7:11950725-11950726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181271353	chr7:11950745-11950746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568334666	chr7:11950746-11950747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184949875	chr7:11950765-11950766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561469720	chr7:11950777-11950778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17266597	chr7:11950780-11950781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs556066738	chr7:11951208-11951209	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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 ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11940200-11941200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:11940600-11941200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:11940800-11941200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:11950000-11950800	Enhancers	Hela-S3	cervix
5	chr7:11951200-11951800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:11951200-11952400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:11951400-11951800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:11951400-11951800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:11951400-11951800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:11951400-11952000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:11951400-11952000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:11951400-11952200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:11951600-11952000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:11951600-11952000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:11969800-11971400	Enhancers	Hela-S3	cervix
16	chr7:11971000-11971800	Active TSS	A549	lung
17	chr7:11975800-11976200	Enhancers	Fetal Lung	lung
18	chr7:11989200-11989800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:11989400-11989600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:11989400-11989600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:11989400-11989600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:11989400-11989800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:11989400-11990200	ZNF genes & repeats	Pancreas	Pancrea
24	chr7:11989600-11997200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:11989800-11990000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:11989800-11990600	Enhancers	Placenta	Placenta
27	chr7:11989800-11991200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:11990400-11990800	Weak transcription	Pancreas	Pancrea
29	chr7:11990400-11991000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr7:11991000-11991400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:11991400-11991800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:11995600-11997200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:11997200-11997400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr7:11997400-11997600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:11997400-12009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:11997600-11997800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr7:11997600-11997800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:11997800-11998400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:11997800-11998400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:11998000-11999000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:11998400-11998600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr7:11998400-11998800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr7:11998400-11999200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:11998600-11998800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr7:11998600-12000400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr7:11998800-11999000	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr7:11998800-11999600	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr7:11998800-11999800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr7:11999000-11999200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr7:11999000-11999400	Active TSS	HUES6 Cell Line	embryonic stem cell

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