Variant report

Variant	nsv1026185
Chromosome Location	chr7:19564488-19612246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:19610590..19613391-chr7:19614778..19616457,3	K562	blood:
2	chr7:18732759..18733606-chr7:19591000..19591516,2	MCF-7	breast:
3	chr1:102456863..102457700-chr7:19592037..19592862,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HDAC9-12	chr7:19582435-19582566	NONHSAT119386
2	lnc-HDAC9-12	chr7:19584677-19584754	NONHSAT119386

Extended variants
information (count: 2355 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2355 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530926748	chr7:19564515-19564516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77373636	chr7:19564547-19564548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377189438	chr7:19564550-19564551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570889574	chr7:19564557-19564558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368706387	chr7:19564566-19564567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371651891	chr7:19564571-19564572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374578354	chr7:19564573-19564574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374919024	chr7:19564574-19564575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369273463	chr7:19564578-19564579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372786675	chr7:19564582-19564583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375007043	chr7:19564587-19564588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369442147	chr7:19564592-19564593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373173345	chr7:19564597-19564598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368656585	chr7:19564602-19564603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56954989	chr7:19564607-19564608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553599389	chr7:19564608-19564609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200547151	chr7:19564612-19564613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201731113	chr7:19564617-19564618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs67192978	chr7:19564628-19564629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202057195	chr7:19564629-19564630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200311809	chr7:19564630-19564631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534813647	chr7:19564653-19564654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568768474	chr7:19564672-19564673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149365314	chr7:19564673-19564674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565224127	chr7:19564702-19564703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147485163	chr7:19564734-19564735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2110475	chr7:19564740-19564741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs539180965	chr7:19564783-19564784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11769637	chr7:19564790-19564791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572537631	chr7:19564802-19564803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539829746	chr7:19564814-19564815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182578523	chr7:19564842-19564843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573854046	chr7:19564879-19564880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562846588	chr7:19564893-19564894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544462524	chr7:19564921-19564922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375510572	chr7:19564931-19564932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186565587	chr7:19564947-19564948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189635731	chr7:19564960-19564961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114279065	chr7:19564962-19564963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182710757	chr7:19564976-19564977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150083312	chr7:19564977-19564978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368331304	chr7:19565001-19565002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7794428	chr7:19565006-19565007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs145366278	chr7:19565010-19565011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1029997	chr7:19565016-19565017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551227482	chr7:19565028-19565029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189019693	chr7:19565037-19565038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540005323	chr7:19565045-19565046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557467954	chr7:19565152-19565153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148806119	chr7:19565162-19565163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19563000-19566000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:19563200-19565800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:19563400-19577400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:19563600-19565200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:19563600-19565600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:19565200-19567400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:19565600-19567000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:19565800-19567200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:19566000-19566600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:19567000-19569400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:19567400-19569600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:19569400-19570200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:19569600-19570600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:19569600-19571000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:19570200-19573200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:19571000-19575800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:19573200-19574400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:19574000-19574600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:19574400-19577200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:19574600-19577200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:19575800-19577200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:19576800-19578400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:19577200-19577400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:19577200-19577400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:19577200-19577400	Enhancers	Brain Anterior Caudate	brain
26	chr7:19577200-19577400	Enhancers	Rectal Smooth Muscle	rectum
27	chr7:19577200-19577600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:19577200-19577600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:19577200-19577600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:19577200-19577800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:19577200-19578000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:19577200-19578000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:19577200-19578000	Enhancers	Colon Smooth Muscle	Colon
34	chr7:19577200-19578000	Active TSS	Osteobl	bone
35	chr7:19577400-19577600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:19577400-19577600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr7:19577400-19577600	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr7:19577400-19577800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:19577400-19577800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:19577400-19577800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:19577400-19577800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:19577400-19577800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr7:19577400-19577800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:19577400-19577800	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr7:19577400-19577800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr7:19577400-19578000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr7:19577400-19578000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr7:19577400-19578000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr7:19577400-19578000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr7:19577400-19578000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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