Variant report

Variant	nsv562813
Chromosome Location	chr13:98105345-98107983
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	chr13:98101269..98103532-chr13:98103985..98105508,2	K562	blood:
2	chr13:98092330..98094545-chr13:98105031..98106935,2	MCF-7	breast:

Extended variants
information (count: 81 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7335097	chr13:98105345-98105346	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573898360	chr13:98105380-98105381	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34370746	chr13:98105385-98105386	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546050170	chr13:98105431-98105432	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542909845	chr13:98105454-98105455	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546122875	chr13:98105492-98105493	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556707365	chr13:98105590-98105591	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376897403	chr13:98105641-98105642	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576605214	chr13:98105656-98105657	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369427466	chr13:98105660-98105661	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373326336	chr13:98105705-98105706	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182995452	chr13:98105714-98105715	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188437554	chr13:98105745-98105746	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561997971	chr13:98105778-98105779	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9513244	chr13:98105832-98105833	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541406073	chr13:98105860-98105861	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564497183	chr13:98105902-98105903	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145183607	chr13:98105916-98105917	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550142536	chr13:98105966-98105967	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74745822	chr13:98105999-98106000	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529033882	chr13:98106091-98106092	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140460845	chr13:98106096-98106097	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565605503	chr13:98106101-98106102	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192731893	chr13:98106109-98106110	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150425208	chr13:98106136-98106137	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374239480	chr13:98106164-98106165	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550941039	chr13:98106205-98106206	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570951335	chr13:98106226-98106227	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138228154	chr13:98106243-98106244	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74105469	chr13:98106248-98106249	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142792258	chr13:98106284-98106285	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371332338	chr13:98106306-98106307	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543258728	chr13:98106355-98106356	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556232099	chr13:98106356-98106357	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57396548	chr13:98106420-98106421	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544573851	chr13:98106476-98106477	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541569588	chr13:98106494-98106495	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564467180	chr13:98106511-98106512	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578106372	chr13:98106522-98106523	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543804768	chr13:98106558-98106559	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151107228	chr13:98106580-98106581	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74105470	chr13:98106645-98106646	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs114404837	chr13:98106683-98106684	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548877758	chr13:98106697-98106698	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373510510	chr13:98106771-98106772	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530610743	chr13:98106800-98106801	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559150185	chr13:98106845-98106846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs183610859	chr13:98106890-98106891	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs188372679	chr13:98106899-98106900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs561531690	chr13:98106972-98106973	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	21785460	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:98087400-98122200	Weak transcription	Gastric	stomach
2	chr13:98087600-98116400	Weak transcription	Esophagus	oesophagus
3	chr13:98087600-98124400	Weak transcription	Pancreas	Pancrea
4	chr13:98088400-98108000	Weak transcription	Fetal Thymus	thymus
5	chr13:98088400-98111600	Weak transcription	Psoas Muscle	Psoas
6	chr13:98088400-98116400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr13:98088600-98112800	Weak transcription	Thymus	Thymus
8	chr13:98088600-98119600	Weak transcription	NH-A	brain
9	chr13:98088800-98105600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr13:98088800-98105600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr13:98088800-98111800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr13:98088800-98116400	Weak transcription	Fetal Intestine Small	intestine
13	chr13:98088800-98118000	Weak transcription	HMEC	breast
14	chr13:98088800-98118400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:98088800-98119000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:98089000-98116400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr13:98089200-98111800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:98089200-98111800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr13:98089200-98116400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:98089200-98116400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:98089200-98116400	Weak transcription	NHEK	skin
22	chr13:98089200-98126600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr13:98089800-98106200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr13:98089800-98107000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr13:98089800-98107600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr13:98089800-98122800	Weak transcription	Small Intestine	intestine
27	chr13:98090000-98105600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr13:98090800-98116400	Weak transcription	Aorta	Aorta
29	chr13:98091000-98111400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr13:98091200-98106000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr13:98091200-98112800	Weak transcription	Right Ventricle	heart
32	chr13:98091400-98108000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr13:98091800-98111600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr13:98091800-98116200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:98091800-98116400	Weak transcription	HUVEC	blood vessel
36	chr13:98091800-98123000	Weak transcription	HSMM	muscle
37	chr13:98092000-98107200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr13:98092000-98110600	Weak transcription	Fetal Heart	heart
39	chr13:98092000-98111800	Weak transcription	Fetal Brain Male	brain
40	chr13:98092000-98115200	Weak transcription	HepG2	liver
41	chr13:98092000-98116400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr13:98092400-98108000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr13:98092800-98111600	Weak transcription	Placenta	Placenta
44	chr13:98093400-98106000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr13:98093600-98111400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:98093800-98105400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr13:98093800-98105400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:98095800-98112200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr13:98096000-98107800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr13:98097400-98112400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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