Variant report

Variant	nsv562823
Chromosome Location	chr13:98106607-98108361
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	chr13:98092330..98094545-chr13:98105031..98106935,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74105470	chr13:98106645-98106646	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114404837	chr13:98106683-98106684	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548877758	chr13:98106697-98106698	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373510510	chr13:98106771-98106772	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530610743	chr13:98106800-98106801	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559150185	chr13:98106845-98106846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs183610859	chr13:98106890-98106891	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs188372679	chr13:98106899-98106900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs561531690	chr13:98106972-98106973	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs56209531	chr13:98107048-98107049	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs370263666	chr13:98107054-98107055	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs192408513	chr13:98107096-98107097	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs185053938	chr13:98107196-98107197	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs12323151	chr13:98107233-98107234	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs555664231	chr13:98107245-98107246	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs199603322	chr13:98107250-98107251	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs139757816	chr13:98107251-98107252	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs370867070	chr13:98107252-98107253	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs61003179	chr13:98107253-98107254	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs534570496	chr13:98107300-98107301	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs182177426	chr13:98107306-98107307	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs374166081	chr13:98107309-98107310	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs535122640	chr13:98107325-98107326	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs558237991	chr13:98107358-98107359	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs578153660	chr13:98107381-98107382	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs186314046	chr13:98107454-98107455	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545317500	chr13:98107484-98107485	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563724502	chr13:98107502-98107503	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189687614	chr13:98107514-98107515	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138171855	chr13:98107558-98107559	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559119049	chr13:98107671-98107672	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs528225140	chr13:98107781-98107782	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs35782312	chr13:98107795-98107796	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs74105471	chr13:98107828-98107829	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs78415243	chr13:98107846-98107847	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs530649145	chr13:98107888-98107889	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs148607156	chr13:98107893-98107894	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs530188740	chr13:98107920-98107921	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs141157721	chr13:98107934-98107935	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs575248442	chr13:98107982-98107983	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs375987892	chr13:98108017-98108018	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs529548429	chr13:98108034-98108035	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs547329494	chr13:98108035-98108036	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs150736925	chr13:98108165-98108166	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs567137911	chr13:98108177-98108178	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs9670708	chr13:98108203-98108204	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs78362127	chr13:98108221-98108222	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs74105472	chr13:98108227-98108228	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs74105473	chr13:98108246-98108247	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs574025547	chr13:98108252-98108253	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	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:118 , 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	chr13:98088800-98111800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr13:98088800-98116400	Weak transcription	Fetal Intestine Small	intestine
11	chr13:98088800-98118000	Weak transcription	HMEC	breast
12	chr13:98088800-98118400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:98088800-98119000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:98089000-98116400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr13:98089200-98111800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:98089200-98111800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:98089200-98116400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:98089200-98116400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:98089200-98116400	Weak transcription	NHEK	skin
20	chr13:98089200-98126600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr13:98089800-98107000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr13:98089800-98107600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr13:98089800-98122800	Weak transcription	Small Intestine	intestine
24	chr13:98090800-98116400	Weak transcription	Aorta	Aorta
25	chr13:98091000-98111400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr13:98091200-98112800	Weak transcription	Right Ventricle	heart
27	chr13:98091400-98108000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr13:98091800-98111600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr13:98091800-98116200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:98091800-98116400	Weak transcription	HUVEC	blood vessel
31	chr13:98091800-98123000	Weak transcription	HSMM	muscle
32	chr13:98092000-98107200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr13:98092000-98110600	Weak transcription	Fetal Heart	heart
34	chr13:98092000-98111800	Weak transcription	Fetal Brain Male	brain
35	chr13:98092000-98115200	Weak transcription	HepG2	liver
36	chr13:98092000-98116400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr13:98092400-98108000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:98092800-98111600	Weak transcription	Placenta	Placenta
39	chr13:98093600-98111400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:98095800-98112200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr13:98096000-98107800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr13:98097400-98112400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr13:98098200-98116400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:98098800-98111600	Weak transcription	Brain Hippocampus Middle	brain
45	chr13:98101200-98117400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr13:98101400-98106800	Weak transcription	Primary T cells from cord blood	blood
47	chr13:98101400-98111400	Weak transcription	NHDF-Ad	bronchial
48	chr13:98101400-98111600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:98101400-98116400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr13:98101400-98116400	Weak transcription	Fetal Stomach	stomach

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