Variant report

Variant	nsv562750
Chromosome Location	chr13:94121685-94139382
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	chr13:94130713..94132921-chr13:94134439..94135999,2	K562	blood:
2	chr13:94130713..94132921-chr13:94134439..94135999,2	K562	blood:

Extended variants
information (count: 496 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs970263	chr13:94121685-94121686	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558131487	chr13:94121690-94121691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs577984366	chr13:94121703-94121704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs543480640	chr13:94121748-94121749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs75986932	chr13:94121857-94121858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs138409825	chr13:94121864-94121865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs551166836	chr13:94121944-94121945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs542358225	chr13:94121968-94121969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs369895251	chr13:94121980-94121981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs142985685	chr13:94122012-94122013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs528698832	chr13:94122043-94122044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs61355546	chr13:94122045-94122046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs397780605	chr13:94122051-94122052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs565264205	chr13:94122052-94122053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs55750873	chr13:94122056-94122057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs76403280	chr13:94122100-94122101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs189704827	chr13:94122102-94122103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs530064762	chr13:94122109-94122110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs554281076	chr13:94122111-94122112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs56085911	chr13:94122119-94122120	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539781540	chr13:94122126-94122127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs566968751	chr13:94122175-94122176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs9584116	chr13:94122201-94122202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs557971571	chr13:94122235-94122236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs571434362	chr13:94122260-94122261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs537367085	chr13:94122264-94122265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs557172154	chr13:94122331-94122332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs181221291	chr13:94122356-94122357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs75665523	chr13:94122380-94122381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs186201912	chr13:94122394-94122395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs566343691	chr13:94122403-94122404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs552837388	chr13:94122411-94122412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs71643708	chr13:94122418-94122419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs373270673	chr13:94122443-94122444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs147169399	chr13:94122460-94122461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs572580648	chr13:94122517-94122518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs576668649	chr13:94122539-94122540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs3075912	chr13:94122545-94122546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs545230469	chr13:94122575-94122576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs150740905	chr13:94122578-94122579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs561928177	chr13:94122623-94122624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs575404812	chr13:94122627-94122628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs538390063	chr13:94122636-94122637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs114720590	chr13:94122650-94122651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs561618906	chr13:94122701-94122702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs574218307	chr13:94122706-94122707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs530086025	chr13:94122721-94122722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs375576608	chr13:94122730-94122731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs2590548	chr13:94122780-94122781	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs114139037	chr13:94122797-94122798	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
Metanephric adenoma	20802469	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
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelofibrosis	22110671	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

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94121600-94123400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94124600-94125400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:94124600-94126200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:94124800-94126200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:94125200-94125800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:94125400-94125800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:94125600-94126000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:94125600-94126200	Enhancers	Fetal Muscle Trunk	muscle
9	chr13:94125600-94127400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:94125800-94126000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:94125800-94126400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:94125800-94126800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr13:94125800-94126800	Enhancers	HSMMtube	muscle
14	chr13:94125800-94127200	Enhancers	HSMM	muscle
15	chr13:94125800-94127400	Enhancers	Ovary	ovary
16	chr13:94126000-94127000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:94126000-94128600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:94126200-94126600	Enhancers	Liver	Liver
19	chr13:94126200-94126600	Enhancers	Fetal Muscle Leg	muscle
20	chr13:94126200-94127000	Enhancers	A549	lung
21	chr13:94126200-94128400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:94126400-94126600	Enhancers	NH-A	brain
23	chr13:94126400-94126600	Enhancers	Osteobl	bone
24	chr13:94126400-94126800	Enhancers	Colon Smooth Muscle	Colon
25	chr13:94126400-94126800	Enhancers	HepG2	liver
26	chr13:94126400-94127000	Enhancers	Fetal Lung	lung
27	chr13:94126400-94128200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:94126800-94127000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr13:94126800-94128000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr13:94126800-94128000	Weak transcription	HSMMtube	muscle
31	chr13:94126800-94128000	Weak transcription	Osteobl	bone
32	chr13:94127000-94128000	Weak transcription	Fetal Lung	lung
33	chr13:94127000-94128000	Weak transcription	A549	lung
34	chr13:94127000-94128400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr13:94127000-94128600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:94127200-94128600	Weak transcription	HSMM	muscle
37	chr13:94127400-94127600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr13:94127400-94128400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr13:94127400-94128600	Weak transcription	Ovary	ovary
40	chr13:94127600-94128200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr13:94127800-94129000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr13:94128000-94128400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr13:94128000-94128800	Enhancers	A549	lung
44	chr13:94128000-94129000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr13:94128000-94129000	Enhancers	HSMMtube	muscle
46	chr13:94128000-94130000	Enhancers	Osteobl	bone
47	chr13:94128200-94129000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:94128200-94129200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr13:94128400-94128600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr13:94128400-94128600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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