Variant report

Variant	nsv820785
Chromosome Location	chr20:26259476-26319513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:26319432..26319932-chr5:54763228..54764208,2	MCF-7	breast:
2	chr20:23852729..23853229-chr20:26319433..26319936,2	MCF-7	breast:
3	chr18:21530746..21532374-chr20:26317917..26320539,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067113	chromatin interactions

Extended variants
information (count: 8278 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:8278 , 50 per page) page: 1 2 3 4 5 6 7 ... 166

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113539826	chr20:26259479-26259480	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540714448	chr20:26259483-26259484	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs75366499	chr20:26259485-26259486	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs113158075	chr20:26259486-26259487	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs79333379	chr20:26259489-26259490	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567963662	chr20:26259501-26259502	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs527424970	chr20:26259513-26259514	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs547186655	chr20:26259515-26259516	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs570482869	chr20:26259540-26259541	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs538870400	chr20:26259541-26259542	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs552319139	chr20:26259542-26259543	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs569245669	chr20:26259559-26259560	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs113951738	chr20:26259589-26259590	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs373877301	chr20:26259595-26259596	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs141972341	chr20:26259609-26259610	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs200329207	chr20:26259619-26259620	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs115468443	chr20:26259627-26259628	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs538127879	chr20:26259632-26259633	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs141826968	chr20:26259634-26259635	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs144167922	chr20:26259640-26259641	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs116012002	chr20:26259641-26259642	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs142022909	chr20:26259643-26259644	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs138089715	chr20:26259644-26259645	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs144285652	chr20:26259649-26259650	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs141105065	chr20:26259650-26259651	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs562138179	chr20:26259659-26259660	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs140688542	chr20:26259660-26259661	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs143249594	chr20:26259672-26259673	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs564122541	chr20:26259673-26259674	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs142835221	chr20:26259678-26259679	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs373146240	chr20:26259696-26259697	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs200336902	chr20:26259706-26259707	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs534149637	chr20:26259711-26259712	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs553994851	chr20:26259741-26259742	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs188310768	chr20:26259742-26259743	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs199769680	chr20:26259755-26259756	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs35972632	chr20:26259758-26259759	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs200252640	chr20:26259773-26259774	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs111766074	chr20:26259775-26259776	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs577375647	chr20:26259777-26259778	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs546052430	chr20:26259780-26259781	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs6051255	chr20:26259781-26259782	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs113660856	chr20:26259792-26259793	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs370307282	chr20:26259793-26259794	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs576454894	chr20:26259796-26259797	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs62199867	chr20:26259810-26259811	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs200608732	chr20:26259820-26259821	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs180682207	chr20:26259826-26259827	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs202017122	chr20:26259829-26259830	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs199616674	chr20:26259831-26259832	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26257400-26259800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:26258400-26263000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr20:26258600-26259800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr20:26259200-26259600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr20:26259200-26260200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:26259200-26260400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
7	chr20:26259200-26260400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
8	chr20:26259200-26260400	ZNF genes & repeats	Fetal Heart	heart
9	chr20:26259200-26260400	Active TSS	Psoas Muscle	Psoas
10	chr20:26259200-26260600	ZNF genes & repeats	Dnd41	blood
11	chr20:26259200-26262600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr20:26259200-26262800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr20:26259400-26262600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr20:26259600-26259800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
15	chr20:26259600-26260400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr20:26259600-26260400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
17	chr20:26259600-26261000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr20:26259600-26262800	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr20:26259800-26260200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
20	chr20:26259800-26260200	ZNF genes & repeats	Colon Smooth Muscle	Colon
21	chr20:26259800-26260400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:26259800-26260400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr20:26259800-26260400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr20:26259800-26260400	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr20:26259800-26260400	ZNF genes & repeats	Liver	Liver
26	chr20:26259800-26260400	ZNF genes & repeats	Gastric	stomach
27	chr20:26259800-26260400	ZNF genes & repeats	NH-A	brain
28	chr20:26260000-26260200	ZNF genes & repeats	K562	blood
29	chr20:26260200-26260400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
30	chr20:26260200-26262200	Weak transcription	K562	blood
31	chr20:26260400-26260600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr20:26260400-26261200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr20:26260400-26261400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr20:26260400-26261400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr20:26260400-26262200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr20:26260400-26262200	Weak transcription	Psoas Muscle	Psoas
37	chr20:26260400-26265400	Weak transcription	NH-A	brain
38	chr20:26260600-26261600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr20:26261000-26261800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr20:26261200-26266000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr20:26261400-26261600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr20:26261400-26262600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr20:26261600-26262200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr20:26261600-26262200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr20:26261600-26262200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr20:26261800-26262600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr20:26262000-26262400	ZNF genes & repeats	Liver	Liver
48	chr20:26262000-26262600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
49	chr20:26262200-26262400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr20:26262200-26262600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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