Variant report

Variant	nsv428685
Chromosome Location	chr20:9644231-9800536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:9673801..9675445-chr20:9678598..9681508,2	K562	blood:
2	chr20:9673801..9675445-chr20:9678598..9681508,2	K562	blood:
3	chr20:9771085..9773412-chr20:9787268..9789058,2	MCF-7	breast:
4	chr20:9771085..9773412-chr20:9787268..9789058,2	MCF-7	breast:
5	chr20:9722151..9724479-chr20:9740569..9742504,2	K562	blood:
6	chr20:9722151..9724479-chr20:9740569..9742504,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MKKS-8	chr20:9748764-9751753	NONHSAT078567

No data

Extended variants
information (count: 4373 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:4373 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540069423	chr20:9644266-9644267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550855222	chr20:9644436-9644437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549834677	chr20:9644450-9644451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150592600	chr20:9644451-9644452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139607151	chr20:9644452-9644453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542940390	chr20:9644490-9644491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187718501	chr20:9644520-9644521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4816160	chr20:9644533-9644534	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546641164	chr20:9649425-9649426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145155297	chr20:9649477-9649478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573331877	chr20:9649523-9649524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527882105	chr20:9649534-9649535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386812382	chr20:9649537-9649538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564931842	chr20:9649539-9649540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569147265	chr20:9649583-9649584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538146087	chr20:9649602-9649603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187205199	chr20:9649664-9649665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577928269	chr20:9649718-9649719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540282078	chr20:9649762-9649763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs8124354	chr20:9649771-9649772	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375828091	chr20:9649786-9649787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574027047	chr20:9649801-9649802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544806941	chr20:9649804-9649805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545221165	chr20:9649868-9649869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75893567	chr20:9649878-9649879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561863298	chr20:9649885-9649886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2423403	chr20:9649946-9649947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs193145515	chr20:9649972-9649973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564241297	chr20:9650004-9650005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532913664	chr20:9650019-9650020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73241000	chr20:9650026-9650027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560128695	chr20:9650080-9650081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528948189	chr20:9650104-9650105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73241001	chr20:9650163-9650164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375682197	chr20:9650225-9650226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146917849	chr20:9650229-9650230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373027369	chr20:9650308-9650309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6077578	chr20:9650340-9650341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185638948	chr20:9650341-9650342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553863138	chr20:9650360-9650361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2206480	chr20:9650385-9650386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs368487541	chr20:9650412-9650413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2206479	chr20:9650419-9650420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs6086980	chr20:9650435-9650436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575479795	chr20:9650446-9650447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6056791	chr20:9650457-9650458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs189320502	chr20:9650486-9650487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577845828	chr20:9650497-9650498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540563209	chr20:9650529-9650530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs5840324	chr20:9650572-9650573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
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
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
abnormal development	18461090	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21804112	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20409316	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Psychosis	24474471	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:9641600-9644600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:9643600-9644600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr20:9643800-9644600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr20:9644000-9644400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr20:9644000-9644600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr20:9644000-9644600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr20:9644200-9644600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr20:9649400-9649800	Enhancers	Fetal Brain Female	brain
9	chr20:9649800-9653600	Weak transcription	Fetal Brain Female	brain
10	chr20:9653000-9653200	Enhancers	Fetal Brain Male	brain
11	chr20:9653200-9654200	Weak transcription	Fetal Brain Male	brain
12	chr20:9653600-9654600	Enhancers	Fetal Brain Female	brain
13	chr20:9654000-9655600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr20:9654200-9655000	Enhancers	Fetal Brain Male	brain
15	chr20:9665400-9665600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr20:9665600-9678200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr20:9666400-9668000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:9666800-9667200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr20:9666800-9667400	Enhancers	Right Atrium	heart
20	chr20:9666800-9667600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr20:9667000-9667400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr20:9667000-9667400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr20:9667000-9667800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr20:9667000-9668000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr20:9667200-9667600	Enhancers	Brain Anterior Caudate	brain
26	chr20:9667400-9668000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr20:9667400-9671400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr20:9667600-9668400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr20:9668000-9669000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr20:9668400-9669400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr20:9669000-9669400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr20:9669000-9669600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr20:9669200-9669400	Enhancers	Brain Anterior Caudate	brain
34	chr20:9669400-9670600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr20:9669600-9670400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr20:9670200-9671000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr20:9670400-9670800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr20:9670600-9671000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr20:9678200-9682000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr20:9679200-9679600	Enhancers	Colon Smooth Muscle	Colon
41	chr20:9679200-9679800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr20:9679200-9680400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr20:9679200-9682000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr20:9679600-9679800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr20:9679600-9680000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr20:9679600-9680600	Enhancers	HMEC	breast
47	chr20:9679800-9680600	Enhancers	NHEK	skin
48	chr20:9680400-9680600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr20:9680400-9681000	Enhancers	Fetal Thymus	thymus
50	chr20:9682000-9691000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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