Variant report

Variant	nsv912697
Chromosome Location	chr20:14637084-14731595
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
2	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
3	chr20:14606804..14608358-chr20:14690132..14692728,2	MCF-7	breast:
4	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
5	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
6	chr20:14657146..14658733-chr20:17661268..17663723,2	MCF-7	breast:
7	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
8	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-3	chr20:14665489-14665605	NONHSAT078714
2	lnc-C20orf7-3	chr20:14665489-14665605	NONHSAT078716

No data

Variant related genes	Relation type
ENSG00000227927	chromatin interactions
ENSG00000125844	chromatin interactions

Extended variants
information (count: 2932 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2932 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8183523	chr20:14637084-14637085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535289210	chr20:14637111-14637112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6110377	chr20:14637132-14637133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571994486	chr20:14637147-14637148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188972965	chr20:14637152-14637153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545721525	chr20:14637159-14637160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6110378	chr20:14637216-14637217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564322639	chr20:14637242-14637243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181373226	chr20:14637274-14637275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576425881	chr20:14637296-14637297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139191184	chr20:14637310-14637311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562217136	chr20:14637333-14637334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376816071	chr20:14637347-14637348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533386727	chr20:14637378-14637379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186744261	chr20:14637518-14637519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191138867	chr20:14637558-14637559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545124730	chr20:14637559-14637560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76661629	chr20:14637565-14637566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537850074	chr20:14637575-14637576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116122568	chr20:14637614-14637615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567831621	chr20:14637616-14637617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535208162	chr20:14637637-14637638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181022865	chr20:14637659-14637660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571957754	chr20:14637749-14637750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539340183	chr20:14637772-14637773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185859986	chr20:14637803-14637804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576314114	chr20:14637810-14637811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564798990	chr20:14637818-14637819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373076570	chr20:14637836-14637837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375856916	chr20:14637853-14637854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543812673	chr20:14637857-14637858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546630227	chr20:14637874-14637875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190911299	chr20:14637897-14637898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574158403	chr20:14637899-14637900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541583786	chr20:14637908-14637909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559975384	chr20:14637911-14637912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116369878	chr20:14637957-14637958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545329944	chr20:14637974-14637975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371811756	chr20:14637988-14637989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6042840	chr20:14638057-14638058	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530542385	chr20:14638093-14638094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368804388	chr20:14638102-14638103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372172694	chr20:14638158-14638159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550293614	chr20:14638295-14638296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567580969	chr20:14638335-14638336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547054267	chr20:14638367-14638368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545204714	chr20:14638405-14638406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139062637	chr20:14638407-14638408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183414647	chr20:14638434-14638435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149882442	chr20:14638464-14638465	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
early-passage human iPS cells	21368824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14636800-14637600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr20:14636800-14638200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr20:14637200-14639000	Enhancers	Fetal Lung	lung
4	chr20:14637600-14638200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr20:14637600-14638600	Enhancers	Fetal Stomach	stomach
6	chr20:14637600-14638800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr20:14637800-14638200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr20:14638000-14638200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr20:14638000-14638600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr20:14638200-14638400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr20:14638400-14638800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:14638600-14640000	Weak transcription	Fetal Stomach	stomach
13	chr20:14639000-14640600	Weak transcription	Fetal Lung	lung
14	chr20:14640000-14640400	Enhancers	Fetal Stomach	stomach
15	chr20:14640400-14647400	Weak transcription	Fetal Stomach	stomach
16	chr20:14640600-14640800	Enhancers	Fetal Lung	lung
17	chr20:14644000-14645600	Enhancers	Fetal Brain Male	brain
18	chr20:14644800-14645200	Enhancers	Rectal Smooth Muscle	rectum
19	chr20:14644800-14645400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr20:14645200-14645400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr20:14645400-14645800	Enhancers	Rectal Smooth Muscle	rectum
22	chr20:14645600-14647400	Weak transcription	Fetal Brain Male	brain
23	chr20:14645800-14647600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr20:14647000-14648600	Enhancers	Fetal Kidney	kidney
25	chr20:14647400-14647800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr20:14647400-14647800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:14647400-14647800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr20:14647400-14647800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr20:14647400-14647800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr20:14647400-14648600	Enhancers	Colon Smooth Muscle	Colon
31	chr20:14647400-14648600	Enhancers	Fetal Brain Female	brain
32	chr20:14647400-14648600	Enhancers	Fetal Stomach	stomach
33	chr20:14647400-14648800	Enhancers	Fetal Brain Male	brain
34	chr20:14647600-14647800	Enhancers	Rectal Smooth Muscle	rectum
35	chr20:14647600-14647800	Enhancers	Small Intestine	intestine
36	chr20:14647600-14648000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr20:14647600-14648400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr20:14647800-14651400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr20:14648400-14653600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr20:14648600-14651400	Weak transcription	Fetal Kidney	kidney
41	chr20:14648600-14652400	Weak transcription	Fetal Stomach	stomach
42	chr20:14648800-14649200	Enhancers	Fetal Intestine Small	intestine
43	chr20:14652400-14653200	Enhancers	Fetal Stomach	stomach
44	chr20:14652600-14653200	Enhancers	Fetal Lung	lung
45	chr20:14653000-14654400	Enhancers	Fetal Intestine Large	intestine
46	chr20:14653600-14654000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr20:14653800-14654200	Enhancers	Fetal Heart	heart
48	chr20:14658200-14658800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr20:14659800-14660600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr20:14659800-14661600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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