Variant report

Variant	esv2830282
Chromosome Location	chr20:12810367-12890206
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:0)
LncRNA
region (count:35)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TASP1-4	chr20:12845850-12846325	XLOC_013657
2	lnc-TASP1-4	chr20:12882956-12883068	XLOC_013657
3	lnc-TASP1-4	chr20:12882956-12883068	NR_109868
4	lnc-SPTLC3-7	chr20:12865677-12865842	NONHSAT078660
5	lnc-TASP1-4	chr20:12873289-12874074	NR_109868
6	lnc-TASP1-4	chr20:12874995-12875149	XLOC_013657
7	lnc-TASP1-4	chr20:12847152-12847253	NR_109868
8	lnc-SPTLC3-6	chr20:12880099-12880275	NONHSAT078661
9	lnc-TASP1-4	chr20:12880413-12881167	NONHSAT078658
10	lnc-TASP1-4	chr20:12847152-12847253	XLOC_013657
11	lnc-TASP1-4	chr20:12822995-12823149	NONHSAT078658
12	lnc-SPTLC3-7	chr20:12864687-12865004	NONHSAT078660
13	lnc-TASP1-4	chr20:12873792-12873840	NONHSAT078658
14	lnc-TASP1-4	chr20:12873289-12874074	XLOC_013657
15	lnc-TASP1-4	chr20:12830956-12831068	NONHSAT078658
16	lnc-SPTLC3-6	chr20:12880099-12880312	l_2074_chr20:12878963-12880265_testes
17	lnc-TASP1-4	chr20:12849277-12849369	NONHSAT078658
18	lnc-TASP1-4	chr20:12879048-12879134	NONHSAT078658
19	lnc-TASP1-4	chr20:12845852-12846325	NR_109868
20	lnc-TASP1-4	chr20:12835643-12835764	NONHSAT078658
21	lnc-TASP1-4	chr20:12853380-12853556	NONHSAT078658
22	lnc-TASP1-4	chr20:12869467-12869584	NONHSAT078658
23	lnc-TASP1-4	chr20:12887643-12887764	NR_109868
24	lnc-TASP1-4	chr20:12874995-12875149	NR_109868
25	lnc-TASP1-4	chr20:12887643-12887764	XLOC_013657
26	lnc-SPTLC3-7	chr20:12864459-12865019	l_2073_chr20:12864458-12867201_testes
27	lnc-TASP1-11	chr20:12864459-12865019	l_2072_chr20:12863490-12865004_testes
28	lnc-SPTLC3-7	chr20:12865976-12866101	l_2073_chr20:12864458-12867201_testes
29	lnc-SPTLC3-6	chr20:12878964-12879409	l_2074_chr20:12878963-12880265_testes
30	lnc-TASP1-11	chr20:12863491-12864122	l_2072_chr20:12863490-12865004_testes
31	lnc-TASP1-11	chr20:12865380-12865975	l_2072_chr20:12863490-12865004_testes
32	lnc-SPTLC3-7	chr20:12865677-12865975	l_2073_chr20:12864458-12867201_testes
33	lnc-SPTLC3-7	chr20:12866681-12867201	l_2073_chr20:12864458-12867201_testes
34	lnc-SPTLC3-6	chr20:12878986-12879409	NONHSAT078661
35	lnc-TASP1-4	chr20:12821289-12822074	NONHSAT078658

No data

Extended variants
information (count: 1604 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1604 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4814168	chr20:12810367-12810368	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188427352	chr20:12810379-12810380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536255188	chr20:12810408-12810409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549565488	chr20:12810439-12810440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569755235	chr20:12810477-12810478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538409996	chr20:12810522-12810523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558370400	chr20:12810531-12810532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578232368	chr20:12810535-12810536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534494890	chr20:12810559-12810560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6078780	chr20:12810580-12810581	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181866887	chr20:12810582-12810583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531687447	chr20:12810628-12810629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs845576	chr20:12810636-12810637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185842680	chr20:12810644-12810645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373273771	chr20:12810650-12810651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545132167	chr20:12810656-12810657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576742069	chr20:12810678-12810679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545481807	chr20:12810680-12810681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540929495	chr20:12810707-12810708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561241279	chr20:12810714-12810715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529630020	chr20:12810720-12810721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs845577	chr20:12810726-12810727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569704769	chr20:12810745-12810746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575971953	chr20:12810782-12810783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532226079	chr20:12810808-12810809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370676329	chr20:12810810-12810811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1234785	chr20:12810826-12810827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs845578	chr20:12810829-12810830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1236465	chr20:12810832-12810833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200704016	chr20:12810868-12810869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35270775	chr20:12810874-12810875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571861840	chr20:12810888-12810889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190414237	chr20:12810890-12810891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534400547	chr20:12810919-12810920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561574499	chr20:12810946-12810947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181604419	chr20:12811008-12811009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536217386	chr20:12811116-12811117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556505124	chr20:12811152-12811153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576054878	chr20:12811160-12811161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186841274	chr20:12811162-12811163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148126965	chr20:12811234-12811235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527498868	chr20:12811279-12811280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6109573	chr20:12811517-12811518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76857227	chr20:12811552-12811553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560990671	chr20:12811554-12811555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529988596	chr20:12811574-12811575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540695202	chr20:12811603-12811604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543382704	chr20:12811606-12811607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189971004	chr20:12811657-12811658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372263857	chr20:12811661-12811662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12808600-12818200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:12809000-12816400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr20:12810200-12810600	Enhancers	Brain Germinal Matrix	brain
4	chr20:12815400-12815600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr20:12815600-12816200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr20:12815800-12816800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr20:12816200-12816800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr20:12816400-12816600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr20:12816400-12816800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr20:12816400-12816800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr20:12816400-12816800	Enhancers	HMEC	breast
12	chr20:12816400-12816800	Enhancers	NHEK	skin
13	chr20:12816400-12817000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr20:12816400-12817000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr20:12816600-12816800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr20:12816600-12816800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr20:12816600-12817000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr20:12816600-12817600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr20:12816800-12818400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr20:12816800-12818400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr20:12816800-12818400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr20:12817000-12818200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr20:12817000-12818400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr20:12817000-12818400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr20:12817600-12818800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr20:12818200-12818800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr20:12818200-12819000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr20:12818400-12818800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr20:12818400-12818800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr20:12818400-12818800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr20:12818400-12819000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr20:12818400-12819000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr20:12818600-12818800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr20:12819000-12819400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr20:12823000-12823200	Bivalent/Poised TSS	Fetal Brain Male	brain
36	chr20:12827200-12827400	Enhancers	Aorta	Aorta
37	chr20:12828600-12829200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr20:12829200-12829800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr20:12829800-12830600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr20:12830000-12830600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr20:12831800-12832200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr20:12834200-12834400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr20:12840000-12840600	Enhancers	Fetal Brain Female	brain
44	chr20:12841000-12841400	Enhancers	HMEC	breast
45	chr20:12841000-12841800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr20:12841000-12841800	Enhancers	Aorta	Aorta
47	chr20:12853200-12860800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr20:12855600-12855800	Bivalent Enhancer	HepG2	liver
49	chr20:12855800-12856800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr20:12855800-12857000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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