Variant report

Variant	nsv585435
Chromosome Location	chr20:13410638-13582476
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:13439916..13441792-chr20:16089187..16092012,2	K562	blood:
2	chr20:13404058..13404784-chr20:13526885..13527481,2	MCF-7	breast:
3	chr20:13305737..13306312-chr20:13526618..13527354,2	K562	blood:
4	chr20:13439332..13440129-chr20:13526875..13527507,2	K562	blood:
5	chr20:13099205..13100228-chr20:13526624..13527393,3	MCF-7	breast:
6	chr20:13545680..13548329-chr20:13550479..13553310,2	K562	blood:
7	chr20:13556269..13557817-chr20:13617779..13619748,2	MCF-7	breast:
8	chr20:13543205..13545985-chr20:13547825..13549640,2	MCF-7	breast:
9	chr20:13439454..13440147-chr20:13526949..13528062,4	MCF-7	breast:
10	chr20:13543205..13545985-chr20:13547825..13549640,2	MCF-7	breast:
11	chr20:13423475..13426076-chr20:13427990..13429663,2	K562	blood:
12	chr20:13100265..13100795-chr20:13526790..13527749,2	MCF-7	breast:
13	chr20:13404319..13406427-chr20:13433826..13436433,2	K562	blood:
14	chr20:13467756..13469452-chr20:13473202..13474865,2	MCF-7	breast:
15	chr20:13442182..13443887-chr20:13469924..13472728,2	MCF-7	breast:
16	chr20:13305344..13306280-chr20:13527310..13528173,2	MCF-7	breast:
17	chr20:13467756..13469452-chr20:13473202..13474865,2	MCF-7	breast:
18	chr20:13305771..13306616-chr20:13439402..13440096,2	K562	blood:
19	chr20:13454317..13457886-chr20:13459178..13461231,3	MCF-7	breast:
20	chr20:13454317..13457886-chr20:13459178..13461231,3	MCF-7	breast:
21	chr20:13439332..13440129-chr20:13526875..13527507,2	K562	blood:
22	chr20:13439454..13440147-chr20:13526949..13528062,4	MCF-7	breast:
23	chr20:13408378..13410884-chr20:13417652..13421238,3	MCF-7	breast:
24	chr20:13439318..13440167-chr20:13526983..13527752,3	MCF-7	breast:
25	chr20:13526812..13528359-chr20:13536217..13539188,2	K562	blood:
26	chr20:13305433..13306398-chr20:13526637..13527817,4	MCF-7	breast:
27	chr20:13408378..13410884-chr20:13417652..13421238,3	MCF-7	breast:
28	chr20:13439318..13440167-chr20:13526983..13527752,3	MCF-7	breast:
29	chr20:13404043..13405936-chr20:13426667..13428716,2	MCF-7	breast:
30	chr20:13442182..13443887-chr20:13469924..13472728,2	MCF-7	breast:
31	chr20:13545680..13548329-chr20:13550479..13553310,2	K562	blood:
32	chr20:13423475..13426076-chr20:13427990..13429663,2	K562	blood:
33	chr20:13526812..13528359-chr20:13536217..13539188,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000089123	chromatin interactions

Extended variants
information (count: 6179 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:6179 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6105094	chr20:13410638-13410639	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143089801	chr20:13410656-13410657	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375450839	chr20:13410720-13410721	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540695612	chr20:13410722-13410723	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147496018	chr20:13410733-13410734	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574459276	chr20:13410799-13410800	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185862459	chr20:13410810-13410811	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543496044	chr20:13410845-13410846	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190186454	chr20:13410848-13410849	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115432753	chr20:13410887-13410888	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545922645	chr20:13410895-13410896	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546428319	chr20:13410923-13410924	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545162747	chr20:13410959-13410960	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201830695	chr20:13410985-13410986	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6033705	chr20:13411005-13411006	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs6033706	chr20:13411011-13411012	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567638920	chr20:13411013-13411014	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182960767	chr20:13411042-13411043	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75165973	chr20:13411103-13411104	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200800381	chr20:13411127-13411128	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571694702	chr20:13411139-13411140	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6033708	chr20:13411140-13411141	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs73901163	chr20:13411170-13411171	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139657343	chr20:13411173-13411174	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367871513	chr20:13411174-13411175	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565842919	chr20:13411212-13411213	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537651100	chr20:13411240-13411241	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559170081	chr20:13411256-13411257	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs927122	chr20:13411270-13411271	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574373178	chr20:13411276-13411277	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34988299	chr20:13411309-13411310	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528318756	chr20:13411310-13411311	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576499823	chr20:13411314-13411315	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112555819	chr20:13411344-13411345	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs927123	chr20:13411362-13411363	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545197486	chr20:13411462-13411463	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565435990	chr20:13411465-13411466	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543209497	chr20:13411552-13411553	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114217512	chr20:13411573-13411574	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs118017010	chr20:13411579-13411580	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144044186	chr20:13411619-13411620	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559295361	chr20:13411669-13411670	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187484711	chr20:13411678-13411679	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550165214	chr20:13411760-13411761	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192327428	chr20:13411762-13411763	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552161545	chr20:13411766-13411767	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544741164	chr20:13411772-13411773	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201842500	chr20:13411773-13411774	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs151049388	chr20:13411794-13411795	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375909184	chr20:13411795-13411796	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioblastoma multiforme	21138945	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2270 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13364400-13415400	Weak transcription	Right Ventricle	heart
2	chr20:13364600-13416800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr20:13369000-13411200	Strong transcription	Dnd41	blood
4	chr20:13371400-13413600	Weak transcription	Ovary	ovary
5	chr20:13374200-13417200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr20:13374400-13410800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr20:13379200-13463000	Weak transcription	HSMM	muscle
8	chr20:13392600-13421400	Weak transcription	Psoas Muscle	Psoas
9	chr20:13392800-13415000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr20:13393800-13411000	Weak transcription	Pancreas	Pancrea
11	chr20:13393800-13416800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr20:13394000-13415600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr20:13394200-13416800	Weak transcription	Esophagus	oesophagus
14	chr20:13394200-13417200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr20:13395000-13415000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr20:13395400-13411000	Weak transcription	Spleen	Spleen
17	chr20:13395600-13416800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr20:13395600-13477800	Weak transcription	Gastric	stomach
19	chr20:13396000-13415000	Weak transcription	Brain Hippocampus Middle	brain
20	chr20:13396000-13417000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr20:13397400-13421200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr20:13397800-13414400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr20:13397800-13415000	Weak transcription	Adipose Nuclei	Adipose
24	chr20:13398000-13410800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr20:13398000-13411000	Weak transcription	Primary B cells from cord blood	blood
26	chr20:13398200-13410800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr20:13398200-13411000	Weak transcription	Lung	lung
28	chr20:13398200-13412000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr20:13398200-13414600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr20:13398200-13415000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr20:13398200-13415000	Weak transcription	Aorta	Aorta
32	chr20:13398200-13415000	Weak transcription	Fetal Intestine Small	intestine
33	chr20:13398200-13415000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr20:13398200-13415000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr20:13398200-13416800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr20:13398200-13417800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr20:13399600-13410800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr20:13399800-13430800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr20:13400600-13411000	Weak transcription	Placenta	Placenta
40	chr20:13403800-13435000	Weak transcription	HMEC	breast
41	chr20:13404400-13434800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr20:13404400-13434800	Weak transcription	NHEK	skin
43	chr20:13405400-13415000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr20:13405400-13417200	Weak transcription	Small Intestine	intestine
45	chr20:13405800-13410800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr20:13406400-13411000	Weak transcription	Fetal Muscle Leg	muscle
47	chr20:13406400-13411000	Weak transcription	Left Ventricle	heart
48	chr20:13406400-13415200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr20:13406600-13410800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr20:13406600-13411000	Weak transcription	Liver	Liver

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