Variant report

Variant	nsv442483
Chromosome Location	chr20:24418791-24424700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr20:24424019-24424652	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr20:24423614-24425184	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr20:24423760-24423910	GM12869	blood:	n/a	n/a
4	EP300	chr20:24424037-24424633	H1-hESC	embryonic stem cell:	n/a	chr20:24424154-24424168
5	GATA2	chr20:24422310-24422574	SH-SY5Y	brain:	n/a	chr20:24422326-24422333
6	GTF2F1	chr20:24424127-24424279	H1-hESC	embryonic stem cell:	n/a	n/a
7	HDAC2	chr20:24423973-24424423	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAFF	chr20:24420006-24420126	HepG2	liver:	n/a	chr20:24420046-24420064
9	MAFK	chr20:24419921-24420206	HepG2	liver:	n/a	chr20:24420050-24420064
10	MAFK	chr20:24424526-24424754	HepG2	liver:	n/a	chr20:24424629-24424644
11	MAFK	chr20:24419985-24420198	HepG2	liver:	n/a	chr20:24420050-24420064
12	MAFK	chr20:24424434-24424676	H1-hESC	embryonic stem cell:	n/a	chr20:24424629-24424644
13	MAX	chr20:24424008-24424307	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAZ	chr20:24423485-24423521	HepG2	liver:	n/a	n/a
15	MYC	chr20:24423761-24423764	H1-hESC	embryonic stem cell:	n/a	n/a
16	NANOG	chr20:24424072-24424442	H1-hESC	embryonic stem cell:	n/a	chr20:24424167-24424176 chr20:24424368-24424377
17	POLR2A	chr20:24422086-24422369	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr20:24423106-24423235	H1-hESC	embryonic stem cell:	n/a	n/a
19	POU5F1	chr20:24423958-24424439	H1-hESC	embryonic stem cell:	n/a	chr20:24424165-24424179 chr20:24424165-24424179 chr20:24424165-24424179
20	RAD21	chr20:24424081-24424725	H1-hESC	embryonic stem cell:	n/a	chr20:24424197-24424204
21	RAD21	chr20:24424030-24424444	H1-hESC	embryonic stem cell:	n/a	chr20:24424197-24424204
22	RAD21	chr20:24424026-24424461	H1-hESC	embryonic stem cell:	n/a	chr20:24424197-24424204
23	TCF12	chr20:24424082-24424429	H1-hESC	embryonic stem cell:	n/a	n/a
24	TCF12	chr20:24424095-24424459	H1-hESC	embryonic stem cell:	n/a	n/a
25	USF1	chr20:24420486-24420645	HepG2	liver:	n/a	chr20:24420584-24420595
26	USF2	chr20:24423669-24423805	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF143	chr20:24424010-24424418	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZNF143	chr20:24423601-24423783	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:24420874..24424389-chr20:24442088..24445319,3	MCF-7	breast:

Variant related genes	Relation type
GAPDHP53	TF binding region

Extended variants
information (count: 251 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555489416	chr20:24418798-24418799	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73904219	chr20:24418829-24418830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs116366814	chr20:24418833-24418834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557900310	chr20:24418852-24418853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6036791	chr20:24418854-24418855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs59099280	chr20:24418873-24418874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557619479	chr20:24418878-24418879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186602483	chr20:24418887-24418888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138959915	chr20:24418935-24418936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149002831	chr20:24418946-24418947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114739739	chr20:24418961-24418962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191048584	chr20:24418973-24418974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565044039	chr20:24418992-24418993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530708386	chr20:24418993-24418994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143048440	chr20:24419108-24419109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73339961	chr20:24419110-24419111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138505314	chr20:24419159-24419160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77989598	chr20:24419174-24419175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6114727	chr20:24419185-24419186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534210647	chr20:24419191-24419192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565853072	chr20:24419237-24419238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7266811	chr20:24419241-24419242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs141649355	chr20:24419265-24419266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6106879	chr20:24419266-24419267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146202733	chr20:24419285-24419286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534989697	chr20:24419300-24419301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537640869	chr20:24419338-24419339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557413278	chr20:24419427-24419428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574225113	chr20:24419484-24419485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536260163	chr20:24419565-24419566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74173649	chr20:24419583-24419584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs373987484	chr20:24419603-24419604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55896620	chr20:24419607-24419608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564975515	chr20:24419639-24419640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73339963	chr20:24419692-24419693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544349179	chr20:24419754-24419755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182941648	chr20:24419786-24419787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs8119456	chr20:24419792-24419793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs200179691	chr20:24419797-24419798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78847865	chr20:24419834-24419835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559352346	chr20:24419854-24419855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186753771	chr20:24419872-24419873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73904220	chr20:24419876-24419877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs571709819	chr20:24419880-24419881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6106880	chr20:24419930-24419931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537249789	chr20:24419942-24419943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138049723	chr20:24420003-24420004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545968562	chr20:24420010-24420011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73904221	chr20:24420072-24420073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs73904222	chr20:24420122-24420123	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24412400-24423400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:24412600-24423600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:24416000-24419200	Enhancers	Fetal Brain Male	brain
4	chr20:24416400-24419200	Enhancers	Fetal Intestine Large	intestine
5	chr20:24416400-24421600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr20:24416600-24419000	Enhancers	Fetal Brain Female	brain
7	chr20:24416800-24419200	Enhancers	Fetal Intestine Small	intestine
8	chr20:24417000-24419200	Enhancers	Fetal Kidney	kidney
9	chr20:24417200-24421800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr20:24417400-24419000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr20:24417400-24421800	Weak transcription	Brain Hippocampus Middle	brain
12	chr20:24417600-24418800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr20:24417600-24419200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr20:24418000-24420400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr20:24418400-24419200	Enhancers	Colon Smooth Muscle	Colon
16	chr20:24418600-24418800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr20:24418600-24418800	Enhancers	Brain Substantia Nigra	brain
18	chr20:24418600-24419000	Enhancers	Rectal Smooth Muscle	rectum
19	chr20:24418600-24420000	Weak transcription	Fetal Muscle Leg	muscle
20	chr20:24418800-24419000	Enhancers	Small Intestine	intestine
21	chr20:24418800-24420600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr20:24419000-24422200	Weak transcription	Fetal Brain Female	brain
23	chr20:24420000-24421200	Enhancers	Fetal Muscle Leg	muscle
24	chr20:24420200-24420600	Enhancers	NHEK	skin
25	chr20:24420400-24421200	Enhancers	Fetal Muscle Trunk	muscle
26	chr20:24420600-24420800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr20:24421000-24422800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr20:24421200-24422200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr20:24421600-24423000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr20:24421800-24423000	Enhancers	Brain Cingulate Gyrus	brain
31	chr20:24421800-24423000	Enhancers	Brain Hippocampus Middle	brain
32	chr20:24422000-24423000	Enhancers	Brain Anterior Caudate	brain
33	chr20:24422000-24423000	Enhancers	Brain Substantia Nigra	brain
34	chr20:24422200-24422400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr20:24422200-24422800	Enhancers	Brain Angular Gyrus	brain
36	chr20:24422200-24423000	Enhancers	Fetal Brain Female	brain
37	chr20:24422400-24422600	Enhancers	Fetal Muscle Trunk	muscle
38	chr20:24422400-24422600	Enhancers	Placenta	Placenta
39	chr20:24422400-24422800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr20:24422800-24423000	Weak transcription	Spleen	Spleen
41	chr20:24422800-24426000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr20:24422800-24426200	Weak transcription	Brain Angular Gyrus	brain
43	chr20:24422800-24426600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr20:24422800-24426600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr20:24422800-24426600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr20:24422800-24426800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr20:24423000-24423200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr20:24423000-24426200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr20:24423000-24426400	Weak transcription	Brain Anterior Caudate	brain
50	chr20:24423000-24426400	Weak transcription	Brain Cingulate Gyrus	brain

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