Variant report

Variant	nsv945930
Chromosome Location	chr1:47961672-47966404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr1:47961310-47962067	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAFK	chr1:47963200-47963378	Hela-S3	cervix:	n/a	n/a
3	MAFK	chr1:47963119-47963378	IMR90	lung:	n/a	n/a
4	MAFK	chr1:47963097-47963431	HepG2	liver:	n/a	n/a
5	MAFK	chr1:47963156-47963355	HepG2	liver:	n/a	n/a
6	MAX	chr1:47961321-47961686	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF1	chr1:47961289-47961675	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47935019..47937863-chr1:47961957..47963491,2	K562	blood:
2	chr1:47958683..47962723-chr1:47971589..47974688,3	K562	blood:
3	chr1:47950842..47954097-chr1:47960084..47963904,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STIL-8	chr1:47963566-47964013	NONHSAT003085

No data

Variant related genes	Relation type
RPL21P24	TF binding region
ENSG00000221346	TF binding region

Extended variants
information (count: 183 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10157710	chr1:47961691-47961692	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563934309	chr1:47961725-47961726	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10158498	chr1:47961734-47961735	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10158499	chr1:47961744-47961745	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568269493	chr1:47961773-47961774	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533352243	chr1:47961777-47961778	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10158500	chr1:47961779-47961780	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547094624	chr1:47961780-47961781	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112668584	chr1:47961823-47961824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539519044	chr1:47961831-47961832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557932704	chr1:47961851-47961852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529144047	chr1:47961852-47961853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188927133	chr1:47961892-47961893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193137938	chr1:47961938-47961939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184356735	chr1:47961940-47961941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544500249	chr1:47961963-47961964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7532110	chr1:47961964-47961965	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144343884	chr1:47961974-47961975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148782402	chr1:47961997-47961998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142398271	chr1:47962118-47962119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151334226	chr1:47962122-47962123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34067271	chr1:47962170-47962171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs397863707	chr1:47962185-47962186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188327966	chr1:47962192-47962193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561984967	chr1:47962231-47962232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191633006	chr1:47962234-47962235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547700263	chr1:47962255-47962256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565677436	chr1:47962354-47962355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114078766	chr1:47962356-47962357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551455374	chr1:47962357-47962358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569788587	chr1:47962409-47962410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376459689	chr1:47962416-47962417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs207460102	chr1:47962443-47962444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369173145	chr1:47962451-47962452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183828147	chr1:47962453-47962454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140704743	chr1:47962586-47962587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567875226	chr1:47962610-47962611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188553281	chr1:47962756-47962757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114730830	chr1:47962762-47962763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1591658	chr1:47962802-47962803	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs545002298	chr1:47962811-47962812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557009614	chr1:47962849-47962850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575351712	chr1:47962853-47962854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574783051	chr1:47962863-47962864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534540633	chr1:47962913-47962914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550245055	chr1:47962914-47962915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397816270	chr1:47962915-47962916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556493369	chr1:47963081-47963082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543144712	chr1:47963105-47963106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181694893	chr1:47963121-47963122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Muscle-eye-brain disease	21572526	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47960400-47961800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
2	chr1:47960800-47962200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:47961400-47961800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr1:47961400-47968800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:47961600-47963000	Enhancers	Liver	Liver
6	chr1:47963000-47963400	Weak transcription	Liver	Liver
7	chr1:47963400-47964800	Enhancers	Liver	Liver
8	chr1:47966200-47966600	Enhancers	Gastric	stomach

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