Variant report

Variant	nsv947433
Chromosome Location	chr1:78310844-78325736
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	CEBPB	chr1:78324427-78324609	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr1:78324500-78324650	GM12873	blood:	n/a	n/a
3	CTCF	chr1:78311760-78311910	HepG2	liver:	n/a	n/a
4	CTCF	chr1:78319140-78319290	NHDF-neo	bronchial:	n/a	n/a
5	FOS	chr1:78323366-78323565	MCF10A-Er-Src	breast:	n/a	n/a
6	FOXM1	chr1:78313303-78313856	GM12878	blood:	n/a	n/a
7	GTF2F1	chr1:78313762-78313766	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAFK	chr1:78323303-78323590	IMR90	lung:	n/a	chr1:78323423-78323438
9	MAFK	chr1:78323377-78323498	HepG2	liver:	n/a	chr1:78323423-78323438
10	MAFK	chr1:78323340-78323464	HepG2	liver:	n/a	chr1:78323423-78323438
11	MAFK	chr1:78318091-78318261	HepG2	liver:	n/a	chr1:78318188-78318199 chr1:78318187-78318201 chr1:78318188-78318199
12	MYC	chr1:78323498-78323579	MCF10A-Er-Src	breast:	n/a	n/a
13	NFIC	chr1:78313417-78313975	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:78323080-78323292	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:78313764-78313799	Hela-S3	cervix:	n/a	n/a
16	RUNX3	chr1:78313268-78313980	GM12878	blood:	n/a	n/a
17	RUNX3	chr1:78313340-78313831	GM12878	blood:	n/a	n/a
18	SETDB1	chr1:78320828-78321217	U2OS	brain:	n/a	n/a
19	SPI1	chr1:78321445-78321587	K562	blood:	n/a	n/a
20	SPI1	chr1:78321464-78321589	K562	blood:	n/a	n/a
21	STAT3	chr1:78321425-78321467	MCF10A-Er-Src	breast:	n/a	n/a
22	ZNF384	chr1:78315700-78315830	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78309843..78313024-chr1:78321312..78324436,3	K562	blood:
2	chr1:78302728..78305826-chr1:78308852..78311825,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEXN-1	chr1:78319040-78319129	NONHSAT004049
2	lnc-NEXN-1	chr1:78319418-78319578	NONHSAT004049

Variant related genes	Relation type
NSRP1P1	TF binding region
HSPE1P25	TF binding region
ENSG00000235613	chromatin interactions

Extended variants
information (count: 494 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532381895	chr1:78310911-78310912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375345921	chr1:78310942-78310943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531768748	chr1:78311025-78311026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74092308	chr1:78311045-78311046	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs147425013	chr1:78311070-78311071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578203926	chr1:78311249-78311250	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545660653	chr1:78311311-78311312	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183038791	chr1:78311467-78311468	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530628749	chr1:78311530-78311531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188417702	chr1:78311590-78311591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560738154	chr1:78311622-78311623	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554602654	chr1:78311633-78311634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148486425	chr1:78311676-78311677	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79482183	chr1:78311724-78311725	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571248702	chr1:78311741-78311742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141615623	chr1:78311743-78311744	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550364125	chr1:78311835-78311836	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs563807069	chr1:78311916-78311917	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78540751	chr1:78311919-78311920	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576533856	chr1:78311965-78311966	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537161735	chr1:78311967-78311968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370252700	chr1:78312027-78312028	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555702350	chr1:78312039-78312040	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531980276	chr1:78312097-78312098	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542264494	chr1:78312103-78312104	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192090734	chr1:78312190-78312191	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535050020	chr1:78312191-78312192	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12748637	chr1:78312265-78312266	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553383879	chr1:78312272-78312273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184442528	chr1:78312350-78312351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7544892	chr1:78312358-78312359	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs376708512	chr1:78312369-78312370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563884177	chr1:78312382-78312383	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566457475	chr1:78312387-78312388	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542380469	chr1:78312389-78312390	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527998654	chr1:78312395-78312396	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561067638	chr1:78312414-78312415	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552177594	chr1:78312415-78312416	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113612573	chr1:78312488-78312489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546620926	chr1:78312512-78312513	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150511101	chr1:78312549-78312550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187713833	chr1:78312574-78312575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550325484	chr1:78312581-78312582	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368169995	chr1:78312589-78312590	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568731326	chr1:78312591-78312592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs367636966	chr1:78312617-78312618	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529926244	chr1:78312665-78312666	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549191906	chr1:78312703-78312704	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567785326	chr1:78312706-78312707	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371847612	chr1:78312727-78312728	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
Papillary thyroid carcinoma	21436994	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
Breast cancer	17603634	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
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
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78252200-78315800	Weak transcription	Esophagus	oesophagus
2	chr1:78275000-78312800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:78280600-78325600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:78281200-78316400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:78282800-78353400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:78284600-78333000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:78285600-78332000	Weak transcription	Spleen	Spleen
8	chr1:78286400-78333200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:78286600-78312800	Weak transcription	Thymus	Thymus
10	chr1:78286600-78328400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:78290200-78334200	Weak transcription	Gastric	stomach
12	chr1:78295200-78318400	Weak transcription	Ovary	ovary
13	chr1:78296800-78329000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:78298400-78340400	Weak transcription	Colonic Mucosa	Colon
15	chr1:78298600-78327000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:78298600-78352400	Weak transcription	Right Ventricle	heart
17	chr1:78298800-78332800	Weak transcription	Fetal Kidney	kidney
18	chr1:78299000-78312000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:78299000-78315400	Weak transcription	Fetal Brain Female	brain
20	chr1:78299200-78314800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:78299400-78340200	Weak transcription	NHEK	skin
22	chr1:78299400-78341200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:78299600-78340200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:78299600-78343000	Weak transcription	K562	blood
25	chr1:78299600-78353800	Weak transcription	Brain Substantia Nigra	brain
26	chr1:78300000-78312800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:78300200-78313200	Weak transcription	Pancreas	Pancrea
28	chr1:78300200-78331600	Weak transcription	Lung	lung
29	chr1:78300200-78332600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:78300800-78313400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:78300800-78320600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:78300800-78328800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:78300800-78342200	Weak transcription	Fetal Brain Male	brain
34	chr1:78301000-78312600	Weak transcription	HUVEC	blood vessel
35	chr1:78301000-78312800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:78301400-78311600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:78301400-78312800	Weak transcription	Adipose Nuclei	Adipose
38	chr1:78301400-78325600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:78301400-78332800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:78301400-78353200	Weak transcription	HSMMtube	muscle
41	chr1:78301800-78342400	Weak transcription	NHLF	lung
42	chr1:78302000-78332000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:78302200-78315800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:78302400-78312600	Weak transcription	Primary T cells from cord blood	blood
45	chr1:78302800-78334200	Weak transcription	HepG2	liver
46	chr1:78303200-78312200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:78303400-78312200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:78303600-78311400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:78303600-78315800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:78303800-78311600	Weak transcription	Colon Smooth Muscle	Colon

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