Variant report

Variant	esv3408127
Chromosome Location	chr1:62729964-62734262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:62732266-62732285	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr1:62732133-62732177	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr1:62731963-62732257	GM19239	blood:	n/a	n/a
4	CTCF	chr1:62732000-62732050	GM12891	blood:	n/a	n/a
5	CTCF	chr1:62732266-62732270	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr1:62732052-62732086	MCF-7	breast:	n/a	n/a
7	CTCF	chr1:62732003-62732096	MCF-7	breast:	n/a	n/a
8	CTCF	chr1:62732173-62732175	MCF-7	breast:	n/a	n/a
9	CTCF	chr1:62731993-62732123	MCF-7	breast:	n/a	n/a
10	CTCF	chr1:62732180-62732194	MCF-7	breast:	n/a	n/a
11	CTCF	chr1:62732178-62732259	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAFK	chr1:62731232-62731342	HepG2	liver:	n/a	chr1:62731291-62731302 chr1:62731291-62731302
13	MYC	chr1:62731995-62731997	MCF-7	breast:	n/a	n/a
14	MYC	chr1:62731969-62732279	MCF-7	breast:	n/a	n/a
15	MYC	chr1:62732175-62732264	H1-hESC	embryonic stem cell:	n/a	n/a
16	MYC	chr1:62731969-62732262	MCF-7	breast:	n/a	n/a
17	MYC	chr1:62732161-62732198	GM12878	blood:	n/a	n/a
18	MYC	chr1:62731929-62732257	MCF-7	breast:	n/a	n/a
19	MYC	chr1:62732003-62732172	MCF-7	breast:	n/a	n/a
20	POLR2A	chr1:62731521-62732409	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:62731977-62732083	Gliobla	brain:	n/a	n/a
22	POLR2A	chr1:62732926-62733043	HepG2	liver:	n/a	n/a
23	POLR2A	chr1:62732157-62732277	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:62731986-62732250	A549	lung:	n/a	n/a
25	POLR2A	chr1:62731875-62732360	MCF-7	breast:	n/a	n/a
26	POLR2A	chr1:62733350-62733485	HepG2	liver:	n/a	n/a
27	POLR2A	chr1:62733317-62733341	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:62731944-62732319	MCF-7	breast:	n/a	n/a

No data

Variant related genes	Relation type
KANK4	TF binding region

Extended variants
information (count: 198 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:198 , 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	rs554722190	chr1:62730071-62730072	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386631755	chr1:62730095-62730096	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192768347	chr1:62730124-62730125	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185536342	chr1:62730175-62730176	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12726922	chr1:62730193-62730194	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575789737	chr1:62730195-62730196	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558415059	chr1:62730245-62730246	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190788109	chr1:62730255-62730256	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113521208	chr1:62730288-62730289	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112688416	chr1:62730291-62730292	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142434508	chr1:62730299-62730300	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2365988	chr1:62730315-62730316	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2365989	chr1:62730318-62730319	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143234555	chr1:62730404-62730405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549395325	chr1:62730416-62730417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3844053	chr1:62730417-62730418	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs575287941	chr1:62730434-62730435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563893889	chr1:62730462-62730463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3850629	chr1:62730496-62730497	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs3895339	chr1:62730589-62730590	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564465996	chr1:62730593-62730594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148309495	chr1:62730599-62730600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528145357	chr1:62730636-62730637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150383496	chr1:62730649-62730650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181491454	chr1:62730733-62730734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568490911	chr1:62730739-62730740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34025079	chr1:62730765-62730766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111945385	chr1:62730782-62730783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548214116	chr1:62730799-62730800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150955147	chr1:62730845-62730846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536889550	chr1:62730888-62730889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558726600	chr1:62730892-62730893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570163287	chr1:62730895-62730896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184342635	chr1:62730903-62730904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200158732	chr1:62730907-62730908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552515670	chr1:62730917-62730918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574131514	chr1:62730966-62730967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542490199	chr1:62731016-62731017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142526649	chr1:62731121-62731122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529094322	chr1:62731129-62731130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575787671	chr1:62731136-62731137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562943494	chr1:62731142-62731143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564673054	chr1:62731182-62731183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3861935	chr1:62731189-62731190	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114922063	chr1:62731193-62731194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562039609	chr1:62731194-62731195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529352440	chr1:62731200-62731201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188432630	chr1:62731275-62731276	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs146002874	chr1:62731297-62731298	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs530918455	chr1:62731306-62731307	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62707600-62732000	Weak transcription	Gastric	stomach
2	chr1:62710800-62731800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:62711600-62730600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:62711600-62737200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:62712000-62731600	Weak transcription	Placenta	Placenta
6	chr1:62721000-62739400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:62728000-62734800	Weak transcription	Fetal Brain Male	brain
8	chr1:62728600-62732000	Weak transcription	Fetal Kidney	kidney
9	chr1:62728800-62730000	Genic enhancers	Fetal Stomach	stomach
10	chr1:62728800-62730400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:62729000-62737600	Weak transcription	Right Atrium	heart
12	chr1:62729200-62731800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:62729200-62731800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:62729200-62732000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:62729400-62731800	Weak transcription	Liver	Liver
16	chr1:62729400-62731800	Weak transcription	Pancreas	Pancrea
17	chr1:62729400-62731800	Weak transcription	Spleen	Spleen
18	chr1:62729400-62732000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:62729400-62732600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:62729400-62734400	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr1:62729600-62730000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:62729600-62730800	Weak transcription	Adipose Nuclei	Adipose
23	chr1:62729600-62731400	Weak transcription	HepG2	liver
24	chr1:62729600-62732000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:62729600-62732000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:62729600-62732000	Weak transcription	Fetal Lung	lung
27	chr1:62729600-62734000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:62729600-62736800	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:62729600-62737400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:62729600-62737400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:62729600-62737600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:62729600-62737800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:62729800-62737400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:62730000-62730400	Weak transcription	Fetal Stomach	stomach
35	chr1:62730000-62731000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr1:62730400-62732000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:62730400-62732000	Strong transcription	Fetal Stomach	stomach
38	chr1:62730600-62732400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:62730800-62734000	Strong transcription	Adipose Nuclei	Adipose
40	chr1:62731000-62731400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:62731400-62734600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr1:62731400-62734800	Strong transcription	HepG2	liver
43	chr1:62731600-62731800	Weak transcription	Esophagus	oesophagus
44	chr1:62731600-62732400	Strong transcription	Placenta	Placenta
45	chr1:62731800-62732000	Enhancers	Spleen	Spleen
46	chr1:62731800-62732200	ZNF genes & repeats	Esophagus	oesophagus
47	chr1:62731800-62732400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:62731800-62732400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:62731800-62732400	Strong transcription	Liver	Liver
50	chr1:62731800-62732800	Strong transcription	Fetal Intestine Small	intestine

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