Variant report

Variant	nsv979031
Chromosome Location	chr2:85709070-85727517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:493)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:85727052-85727596	K562	blood:	n/a	n/a
2	ARID3A	chr2:85726223-85726632	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:85723860-85723915	K562	blood:	n/a	n/a
4	ARID3A	chr2:85725393-85725736	K562	blood:	n/a	n/a
5	ARID3A	chr2:85726185-85726597	K562	blood:	n/a	n/a
6	ATF1	chr2:85726261-85726542	K562	blood:	n/a	n/a
7	ATF1	chr2:85727141-85727628	K562	blood:	n/a	n/a
8	ATF3	chr2:85726087-85726678	A549	lung:	n/a	n/a
9	ATF3	chr2:85712935-85713308	K562	blood:	n/a	n/a
10	ATF3	chr2:85726131-85726584	K562	blood:	n/a	n/a
11	ATF3	chr2:85726078-85726745	A549	lung:	n/a	n/a
12	ATF3	chr2:85726246-85726464	K562	blood:	n/a	n/a
13	BATF	chr2:85716603-85716921	GM12878	blood:	n/a	n/a
14	BCL11A	chr2:85716756-85716980	GM12878	blood:	n/a	n/a
15	BCL3	chr2:85726097-85726663	A549	lung:	n/a	n/a
16	BCLAF1	chr2:85727117-85727687	K562	blood:	n/a	n/a
17	BHLHE40	chr2:85726331-85726448	HepG2	liver:	n/a	n/a
18	BHLHE40	chr2:85727219-85727644	K562	blood:	n/a	n/a
19	BHLHE40	chr2:85716704-85716966	HepG2	liver:	n/a	n/a
20	BHLHE40	chr2:85726378-85726681	A549	lung:	n/a	n/a
21	BHLHE40	chr2:85726310-85726624	K562	blood:	n/a	n/a
22	BRCA1	chr2:85726258-85726575	Hela-S3	cervix:	n/a	n/a
23	CBX3	chr2:85725919-85726915	HCT-116	colon:	n/a	n/a
24	CBX3	chr2:85716079-85716341	K562	blood:	n/a	n/a
25	CBX3	chr2:85727095-85727661	K562	blood:	n/a	n/a
26	CBX3	chr2:85727054-85727717	K562	blood:	n/a	n/a
27	CBX3	chr2:85725937-85726837	HCT-116	colon:	n/a	n/a
28	CBX3	chr2:85716088-85716325	K562	blood:	n/a	n/a
29	CBX3	chr2:85725969-85726604	K562	blood:	n/a	n/a
30	CCNT2	chr2:85727143-85727635	K562	blood:	n/a	chr2:85727402-85727422
31	CEBPB	chr2:85712971-85713262	A549	lung:	n/a	chr2:85713118-85713129
32	CEBPB	chr2:85712965-85713288	K562	blood:	n/a	chr2:85713118-85713129
33	CEBPB	chr2:85712992-85713188	K562	blood:	n/a	chr2:85713118-85713129
34	CEBPB	chr2:85726123-85726718	A549	lung:	n/a	n/a
35	CEBPB	chr2:85726169-85726373	HepG2	liver:	n/a	n/a
36	CEBPB	chr2:85726079-85726559	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr2:85712908-85713321	A549	lung:	n/a	chr2:85713118-85713129
38	CEBPB	chr2:85725926-85726544	K562	blood:	n/a	n/a
39	CEBPB	chr2:85725919-85726844	HCT-116	colon:	n/a	n/a
40	CEBPB	chr2:85726101-85726613	IMR90	lung:	n/a	n/a
41	CEBPB	chr2:85725838-85726857	HCT-116	colon:	n/a	n/a
42	CEBPB	chr2:85712897-85713265	K562	blood:	n/a	chr2:85713118-85713129
43	CEBPB	chr2:85725988-85726683	ECC-1	luminal epithelium:	n/a	n/a
44	CEBPB	chr2:85726088-85726631	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr2:85727316-85727597	K562	blood:	n/a	chr2:85727378-85727390
46	CEBPB	chr2:85725755-85725883	K562	blood:	n/a	n/a
47	CEBPB	chr2:85726143-85726508	K562	blood:	n/a	n/a
48	CEBPB	chr2:85723842-85723860	K562	blood:	n/a	n/a
49	CEBPB	chr2:85712966-85713283	IMR90	lung:	n/a	chr2:85713118-85713129
50	CEBPB	chr2:85712974-85713291	HepG2	liver:	n/a	chr2:85713118-85713129

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85722294..85724723-chr2:85726333..85730393,4	K562	blood:
2	chr2:85716297..85718837-chr2:85769443..85771009,2	K562	blood:
3	chr2:85726132..85728834-chr2:85772359..85774217,2	K562	blood:
4	chr2:85662410..85665210-chr2:85723561..85725640,2	K562	blood:
5	chr2:85718590..85720925-chr2:85722046..85724541,2	K562	blood:
6	chr2:85723222..85725755-chr2:85726962..85728485,2	MCF-7	breast:
7	chr2:85705123..85709274-chr2:85772334..85776338,4	K562	blood:
8	chr2:85724232..85726393-chr2:85765859..85767677,2	MCF-7	breast:
9	chr2:85720144..85722154-chr2:85725274..85727567,3	K562	blood:
10	chr2:85721306..85734455-chr2:85761299..85769531,43	K562	blood:
11	chr2:85722294..85724723-chr2:85726333..85730393,4	K562	blood:
12	chr2:85727108..85732235-chr2:85765066..85768595,7	MCF-7	breast:
13	chr2:85722180..85736122-chr2:85762661..85770266,54	K562	blood:
14	chr2:85726565..85729187-chr2:85739922..85742160,2	K562	blood:
15	chr2:85720742..85723987-chr2:85765116..85767880,3	MCF-7	breast:
16	chr2:85724612..85727144-chr2:85772474..85775148,2	K562	blood:
17	chr2:85719370..85721656-chr2:85738688..85740895,2	MCF-7	breast:
18	chr2:85720144..85722154-chr2:85725274..85727567,3	K562	blood:
19	chr2:85723222..85725755-chr2:85726962..85728485,2	MCF-7	breast:
20	chr2:85647597..85649656-chr2:85727271..85730259,3	K562	blood:
21	chr2:85645586..85649656-chr2:85727424..85730259,4	K562	blood:
22	chr2:85635544..85709381-chr2:85757395..85791508,633	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GGCX-6	chr2:85718053-85718903	NONHSAT072009

No data

Variant related genes	Relation type
ENSG00000229648	TF binding region
ENSG00000152292	chromatin interactions
ENSG00000168906	chromatin interactions
ENSG00000266577	chromatin interactions
ENSG00000115486	chromatin interactions
ENSG00000229648	chromatin interactions
ENSG00000118640	chromatin interactions

Extended variants
information (count: 731 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:731 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181875993	chr2:85709105-85709106	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs553859246	chr2:85709122-85709123	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs113787783	chr2:85709123-85709124	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs549779214	chr2:85709129-85709130	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs369021524	chr2:85709134-85709135	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs541011721	chr2:85709145-85709146	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs545976534	chr2:85709262-85709263	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs112589349	chr2:85709287-85709288	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs192135667	chr2:85709348-85709349	Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs544014288	chr2:85709385-85709386	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562411284	chr2:85709411-85709412	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200810149	chr2:85709422-85709423	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181896002	chr2:85709483-85709484	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184958750	chr2:85709498-85709499	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10208670	chr2:85709499-85709500	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527329176	chr2:85709510-85709511	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12478360	chr2:85709537-85709538	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375150654	chr2:85709541-85709542	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11126994	chr2:85709551-85709552	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs112976183	chr2:85709559-85709560	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570573545	chr2:85709566-85709567	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189763550	chr2:85709573-85709574	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149553970	chr2:85709575-85709576	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147248475	chr2:85709592-85709593	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531906945	chr2:85709711-85709712	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs535763852	chr2:85709716-85709717	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs182307350	chr2:85709720-85709721	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs368139615	chr2:85709721-85709722	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs550405740	chr2:85709732-85709733	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs140564462	chr2:85709737-85709738	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs568722097	chr2:85709743-85709744	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs557792430	chr2:85709758-85709759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs565904906	chr2:85709773-85709774	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs576147491	chr2:85709784-85709785	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs529584292	chr2:85709813-85709814	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs188169605	chr2:85709830-85709831	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs372381455	chr2:85709841-85709842	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs28805618	chr2:85709894-85709895	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541758331	chr2:85709916-85709917	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs560401930	chr2:85709974-85709975	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs527255142	chr2:85709975-85709976	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552217810	chr2:85709976-85709977	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs75531114	chr2:85710007-85710008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191367359	chr2:85710031-85710032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549937302	chr2:85710032-85710033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568556837	chr2:85710046-85710047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536048811	chr2:85710047-85710048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547733090	chr2:85710059-85710060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566377778	chr2:85710060-85710061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs58635660	chr2:85710064-85710065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	17229543	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85703600-85713000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:85704000-85713200	Weak transcription	A549	lung
3	chr2:85705800-85717400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:85706200-85718200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:85708400-85709600	Enhancers	Esophagus	oesophagus
6	chr2:85708600-85709400	Active TSS	Liver	Liver
7	chr2:85709400-85710000	Flanking Active TSS	Liver	Liver
8	chr2:85709600-85710000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:85709800-85710200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:85710000-85710200	Enhancers	Liver	Liver
11	chr2:85712800-85713400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:85712800-85713800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:85713000-85713400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:85713000-85713400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr2:85713000-85713600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:85713000-85713600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:85713200-85713600	Enhancers	A549	lung
18	chr2:85713400-85724000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:85713600-85718000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:85713600-85718200	Weak transcription	A549	lung
21	chr2:85713600-85718400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:85717400-85717600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:85717600-85726000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:85718000-85718800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr2:85718200-85718600	Enhancers	A549	lung
26	chr2:85718200-85718800	Enhancers	Esophagus	oesophagus
27	chr2:85718400-85719000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:85718600-85725400	Weak transcription	A549	lung
29	chr2:85718800-85725000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:85720800-85721200	Enhancers	HepG2	liver
31	chr2:85721200-85723400	Weak transcription	HepG2	liver
32	chr2:85722000-85722200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:85722200-85722600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:85722200-85727400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:85722400-85723000	Enhancers	K562	blood
36	chr2:85722600-85725000	Enhancers	Fetal Intestine Large	intestine
37	chr2:85722600-85727400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:85722800-85724800	Enhancers	Fetal Intestine Small	intestine
39	chr2:85723000-85724400	Flanking Active TSS	K562	blood
40	chr2:85723400-85723600	Enhancers	Left Ventricle	heart
41	chr2:85723400-85724000	Enhancers	HepG2	liver
42	chr2:85723600-85723800	Enhancers	Small Intestine	intestine
43	chr2:85723600-85726000	Weak transcription	Left Ventricle	heart
44	chr2:85723800-85730600	Weak transcription	Small Intestine	intestine
45	chr2:85724000-85725600	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr2:85724000-85726000	Weak transcription	HepG2	liver
47	chr2:85724400-85725000	Enhancers	K562	blood
48	chr2:85724800-85725800	Weak transcription	Fetal Intestine Small	intestine
49	chr2:85725000-85725400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr2:85725000-85726000	Weak transcription	Fetal Intestine Large	intestine

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