Variant report

Variant	nsv527770
Chromosome Location	chr2:85949396-85962551
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	ATF2	chr2:85955871-85956372	GM12878	blood:	n/a	n/a
2	BHLHE40	chr2:85956074-85956435	GM12878	blood:	n/a	n/a
3	BHLHE40	chr2:85956074-85956377	K562	blood:	n/a	n/a
4	BHLHE40	chr2:85958810-85958992	GM12878	blood:	n/a	n/a
5	BRCA1	chr2:85956154-85956400	HepG2	liver:	n/a	n/a
6	BRCA1	chr2:85956029-85956303	GM12878	blood:	n/a	n/a
7	BRCA1	chr2:85956100-85956413	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr2:85958000-85958285	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr2:85949834-85949899	K562	blood:	n/a	n/a
10	CEBPB	chr2:85956076-85956737	A549	lung:	n/a	chr2:85956442-85956455
11	CEBPB	chr2:85956163-85956563	Hela-S3	cervix:	n/a	chr2:85956442-85956455
12	CEBPB	chr2:85951327-85951331	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr2:85951159-85951462	IMR90	lung:	n/a	chr2:85951299-85951310
14	CEBPB	chr2:85956239-85956555	IMR90	lung:	n/a	chr2:85956442-85956455
15	CEBPB	chr2:85951230-85951345	HepG2	liver:	n/a	chr2:85951299-85951310
16	CEBPB	chr2:85951160-85951456	HepG2	liver:	n/a	chr2:85951299-85951310
17	CEBPB	chr2:85956235-85956610	A549	lung:	n/a	chr2:85956442-85956455
18	CEBPB	chr2:85951229-85951384	A549	lung:	n/a	chr2:85951299-85951310
19	CHD2	chr2:85956048-85956402	GM12878	blood:	n/a	n/a
20	CHD2	chr2:85956195-85956356	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr2:85956208-85956216	K562	blood:	n/a	n/a
22	CHD2	chr2:85956247-85956275	HepG2	liver:	n/a	n/a
23	CREB1	chr2:85956018-85956423	A549	lung:	n/a	n/a
24	CTCF	chr2:85955220-85955370	SAEC	small airway:	n/a	n/a
25	CTCF	chr2:85956160-85956310	GM12867	blood:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
26	CTCF	chr2:85956160-85956310	GM12864	blood:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
27	CTCF	chr2:85950420-85950570	GM12873	blood:	n/a	n/a
28	CTCF	chr2:85956101-85956436	Gliobla	brain:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
29	CTCF	chr2:85956007-85956420	H1-hESC	embryonic stem cell:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
30	CTCF	chr2:85956180-85956330	GM12865	blood:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
31	CTCF	chr2:85956180-85956330	GM12867	blood:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
32	CTCF	chr2:85956085-85956445	T-47D	breast:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
33	CTCF	chr2:85956180-85956330	MCF-7	breast:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
34	CTCF	chr2:85956180-85956330	HEK293	kidney:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
35	CTCF	chr2:85956200-85956350	AG09309	skin:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
36	CTCF	chr2:85955967-85956566	MCF-7	breast:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
37	CTCF	chr2:85957951-85958014	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:85956220-85956370	HCT-116	colon:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
39	CTCF	chr2:85956260-85956410	A549	lung:	n/a	chr2:85956260-85956273
40	CTCF	chr2:85956200-85956350	HBMEC	blood vessel:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
41	CTCF	chr2:85951889-85951894	Medullo	brain:	n/a	n/a
42	CTCF	chr2:85955782-85956632	HCT-116	colon:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
43	CTCF	chr2:85956180-85956330	GM12873	blood:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
44	CTCF	chr2:85956134-85956395	H1-hESC	embryonic stem cell:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
45	CTCF	chr2:85956139-85956394	MCF-7	breast:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
46	CTCF	chr2:85956099-85956443	GM12892	blood:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
47	CTCF	chr2:85956017-85956538	H1-hESC	embryonic stem cell:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
48	CTCF	chr2:85956180-85956330	NHEK	skin:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
49	CTCF	chr2:85956180-85956330	HCM	heart:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280
50	CTCF	chr2:85956180-85956330	GM12870	blood:	n/a	chr2:85956258-85956274 chr2:85956260-85956273 chr2:85956257-85956275 chr2:85956259-85956280

No.	Distal block	Cell Line	Cell type
1	chr2:85905984..85906919-chr2:85955820..85956730,3	MCF-7	breast:
2	chr2:85955595..85957858-chr2:85959613..85962219,2	K562	blood:
3	chr2:85956902..85958870-chr2:85969528..85972246,2	K562	blood:
4	chr2:85955776..85956849-chr2:86040830..86043011,18	K562	blood:
5	chr2:85773887..85776884-chr2:85959651..85962440,2	K562	blood:
6	chr2:85955821..85957008-chr2:86041027..86041954,12	MCF-7	breast:
7	chr2:85957540..85958262-chr2:86182061..86182634,2	MCF-7	breast:
8	chr2:85956213..85956765-chr2:86031797..86032400,2	MCF-7	breast:
9	chr2:85955630..85956514-chr2:86031809..86032395,5	MCF-7	breast:
10	chr2:85937591..85939092-chr2:85951600..85953436,2	K562	blood:
11	chr2:85958283..85960211-chr2:85976983..85978869,2	MCF-7	breast:
12	chr2:85956028..85956647-chr2:86305693..86306484,2	MCF-7	breast:
13	chr2:85957921..85961748-chr2:85964446..85969197,5	MCF-7	breast:
14	chr2:85955751..85956738-chr2:86031423..86032285,5	K562	blood:
15	chr2:85958101..85959968-chr2:85968297..85971018,3	MCF-7	breast:
16	chr2:85956013..85956682-chr2:86024671..86025569,3	MCF-7	breast:
17	chr2:85961835..85963960-chr2:85967873..85971227,3	MCF-7	breast:
18	chr2:85955246..85956833-chr2:86040551..86042336,26	MCF-7	breast:
19	chr2:85944805..85946423-chr2:85948836..85951563,2	K562	blood:
20	chr2:85955595..85958581-chr2:85959613..85963230,3	K562	blood:
21	chr2:85940849..85943102-chr2:85958602..85960429,2	K562	blood:
22	chr2:85956198..85956852-chr2:86306801..86307694,2	MCF-7	breast:
23	chr2:85960025..85963728-chr2:85966554..85970726,5	MCF-7	breast:
24	chr2:85962517..85964339-chr2:85996899..85999764,2	MCF-7	breast:
25	chr2:85934016..85934982-chr2:85955990..85956757,2	K562	blood:
26	chr2:85955595..85958581-chr2:85959613..85963230,3	K562	blood:
27	chr2:85944996..85948043-chr2:85949115..85952317,3	MCF-7	breast:
28	chr2:85957299..85959795-chr2:85977903..85980031,2	MCF-7	breast:
29	chr2:85955784..85956751-chr2:85977453..85978247,3	MCF-7	breast:
30	chr2:85959891..85961430-chr2:85975278..85976868,2	MCF-7	breast:
31	chr2:85955595..85957858-chr2:85959613..85962219,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SFTPB-1	chr2:85958823-85958843	XLOC_002191

Variant related genes	Relation type
RNU1-38P	TF binding region
ENSG00000168874	chromatin interactions
ENSG00000229498	chromatin interactions

Extended variants
information (count: 499 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:499 , 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	rs11126997	chr2:85949396-85949397	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576782146	chr2:85949418-85949419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563915629	chr2:85949467-85949468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544192678	chr2:85949494-85949495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190226781	chr2:85949548-85949549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146028134	chr2:85949555-85949556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181729772	chr2:85949558-85949559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560558711	chr2:85949610-85949611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187213527	chr2:85949638-85949639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552616955	chr2:85949664-85949665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554157175	chr2:85949676-85949677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571091892	chr2:85949695-85949696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537860916	chr2:85949719-85949720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367946956	chr2:85949722-85949723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79842360	chr2:85949727-85949728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs59089383	chr2:85949743-85949744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568114182	chr2:85949780-85949781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535595461	chr2:85949794-85949795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553832777	chr2:85949835-85949836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568194418	chr2:85949841-85949842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566575896	chr2:85949892-85949893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533957383	chr2:85949906-85949907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191084016	chr2:85949921-85949922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7583990	chr2:85949955-85949956	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544229005	chr2:85949993-85949994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7571652	chr2:85950033-85950034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs565937372	chr2:85950077-85950078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7560286	chr2:85950094-85950095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180754141	chr2:85950106-85950107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375649365	chr2:85950134-85950135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527895295	chr2:85950191-85950192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13014588	chr2:85950232-85950233	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs563126328	chr2:85950254-85950255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373541737	chr2:85950295-85950296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4611642	chr2:85950355-85950356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558075739	chr2:85950380-85950381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564631244	chr2:85950412-85950413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531930562	chr2:85950506-85950507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185218215	chr2:85950565-85950566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190016968	chr2:85950587-85950588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529225799	chr2:85950614-85950615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372531646	chr2:85950633-85950634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575382057	chr2:85950639-85950640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6738026	chr2:85950659-85950660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547593423	chr2:85950672-85950673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375823472	chr2:85950680-85950681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533756870	chr2:85950687-85950688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369014991	chr2:85950804-85950805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10178646	chr2:85950821-85950822	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570550332	chr2:85950888-85950889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85941200-85967400	Weak transcription	Esophagus	oesophagus
2	chr2:85943800-85951800	Weak transcription	Lung	lung
3	chr2:85944000-85951600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:85945200-85951000	Weak transcription	Placenta	Placenta
5	chr2:85945600-85950800	Weak transcription	NHDF-Ad	bronchial
6	chr2:85946800-85951200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:85947200-85950000	Weak transcription	Adipose Nuclei	Adipose
8	chr2:85947200-85951800	Weak transcription	Right Atrium	heart
9	chr2:85947200-85952200	Weak transcription	Ovary	ovary
10	chr2:85947600-85950200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:85947600-85950400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:85947600-85951800	Weak transcription	Left Ventricle	heart
13	chr2:85947600-85952000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:85947600-85956600	Weak transcription	Right Ventricle	heart
15	chr2:85947600-85957000	Weak transcription	Psoas Muscle	Psoas
16	chr2:85948800-85949800	Enhancers	Fetal Muscle Leg	muscle
17	chr2:85950000-85952800	Enhancers	Adipose Nuclei	Adipose
18	chr2:85950200-85950400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:85950200-85953000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:85950400-85950600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:85950400-85952600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:85950400-85953000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr2:85950400-85953600	Enhancers	Liver	Liver
24	chr2:85950600-85951800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:85950600-85953000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:85950800-85951000	Enhancers	Colonic Mucosa	Colon
27	chr2:85950800-85951800	Enhancers	HepG2	liver
28	chr2:85950800-85952600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:85950800-85952600	Enhancers	NHDF-Ad	bronchial
30	chr2:85951000-85952200	Enhancers	Placenta	Placenta
31	chr2:85951000-85956400	Weak transcription	Colonic Mucosa	Colon
32	chr2:85951000-85959600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:85951200-85951600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:85951200-85952000	Enhancers	Osteobl	bone
35	chr2:85951200-85952600	Enhancers	Fetal Muscle Leg	muscle
36	chr2:85951200-85953400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr2:85951400-85952200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:85951400-85952400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:85951600-85951800	Enhancers	Fetal Kidney	kidney
40	chr2:85951600-85952200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr2:85951600-85952200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:85951600-85953000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr2:85951800-85952400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:85951800-85952400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:85951800-85952400	Weak transcription	Fetal Kidney	kidney
46	chr2:85951800-85952400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr2:85951800-85952400	Enhancers	Left Ventricle	heart
48	chr2:85951800-85952400	Enhancers	Lung	lung
49	chr2:85951800-85952400	Enhancers	Right Atrium	heart
50	chr2:85951800-85952400	Enhancers	Spleen	Spleen

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