Variant report

Variant	nsv3071
Chromosome Location	chr2:187208040-187252682
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	ARID3A	chr2:187247288-187248149	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:187243865-187244178	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:187243853-187244046	K562	blood:	n/a	n/a
4	ATF1	chr2:187243808-187244266	K562	blood:	n/a	n/a
5	ATF1	chr2:187214340-187214528	K562	blood:	n/a	n/a
6	BATF	chr2:187212171-187212425	GM12878	blood:	n/a	chr2:187212330-187212340 chr2:187212329-187212340
7	BHLHE40	chr2:187247572-187248022	HepG2	liver:	n/a	n/a
8	CBX3	chr2:187214226-187214609	HCT-116	colon:	n/a	n/a
9	CEBPB	chr2:187246430-187246566	K562	blood:	n/a	n/a
10	CEBPB	chr2:187243840-187244174	K562	blood:	n/a	n/a
11	CEBPB	chr2:187240590-187240862	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:187230343-187230565	HepG2	liver:	n/a	chr2:187230421-187230432 chr2:187230419-187230430 chr2:187230419-187230432 chr2:187230421-187230432 chr2:187230419-187230432
13	CEBPB	chr2:187212025-187212177	A549	lung:	n/a	n/a
14	CEBPB	chr2:187247775-187248060	MCF-7	breast:	n/a	n/a
15	CEBPB	chr2:187211925-187212181	IMR90	lung:	n/a	n/a
16	CEBPB	chr2:187247731-187248003	HepG2	liver:	n/a	n/a
17	CEBPB	chr2:187247630-187248076	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:187243860-187244174	HepG2	liver:	n/a	n/a
19	CEBPB	chr2:187243854-187244196	K562	blood:	n/a	n/a
20	CEBPB	chr2:187230331-187230525	A549	lung:	n/a	chr2:187230421-187230432 chr2:187230419-187230430 chr2:187230419-187230432 chr2:187230421-187230432 chr2:187230419-187230432
21	CEBPB	chr2:187243882-187244137	K562	blood:	n/a	n/a
22	CEBPB	chr2:187247715-187248094	HepG2	liver:	n/a	n/a
23	CEBPB	chr2:187243884-187244066	HepG2	liver:	n/a	n/a
24	CEBPB	chr2:187211903-187212201	HepG2	liver:	n/a	n/a
25	CHD2	chr2:187247591-187247997	HepG2	liver:	n/a	n/a
26	CTCF	chr2:187234080-187234230	GM12869	blood:	n/a	n/a
27	E2F4	chr2:187213000-187213545	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr2:187214344-187214553	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr2:187238223-187238356	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr2:187243791-187244030	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr2:187242678-187242919	MCF10A-Er-Src	breast:	n/a	n/a
32	EBF1	chr2:187244667-187244669	GM12878	blood:	n/a	n/a
33	EBF1	chr2:187212295-187212503	GM12878	blood:	n/a	n/a
34	EP300	chr2:187214030-187214838	SK-N-SH	brain:	n/a	chr2:187214144-187214154 chr2:187214664-187214678
35	EP300	chr2:187213978-187214631	SK-N-SH_RA	brain:	n/a	chr2:187214144-187214154
36	EP300	chr2:187247591-187248217	HepG2	liver:	n/a	n/a
37	EP300	chr2:187211986-187212807	SK-N-SH_RA	brain:	n/a	chr2:187212328-187212337 chr2:187212140-187212147 chr2:187212329-187212338
38	EP300	chr2:187212064-187212785	SK-N-SH_RA	brain:	n/a	chr2:187212328-187212337 chr2:187212140-187212147 chr2:187212329-187212338
39	EP300	chr2:187243676-187244263	HepG2	liver:	n/a	n/a
40	EP300	chr2:187210363-187214827	SK-N-SH	brain:	n/a	chr2:187212328-187212337 chr2:187213006-187213020 chr2:187214144-187214154 chr2:187214664-187214678 chr2:187212140-187212147 chr2:187212329-187212338 chr2:187212930-187212944
41	EP300	chr2:187243768-187244305	HepG2	liver:	n/a	n/a
42	EP300	chr2:187210899-187211260	SK-N-SH_RA	brain:	n/a	n/a
43	EP300	chr2:187243843-187244170	K562	blood:	n/a	n/a
44	EP300	chr2:187210906-187211304	SK-N-SH_RA	brain:	n/a	n/a
45	EP300	chr2:187214108-187214630	SK-N-SH_RA	brain:	n/a	chr2:187214144-187214154
46	EP300	chr2:187214298-187214640	Hela-S3	cervix:	n/a	n/a
47	EP300	chr2:187247636-187248175	HepG2	liver:	n/a	n/a
48	EP300	chr2:187247483-187248116	HepG2	liver:	n/a	n/a
49	EP300	chr2:187247625-187248022	A549	lung:	n/a	n/a
50	EP300	chr2:187212035-187212855	SK-N-SH	brain:	n/a	chr2:187212328-187212337 chr2:187212140-187212147 chr2:187212329-187212338

No.	Distal block	Cell Line	Cell type
1	chr2:187237291..187240227-chr2:187242053..187243654,2	MCF-7	breast:
2	chr2:187219578..187221078-chr21:16109986..16111626,2	K562	blood:
3	chr2:187247609..187249365-chr2:187349297..187352052,2	K562	blood:
4	chr2:187241723..187244147-chr2:187246787..187249454,2	MCF-7	breast:
5	chr2:187241723..187244147-chr2:187246787..187249454,2	MCF-7	breast:
6	chr2:187237291..187240227-chr2:187242053..187243654,2	MCF-7	breast:
7	chr2:187250943..187253754-chr2:187257161..187259354,2	MCF-7	breast:
8	chr2:187224692..187226371-chr2:187226944..187229752,2	K562	blood:
9	chr2:187168079..187170910-chr2:187226806..187228664,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-3	chr2:187249030-187249978	NONHSAT075981
2	lnc-ZSWIM2-3	chr2:187228431-187229856	NONHSAT075991
3	lnc-ZSWIM2-2	chr2:187219297-187221500	NONHSAT075989
4	lnc-ZSWIM2-3	chr2:187229171-187229856	NONHSAT075981
5	lnc-ZSWIM2-2	chr2:187219299-187221500	ENSG00000259915.1
6	lnc-ZC3H15-4	chr2:187222394-187224044	NONHSAT075990

Variant related genes	Relation type
MED28P3	TF binding region
ENSG00000259915	TF binding region
ENSG00000227692	chromatin interactions
ENSG00000065548	chromatin interactions

Extended variants
information (count: 1510 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1510 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190782581	chr2:187208091-187208092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541612003	chr2:187208096-187208097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563506380	chr2:187208104-187208105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4666701	chr2:187208172-187208173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559811180	chr2:187208205-187208206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201502634	chr2:187208222-187208223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374822676	chr2:187208268-187208269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71932828	chr2:187208288-187208289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532681124	chr2:187208289-187208290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199589266	chr2:187208294-187208295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528125437	chr2:187208303-187208304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546707509	chr2:187208308-187208309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200631359	chr2:187208309-187208310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561584132	chr2:187208339-187208340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528995440	chr2:187208342-187208343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550863122	chr2:187208351-187208352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369040965	chr2:187208387-187208388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560509181	chr2:187208396-187208397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78618067	chr2:187208503-187208504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141975520	chr2:187208516-187208517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77828442	chr2:187208521-187208522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2012972	chr2:187208583-187208584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12988359	chr2:187208586-187208587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551692015	chr2:187208593-187208594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566519667	chr2:187208617-187208618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183027632	chr2:187208651-187208652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7583221	chr2:187208694-187208695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555734741	chr2:187208842-187208843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574008859	chr2:187208944-187208945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191165893	chr2:187208950-187208951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556849592	chr2:187208964-187208965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139488191	chr2:187208981-187208982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144040363	chr2:187208982-187208983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150274321	chr2:187209001-187209002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139212291	chr2:187209003-187209004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182956557	chr2:187209010-187209011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143237175	chr2:187209033-187209034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13015996	chr2:187209035-187209036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370357582	chr2:187209074-187209075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573314718	chr2:187209090-187209091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147517945	chr2:187209136-187209137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546263646	chr2:187209173-187209174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187590580	chr2:187209187-187209188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533389906	chr2:187209230-187209231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192834595	chr2:187209238-187209239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201280629	chr2:187209294-187209295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140387434	chr2:187209308-187209309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527986151	chr2:187209314-187209315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538490974	chr2:187209318-187209319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184783828	chr2:187209342-187209343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187188600-187216200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:187192400-187211600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:187204800-187209800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:187207600-187213800	Weak transcription	Small Intestine	intestine
5	chr2:187207800-187212600	Weak transcription	HepG2	liver
6	chr2:187207800-187214200	Weak transcription	Fetal Stomach	stomach
7	chr2:187208200-187213000	Weak transcription	Fetal Intestine Small	intestine
8	chr2:187208200-187219600	Weak transcription	Right Atrium	heart
9	chr2:187208600-187211200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:187209400-187213400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:187209600-187209800	Enhancers	Fetal Lung	lung
12	chr2:187209800-187210000	Enhancers	Psoas Muscle	Psoas
13	chr2:187209800-187211200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:187210400-187211000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:187210400-187211000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:187210400-187211000	Enhancers	Colon Smooth Muscle	Colon
17	chr2:187210400-187211600	Weak transcription	Psoas Muscle	Psoas
18	chr2:187210400-187211800	Weak transcription	Fetal Lung	lung
19	chr2:187210400-187212400	Enhancers	GM12878-XiMat	blood
20	chr2:187210600-187210800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:187210600-187211400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:187210600-187212400	Weak transcription	HUVEC	blood vessel
23	chr2:187210600-187214400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:187211000-187211800	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:187211000-187212000	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:187211000-187212600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:187211200-187213000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:187211200-187214600	Enhancers	NHEK	skin
29	chr2:187211400-187211800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:187211600-187211800	Enhancers	Ovary	ovary
31	chr2:187211600-187212000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:187211600-187212000	Enhancers	Psoas Muscle	Psoas
33	chr2:187211600-187212400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr2:187211600-187212600	Enhancers	Brain Hippocampus Middle	brain
35	chr2:187211600-187214400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:187211600-187214600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:187211600-187214600	Enhancers	HMEC	breast
38	chr2:187211800-187212600	Enhancers	Brain Angular Gyrus	brain
39	chr2:187211800-187212800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:187211800-187212800	Enhancers	Hela-S3	cervix
41	chr2:187211800-187213400	Enhancers	Brain Substantia Nigra	brain
42	chr2:187211800-187214200	Enhancers	Fetal Lung	lung
43	chr2:187211800-187214400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:187211800-187214400	Enhancers	Colon Smooth Muscle	Colon
45	chr2:187211800-187214400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr2:187211800-187216200	Weak transcription	Ovary	ovary
47	chr2:187212000-187213200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr2:187212000-187213600	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr2:187212000-187214200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:187212000-187214800	Enhancers	Muscle Satellite Cultured Cells	--

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