Variant report

Variant	nsv878142
Chromosome Location	chr3:195109866-195143983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr3:195118576-195118596	K562	blood:	n/a	n/a
2	BHLHE40	chr3:195114767-195115120	GM12878	blood:	n/a	n/a
3	CEBPB	chr3:195133940-195134434	IMR90	lung:	n/a	chr3:195134040-195134053
4	CEBPB	chr3:195142195-195142415	HepG2	liver:	n/a	n/a
5	CEBPB	chr3:195133956-195134439	MCF-7	breast:	n/a	chr3:195134040-195134053
6	CEBPB	chr3:195116091-195116306	HepG2	liver:	n/a	n/a
7	CEBPB	chr3:195137594-195137784	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr3:195134115-195134423	HepG2	liver:	n/a	n/a
9	CEBPB	chr3:195134221-195134401	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr3:195117387-195117882	IMR90	lung:	n/a	n/a
11	CEBPB	chr3:195117516-195117880	K562	blood:	n/a	n/a
12	CEBPB	chr3:195142185-195142500	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr3:195142168-195142509	IMR90	lung:	n/a	n/a
14	CEBPB	chr3:195141077-195141184	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr3:195134103-195134474	K562	blood:	n/a	n/a
16	CEBPB	chr3:195134080-195134538	MCF-7	breast:	n/a	n/a
17	CEBPB	chr3:195117681-195117825	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr3:195134110-195134480	K562	blood:	n/a	n/a
19	CEBPB	chr3:195134115-195134473	A549	lung:	n/a	n/a
20	CEBPB	chr3:195134135-195134369	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr3:195116791-195116829	GM20000	blood:	n/a	n/a
22	CTCF	chr3:195114890-195114914	MCF-7	breast:	n/a	n/a
23	CTCF	chr3:195116280-195116430	GM12872	blood:	n/a	n/a
24	CTCF	chr3:195127764-195127815	GM13976	blood:	n/a	n/a
25	CTCF	chr3:195142020-195142170	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr3:195114872-195114960	GM19239	blood:	n/a	n/a
27	CTCF	chr3:195114888-195114949	MCF-7	breast:	n/a	n/a
28	CTCF	chr3:195114931-195114947	MCF-7	breast:	n/a	n/a
29	CUX1	chr3:195117710-195117743	GM12878	blood:	n/a	n/a
30	E2F4	chr3:195139915-195139987	MCF10A-Er-Src	breast:	n/a	n/a
31	EBF1	chr3:195114763-195115078	GM12878	blood:	n/a	n/a
32	EBF1	chr3:195130536-195130817	GM12878	blood:	n/a	chr3:195130671-195130682
33	EBF1	chr3:195111421-195111461	GM12878	blood:	n/a	chr3:195111427-195111438
34	EBF1	chr3:195130658-195130846	GM12878	blood:	n/a	chr3:195130671-195130682
35	ELK1	chr3:195116026-195116034	GM12878	blood:	n/a	n/a
36	ELK1	chr3:195127553-195127590	GM12878	blood:	n/a	n/a
37	EP300	chr3:195122744-195122988	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr3:195122472-195123263	SK-N-SH	brain:	n/a	n/a
39	EP300	chr3:195114758-195115163	GM12878	blood:	n/a	chr3:195114961-195114975
40	EP300	chr3:195114804-195115163	GM12878	blood:	n/a	chr3:195114961-195114975
41	FOS	chr3:195137547-195137892	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr3:195137541-195137900	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr3:195142192-195142531	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr3:195137510-195137907	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr3:195142169-195142504	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr3:195117381-195117790	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr3:195117395-195117819	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr3:195142189-195142513	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr3:195137503-195137892	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr3:195142263-195142414	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195108508..195110798-chr3:195111996..195115917,4	K562	blood:
2	chr3:195137797..195139503-chr3:195140426..195142233,2	K562	blood:
3	chr3:195112021..195114749-chr3:195120473..195123237,3	K562	blood:
4	chr3:195115819..195117385-chr3:195118245..195120989,2	K562	blood:
5	chr3:195107747..195110594-chr3:195131187..195133391,2	MCF-7	breast:
6	chr3:195118577..195121196-chr3:195123610..195125221,2	K562	blood:
7	chr3:195114422..195115970-chr3:195117512..195119641,2	MCF-7	breast:
8	chr3:195137707..195139591-chr3:195140470..195142903,2	MCF-7	breast:
9	chr3:195112021..195114913-chr3:195121737..195123934,2	K562	blood:
10	chr3:195118569..195121497-chr3:195125322..195127616,3	K562	blood:
11	chr3:195137707..195139591-chr3:195140470..195142903,2	MCF-7	breast:
12	chr3:195086495..195088641-chr3:195116660..195118594,2	K562	blood:
13	chr3:195106649..195108609-chr3:195109731..195111728,2	K562	blood:
14	chr3:195107747..195110594-chr3:195131187..195133391,2	MCF-7	breast:
15	chr3:195118569..195121497-chr3:195125322..195127616,3	K562	blood:
16	chr3:195140418..195142726-chr3:195147960..195149688,2	K562	blood:
17	chr3:195109170..195110798-chr3:195111996..195115917,3	K562	blood:
18	chr3:195112021..195114913-chr3:195121737..195123934,2	K562	blood:
19	chr3:195118577..195121196-chr3:195123610..195125221,2	K562	blood:
20	chr3:195100963..195103104-chr3:195112352..195114705,2	MCF-7	breast:
21	chr3:195115819..195117385-chr3:195118245..195120989,2	K562	blood:
22	chr3:195140758..195142761-chr3:195162316..195165010,2	MCF-7	breast:
23	chr3:195139843..195142071-chr3:195162223..195164874,2	MCF-7	breast:
24	chr3:195108508..195110798-chr3:195111996..195115917,4	K562	blood:
25	chr3:195112021..195114749-chr3:195120473..195123237,3	K562	blood:
26	chr3:195106101..195107795-chr3:195127208..195129590,2	MCF-7	breast:
27	chr3:195114422..195115970-chr3:195117512..195119641,2	MCF-7	breast:
28	chr3:195140841..195144562-chr3:195162186..195164822,3	K562	blood:
29	chr3:195109170..195110798-chr3:195111996..195115917,3	K562	blood:
30	chr3:195127749..195130256-chr3:195162538..195164102,2	K562	blood:
31	chr3:195137797..195139503-chr3:195140426..195142233,2	K562	blood:
32	chr3:195131548..195133612-chr3:195139507..195142026,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000207368	TF binding region
ENSG00000207368	chromatin interactions
ENSG00000114331	chromatin interactions

Extended variants
information (count: 1265 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1265 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs823307	chr3:195109866-195109867	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544972316	chr3:195109876-195109877	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144149685	chr3:195109915-195109916	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111494450	chr3:195109916-195109917	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188829949	chr3:195109935-195109936	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79872853	chr3:195109943-195109944	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528240257	chr3:195109996-195109997	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577511352	chr3:195110028-195110029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73893628	chr3:195110048-195110049	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs139524163	chr3:195110057-195110058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76137995	chr3:195110077-195110078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540076671	chr3:195110092-195110093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546859680	chr3:195110126-195110127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7616598	chr3:195110186-195110187	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs548533548	chr3:195110197-195110198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371016251	chr3:195110269-195110270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534104609	chr3:195110410-195110411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535828965	chr3:195110446-195110447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369957737	chr3:195110465-195110466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193283479	chr3:195110466-195110467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538675229	chr3:195110505-195110506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556991251	chr3:195110542-195110543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79447129	chr3:195110581-195110582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542926414	chr3:195110585-195110586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374003891	chr3:195110690-195110691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62288364	chr3:195110699-195110700	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs149900360	chr3:195110700-195110701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569728644	chr3:195110703-195110704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62288365	chr3:195110720-195110721	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs532467958	chr3:195110742-195110743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544227430	chr3:195110743-195110744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562527992	chr3:195110826-195110827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369968096	chr3:195110857-195110858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558727033	chr3:195110873-195110874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530001817	chr3:195110880-195110881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200498374	chr3:195110925-195110926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548883590	chr3:195110936-195110937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567004484	chr3:195110956-195110957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145367059	chr3:195110997-195110998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552482648	chr3:195111014-195111015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577066899	chr3:195111068-195111069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538723840	chr3:195111123-195111124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183232560	chr3:195111170-195111171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541359167	chr3:195111283-195111284	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557061222	chr3:195111307-195111308	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186807902	chr3:195111315-195111316	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149191000	chr3:195111346-195111347	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191131618	chr3:195111347-195111348	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375058522	chr3:195111387-195111388	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553273208	chr3:195111400-195111401	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:815 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195040600-195111200	Weak transcription	Fetal Brain Male	brain
2	chr3:195041000-195131200	Weak transcription	Gastric	stomach
3	chr3:195052400-195118000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:195065000-195114800	Weak transcription	Osteobl	bone
5	chr3:195074200-195113200	Weak transcription	HSMMtube	muscle
6	chr3:195074800-195118000	Weak transcription	K562	blood
7	chr3:195077400-195118000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:195077800-195114200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:195077800-195117800	Weak transcription	Brain Angular Gyrus	brain
10	chr3:195077800-195122800	Weak transcription	Right Ventricle	heart
11	chr3:195078000-195110600	Weak transcription	Left Ventricle	heart
12	chr3:195078000-195142200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:195078400-195111000	Weak transcription	Fetal Brain Female	brain
14	chr3:195078600-195118000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:195079800-195114400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:195087800-195131200	Weak transcription	NHDF-Ad	bronchial
17	chr3:195088200-195115200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:195088400-195111200	Weak transcription	NH-A	brain
19	chr3:195088600-195146800	Weak transcription	Spleen	Spleen
20	chr3:195090800-195116800	Weak transcription	Aorta	Aorta
21	chr3:195091400-195116200	Weak transcription	Liver	Liver
22	chr3:195093600-195110400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:195093600-195114800	Weak transcription	Lung	lung
24	chr3:195093800-195114800	Weak transcription	Ovary	ovary
25	chr3:195094800-195161200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:195095200-195110400	Weak transcription	Thymus	Thymus
27	chr3:195095200-195111200	Weak transcription	Fetal Stomach	stomach
28	chr3:195095200-195116800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr3:195095200-195161800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:195095800-195134200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:195100000-195113200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr3:195100400-195111200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:195100600-195117000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:195100800-195110600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:195101800-195122200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr3:195102200-195114400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr3:195102400-195114800	Weak transcription	Psoas Muscle	Psoas
38	chr3:195102600-195114400	Weak transcription	Dnd41	blood
39	chr3:195102600-195114800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:195102600-195114800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr3:195102600-195115000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:195102600-195115400	Weak transcription	Adipose Nuclei	Adipose
43	chr3:195102600-195118000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr3:195102600-195129800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr3:195102800-195112200	Weak transcription	GM12878-XiMat	blood
46	chr3:195102800-195115400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:195103200-195111600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr3:195103400-195110800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr3:195103600-195110800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:195103800-195117400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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