Variant report

Variant	nsv967093
Chromosome Location	chr3:178955061-178961551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr3:178959361-178959428	MCF10A-Er-Src	breast:	n/a	n/a
2	HNF4A	chr3:178961328-178961599	HepG2	liver:	n/a	chr3:178961550-178961562 chr3:178961549-178961557
3	IRF1	chr3:178954321-178955109	K562	blood:	n/a	n/a
4	IRF1	chr3:178954475-178955161	K562	blood:	n/a	n/a
5	MAFK	chr3:178959197-178959289	IMR90	lung:	n/a	n/a
6	MAFK	chr3:178959187-178959262	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:178957532-178957621	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr3:178959578-178959639	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr3:178959400-178959570	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr3:178961268-178961622	K562	blood:	n/a	n/a
11	POLR2A	chr3:178956421-178956519	ProgFib	skin:	n/a	n/a
12	POLR2A	chr3:178959987-178960142	ProgFib	skin:	n/a	n/a
13	POLR2A	chr3:178956004-178956216	K562	blood:	n/a	n/a
14	POLR2A	chr3:178956846-178960865	K562	blood:	n/a	n/a
15	POLR2A	chr3:178960645-178960707	ProgFib	skin:	n/a	n/a
16	POLR2A	chr3:178949659-178955323	K562	blood:	n/a	n/a
17	POLR2A	chr3:178960918-178961030	MCF-7	breast:	n/a	n/a
18	POLR2A	chr3:178960907-178961104	ProgFib	skin:	n/a	n/a
19	TBL1XR1	chr3:178954520-178955107	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:178961439-178961489	MCF-7	breast:	n/a
2	chr3:178961439-178961489	RPTEC	kidney:	n/a
3	chr3:178960688-178960738	GM12878	blood:	n/a
4	chr3:178961439-178961489	IMR90	lung:	fetal
5	chr3:178960688-178960738	HCPEpiC	choroid plexus:	n/a
6	chr3:178961439-178961489	HRE	kidney:	n/a
7	chr3:178960688-178960738	HepG2	liver:	n/a
8	chr3:178961439-178961489	HMEC	breast:	n/a
9	chr3:178960688-178960738	HCT-116	colon:	n/a
10	chr3:178961439-178961489	HL-60	blood:	n/a
11	chr3:178960688-178960738	SKMC	muscle:	n/a
12	chr3:178960688-178960738	IMR90	lung:	fetal
13	chr3:178960688-178960738	H1-hESC	embryonic stem cell:	embryo
14	chr3:178961439-178961489	AG04450	lung:	fetal
15	chr3:178961439-178961489	ovcar-3	ovarian:	n/a
16	chr3:178961439-178961489	LNCaP	prostate:	n/a
17	chr3:178960688-178960738	BJ	skin:	n/a
18	chr3:178960688-178960738	AG09319	gingival:	n/a
19	chr3:178961439-178961489	GM06990	blood:	n/a
20	chr3:178960688-178960738	HMEC	breast:	n/a
21	chr3:178960688-178960738	PrEC	prostate:	n/a
22	chr3:178961439-178961489	BJ	skin:	n/a
23	chr3:178960688-178960738	SK-N-SH_RA	brain:	n/a
24	chr3:178960688-178960738	GM19239	blood:	n/a
25	chr3:178960688-178960738	RPTEC	kidney:	n/a
26	chr3:178960688-178960738	MCF-7	breast:	n/a
27	chr3:178961439-178961489	HRCEpiC	kidney:	n/a
28	chr3:178961439-178961489	NT2-D1	testis:	n/a
29	chr3:178960688-178960738	HPAEpiC	pulmonary alveolar:	n/a
30	chr3:178961439-178961489	HRPEpiC	eye:	n/a
31	chr3:178961439-178961489	HCF	heart:	n/a
32	chr3:178961439-178961489	ECC-1	luminal epithelium:	n/a
33	chr3:178960688-178960738	NHDF-neo	bronchial:	n/a
34	chr3:178960688-178960738	Jurkat	blood:	n/a
35	chr3:178960688-178960738	AG04449	skin:	fetal
36	chr3:178961439-178961489	HEK293	kidney:	embryo
37	chr3:178961439-178961489	K562	blood:	n/a
38	chr3:178960688-178960738	LNCaP	prostate:	n/a
39	chr3:178961439-178961489	Hela-S3	cervix:	n/a
40	chr3:178960688-178960738	HCM	heart:	n/a
41	chr3:178960688-178960738	Caco-2	colon:	n/a
42	chr3:178961439-178961489	HUVEC	blood vessel:	n/a
43	chr3:178960688-178960738	A549	lung:	n/a
44	chr3:178961439-178961489	Jurkat	blood:	n/a
45	chr3:178960688-178960738	PANC-1	pancreas:	n/a
46	chr3:178960688-178960738	NH-A	brain:	n/a
47	chr3:178960688-178960738	MCF10A-Er-Src	breast:	n/a
48	chr3:178960688-178960738	HRCEpiC	kidney:	n/a
49	chr3:178960688-178960738	GM12891	blood:	n/a
50	chr3:178960688-178960738	Hela-S3	cervix:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:178961023..178967533-chr3:178968774..178973213,9	K562	blood:
2	chr3:178953311..178955072-chr3:178966973..178969868,2	K562	blood:
3	chr3:178957491..178960489-chr3:179038933..179040932,2	MCF-7	breast:
4	chr3:178961430..178967225-chr3:178967360..178970302,5	K562	blood:
5	chr3:178951996..178954548-chr3:178958414..178959970,2	K562	blood:
6	chr3:178961495..178963231-chr3:178964563..178967338,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNMB3-1	chr3:178957530-178957852	NONHSAT093389
2	lnc-ZNF639-4	chr3:178953578-178955289	NONHSAT093388
3	lnc-KCNMB3-2	chr3:178954479-178955163	ENSG00000272700.1
4	lnc-KCNMB3-1	chr3:178960921-178961077	NONHSAT093389

No data

Variant related genes	Relation type
KCNMB3	TF binding region
ENSG00000272700	TF binding region
KCNMB3	CpG island
ENSG00000272700	CpG island
ENSG00000121864	chromatin interactions
ENSG00000171121	chromatin interactions

Extended variants
information (count: 208 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182398968	chr3:178955095-178955096	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs73882972	chr3:178955185-178955186	Weak transcription Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs566917398	chr3:178955195-178955196	Weak transcription Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs535883299	chr3:178955217-178955218	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs552609991	chr3:178955223-178955224	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs187009973	chr3:178955238-178955239	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs550094330	chr3:178955317-178955318	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs535191652	chr3:178955357-178955358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192251087	chr3:178955370-178955371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143625297	chr3:178955372-178955373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543738161	chr3:178955383-178955384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536737576	chr3:178955394-178955395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183045500	chr3:178955428-178955429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564059072	chr3:178955429-178955430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187291447	chr3:178955499-178955500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543055928	chr3:178955543-178955544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559841785	chr3:178955553-178955554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528609106	chr3:178955572-178955573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545516001	chr3:178955726-178955727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553123603	chr3:178955754-178955755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6443626	chr3:178955783-178955784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs373198732	chr3:178955826-178955827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111342412	chr3:178955876-178955877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550590215	chr3:178955877-178955878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190244108	chr3:178955893-178955894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572530285	chr3:178956045-178956046	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs529595744	chr3:178956052-178956053	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs546209544	chr3:178956090-178956091	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs3976509	chr3:178956133-178956134	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs116128156	chr3:178956145-178956146	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs3961212	chr3:178956169-178956170	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs3976508	chr3:178956175-178956176	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs538339691	chr3:178956187-178956188	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs2091652	chr3:178956211-178956212	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs558647737	chr3:178956232-178956233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201261841	chr3:178956284-178956285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571746475	chr3:178956310-178956311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7638649	chr3:178956335-178956336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182417515	chr3:178956337-178956338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187955089	chr3:178956343-178956344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543017391	chr3:178956351-178956352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3865692	chr3:178956378-178956379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553385159	chr3:178956402-178956403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573215544	chr3:178956449-178956450	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs3865693	chr3:178956465-178956466	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs3865694	chr3:178956475-178956476	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs577435650	chr3:178956483-178956484	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs142695005	chr3:178956484-178956485	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs185734013	chr3:178956565-178956566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544397637	chr3:178956643-178956644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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	22032731	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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Autism	20685689	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178906400-178962400	Weak transcription	HepG2	liver
2	chr3:178912400-178978600	Weak transcription	Right Ventricle	heart
3	chr3:178913800-178969000	Weak transcription	Small Intestine	intestine
4	chr3:178914800-178972800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:178915800-178965200	Weak transcription	Hela-S3	cervix
6	chr3:178920200-178968400	Weak transcription	Spleen	Spleen
7	chr3:178925800-178968200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:178925800-178968600	Weak transcription	Pancreas	Pancrea
9	chr3:178928600-178962400	Weak transcription	Brain Substantia Nigra	brain
10	chr3:178929800-178962800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr3:178932200-178974000	Weak transcription	Lung	lung
12	chr3:178941800-178972600	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:178942800-178965400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:178945800-178978400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:178948200-178967400	Weak transcription	NHDF-Ad	bronchial
16	chr3:178948400-178967600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:178948800-178962200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:178948800-178966600	Weak transcription	Psoas Muscle	Psoas
19	chr3:178948800-178978600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:178949000-178962600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:178949000-178962800	Weak transcription	Left Ventricle	heart
22	chr3:178949000-178964400	Weak transcription	Brain Angular Gyrus	brain
23	chr3:178949000-178966200	Weak transcription	Aorta	Aorta
24	chr3:178949000-178968200	Weak transcription	Fetal Stomach	stomach
25	chr3:178949000-178970800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr3:178949000-178978200	Weak transcription	NHLF	lung
27	chr3:178949000-178978600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr3:178949000-178978600	Weak transcription	Ovary	ovary
29	chr3:178949000-178978800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr3:178949200-178964600	Weak transcription	Fetal Muscle Leg	muscle
31	chr3:178949200-178967400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:178949200-178967600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:178949200-178968600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:178949200-178968600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr3:178949200-178978400	Weak transcription	Brain Anterior Caudate	brain
36	chr3:178949200-178978600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:178949200-178978600	Weak transcription	Osteobl	bone
38	chr3:178949800-178956200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr3:178949800-178964200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr3:178949800-178969000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:178950200-178962400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:178952000-178968200	Weak transcription	Fetal Brain Female	brain
43	chr3:178952000-178978400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr3:178952200-178955400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:178952200-178962400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:178952200-178962400	Weak transcription	Adipose Nuclei	Adipose
47	chr3:178952200-178967400	Weak transcription	Liver	Liver
48	chr3:178952200-178968400	Weak transcription	Fetal Lung	lung
49	chr3:178952200-178970400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr3:178952200-178973000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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