Variant report

Variant	nsv876613
Chromosome Location	chr3:21794174-21825247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:248)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:248 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:21814548-21814749	HepG2	liver:	n/a	chr3:21814627-21814638
2	CTCF	chr3:21794380-21794530	HAc	cerebellar:	n/a	n/a
3	CTCF	chr3:21794300-21794450	RPTEC	kidney:	n/a	n/a
4	CTCF	chr3:21794300-21794450	HAc	cerebellar:	n/a	n/a
5	CTCF	chr3:21821720-21821870	HPF	lung:	n/a	chr3:21821839-21821848
6	CTCF	chr3:21794300-21794450	GM12872	blood:	n/a	n/a
7	CTCF	chr3:21794320-21794470	GM12866	blood:	n/a	n/a
8	CTCF	chr3:21794380-21794530	HA-sp	spinal cord:	n/a	n/a
9	CTCF	chr3:21794380-21794530	AG04449	skin:	n/a	n/a
10	CTCF	chr3:21794420-21794570	BJ	skin:	n/a	n/a
11	CTCF	chr3:21794240-21794390	HCT-116	colon:	n/a	n/a
12	CTCF	chr3:21794316-21794572	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr3:21794340-21794490	GM06990	blood:	n/a	n/a
14	CTCF	chr3:21794351-21794539	HepG2	liver:	n/a	n/a
15	CTCF	chr3:21794280-21794430	A549	lung:	n/a	n/a
16	CTCF	chr3:21794360-21794510	AG04450	lung:	n/a	n/a
17	CTCF	chr3:21794340-21794490	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr3:21794400-21794550	GM12870	blood:	n/a	n/a
19	CTCF	chr3:21794380-21794530	BE2_C	brain:	n/a	n/a
20	CTCF	chr3:21794360-21794510	K562	blood:	n/a	n/a
21	CTCF	chr3:21794320-21794470	HepG2	liver:	n/a	n/a
22	CTCF	chr3:21794317-21794560	ProgFib	skin:	n/a	n/a
23	CTCF	chr3:21794340-21794490	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr3:21794268-21794661	IMR90	lung:	n/a	n/a
25	CTCF	chr3:21794328-21794546	MCF-7	breast:	n/a	n/a
26	CTCF	chr3:21794340-21794490	AG10803	skin:	n/a	n/a
27	CTCF	chr3:21794368-21794519	GM10248	blood:	n/a	n/a
28	CTCF	chr3:21794360-21794510	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr3:21794335-21794535	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr3:21794300-21794450	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr3:21794316-21794573	MCF-7	breast:	n/a	n/a
32	CTCF	chr3:21794380-21794530	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr3:21794345-21794540	Fibrobl	skin:	n/a	n/a
34	CTCF	chr3:21794360-21794510	HMEC	breast:	n/a	n/a
35	CTCF	chr3:21794340-21794490	GM12867	blood:	n/a	n/a
36	CTCF	chr3:21794314-21794570	Lung_OC	lung:	n/a	n/a
37	CTCF	chr3:21794317-21794569	K562	blood:	n/a	n/a
38	CTCF	chr3:21794400-21794550	MCF-7	breast:	n/a	n/a
39	CTCF	chr3:21794357-21794551	GM13977	blood:	n/a	n/a
40	CTCF	chr3:21794360-21794510	HCM	heart:	n/a	n/a
41	CTCF	chr3:21794409-21794463	GM20000	blood:	n/a	n/a
42	CTCF	chr3:21794380-21794530	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr3:21794380-21794530	HepG2	liver:	n/a	n/a
44	CTCF	chr3:21794360-21794510	GM12874	blood:	n/a	n/a
45	CTCF	chr3:21794360-21794510	GM12873	blood:	n/a	n/a
46	CTCF	chr3:21794400-21794550	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr3:21794314-21794535	HepG2	liver:	n/a	n/a
48	CTCF	chr3:21794320-21794470	MCF-7	breast:	n/a	n/a
49	CTCF	chr3:21794423-21794440	MCF-7	breast:	n/a	n/a
50	CTCF	chr3:21794328-21794538	SK-N-SH_RA	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:21820384..21822203-chr3:21834742..21836819,2	K562	blood:
2	chr3:21794398..21795153-chr3:22159350..22159975,2	MCF-7	breast:
3	chr3:21793963..21794585-chr3:21876272..21877179,2	MCF-7	breast:
4	chr3:21793981..21794891-chr3:21935742..21936689,4	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF385D	TF binding region

Extended variants
information (count: 810 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:810 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13340131	chr3:21794174-21794175	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541436734	chr3:21794184-21794185	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs559740749	chr3:21794188-21794189	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs530130747	chr3:21794189-21794190	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs549229544	chr3:21794215-21794216	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs190007377	chr3:21794246-21794247	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs193035881	chr3:21794251-21794252	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs374203161	chr3:21794281-21794282	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs549749998	chr3:21794288-21794289	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs571006618	chr3:21794289-21794290	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs111653665	chr3:21794307-21794308	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs553460512	chr3:21794309-21794310	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs114024386	chr3:21794354-21794355	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs367641725	chr3:21794381-21794382	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs535867868	chr3:21794394-21794395	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs140813898	chr3:21794403-21794404	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs576700370	chr3:21794450-21794451	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs544001471	chr3:21794458-21794459	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558835097	chr3:21794465-21794466	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs185141318	chr3:21794470-21794471	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs74423810	chr3:21794514-21794515	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs559866280	chr3:21794543-21794544	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs144762291	chr3:21794579-21794580	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs541825824	chr3:21794589-21794590	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs561247370	chr3:21794651-21794652	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs76035330	chr3:21794712-21794713	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs138978150	chr3:21794732-21794733	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs564778226	chr3:21794850-21794851	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs4261893	chr3:21794874-21794875	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs79599115	chr3:21794875-21794876	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs565407667	chr3:21794878-21794879	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs536259001	chr3:21794897-21794898	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs11711337	chr3:21794904-21794905	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570329101	chr3:21794907-21794908	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs201298498	chr3:21794921-21794922	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs386659208	chr3:21794923-21794924	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs9874150	chr3:21794925-21794926	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577544698	chr3:21794929-21794930	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs190825843	chr3:21794981-21794982	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs553520499	chr3:21794995-21794996	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs181812329	chr3:21795012-21795013	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs574947029	chr3:21795027-21795028	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs542211208	chr3:21795063-21795064	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs563580156	chr3:21795091-21795092	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs60153985	chr3:21795098-21795099	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547131825	chr3:21795112-21795113	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs543386491	chr3:21795119-21795120	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs148567222	chr3:21795126-21795127	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs142934208	chr3:21795127-21795128	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs532195401	chr3:21795157-21795158	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21793200-21795600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:21793200-21795800	Weak transcription	HSMMtube	muscle
3	chr3:21793400-21794200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:21793400-21794200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:21793400-21794200	Enhancers	NHDF-Ad	bronchial
6	chr3:21793400-21794400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:21793400-21794800	Weak transcription	Fetal Heart	heart
8	chr3:21793400-21795800	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:21793400-21801600	Weak transcription	Fetal Lung	lung
10	chr3:21793800-21794400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:21794000-21794200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:21794000-21794200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr3:21794400-21794600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:21794600-21795400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:21795400-21796400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:21795800-21796600	Enhancers	Fetal Muscle Leg	muscle
17	chr3:21795800-21797000	Enhancers	HSMMtube	muscle
18	chr3:21796200-21796400	Enhancers	Fetal Heart	heart
19	chr3:21801600-21802000	Enhancers	Fetal Lung	lung
20	chr3:21815600-21815800	ZNF genes & repeats	Aorta	Aorta
21	chr3:21815800-21816200	Weak transcription	Aorta	Aorta
22	chr3:21819800-21820000	Enhancers	Right Ventricle	heart
23	chr3:21819800-21820200	Enhancers	Left Ventricle	heart
24	chr3:21820200-21820600	Weak transcription	Left Ventricle	heart
25	chr3:21820200-21821400	Weak transcription	Aorta	Aorta
26	chr3:21820400-21820800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:21820400-21820800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr3:21820600-21820800	Enhancers	Left Ventricle	heart
29	chr3:21820600-21820800	Enhancers	Right Ventricle	heart
30	chr3:21820800-21831800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:21820800-21835600	Weak transcription	Left Ventricle	heart
32	chr3:21821400-21822800	Enhancers	Aorta	Aorta
33	chr3:21822800-21823200	Weak transcription	Aorta	Aorta
34	chr3:21823200-21823800	Enhancers	Aorta	Aorta
35	chr3:21823400-21823800	Enhancers	Psoas Muscle	Psoas
36	chr3:21823800-21833800	Weak transcription	Psoas Muscle	Psoas
37	chr3:21823800-21836000	Weak transcription	Aorta	Aorta
38	chr3:21824800-21826000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:21824800-21826000	Enhancers	Fetal Heart	heart
40	chr3:21825000-21825400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:21825000-21825400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:21825000-21825400	Enhancers	Fetal Lung	lung
43	chr3:21825000-21825400	Enhancers	Right Atrium	heart
44	chr3:21825000-21825800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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