Variant report

Variant	nsv1008522
Chromosome Location	chr3:102515742-102651023
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:102614501..102616425-chr3:102617335..102619639,2	K562	blood:
2	chr3:102605564..102608047-chr3:102611373..102613671,2	MCF-7	breast:
3	chr3:102614501..102616425-chr3:102617335..102619639,2	K562	blood:
4	chr3:102605564..102608047-chr3:102611373..102613671,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZPLD1-4	chr3:102644557-102644725	NONHSAT090938
2	lnc-ZPLD1-4	chr3:102644557-102644725	FPKM1_group_21624_transcript_1
3	lnc-ZPLD1-2	chr3:102636251-102636282	XLOC_002743

No data

Variant related genes	Relation type
ARHGAP12	miRNA target sites

Extended variants
information (count: 779 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:779 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138019395	chr3:102515746-102515747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559996583	chr3:102515762-102515763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190886721	chr3:102515764-102515765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572128887	chr3:102515805-102515806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555581759	chr3:102515814-102515815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143579920	chr3:102515854-102515855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77735441	chr3:102515861-102515862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144056583	chr3:102515890-102515891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113739870	chr3:102515934-102515935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148269351	chr3:102515982-102515983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547923056	chr3:102515983-102515984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566083636	chr3:102516022-102516023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141377731	chr3:102516099-102516100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2173329	chr3:102516110-102516111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183962452	chr3:102516154-102516155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569702243	chr3:102516185-102516186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375488078	chr3:102516207-102516208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537015939	chr3:102516231-102516232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556208994	chr3:102516249-102516250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150824620	chr3:102516264-102516265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538462696	chr3:102516283-102516284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553920989	chr3:102516284-102516285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs825358	chr3:102516291-102516292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112495572	chr3:102516302-102516303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542720684	chr3:102516313-102516314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374054592	chr3:102516332-102516333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560132521	chr3:102516346-102516347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544484965	chr3:102516376-102516377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554639378	chr3:102516419-102516420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367922908	chr3:102516444-102516445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139558417	chr3:102516445-102516446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565442220	chr3:102516464-102516465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142774124	chr3:102516568-102516569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146078079	chr3:102516590-102516591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80131990	chr3:102516615-102516616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186067065	chr3:102516628-102516629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73141859	chr3:102516693-102516694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183035356	chr3:102516808-102516809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577865959	chr3:102516826-102516827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552505937	chr3:102516828-102516829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113554509	chr3:102516855-102516856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545134734	chr3:102516871-102516872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560256003	chr3:102516887-102516888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187363118	chr3:102516902-102516903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538919822	chr3:102516916-102516917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111368308	chr3:102516945-102516946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192766812	chr3:102516952-102516953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149815583	chr3:102516999-102517000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554727147	chr3:102517033-102517034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3914180	chr3:102517062-102517063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102508400-102518800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:102515400-102516400	Enhancers	Fetal Lung	lung
3	chr3:102522000-102522400	Enhancers	Fetal Stomach	stomach
4	chr3:102531200-102532000	Enhancers	Fetal Lung	lung
5	chr3:102532000-102534000	Weak transcription	Fetal Lung	lung
6	chr3:102534000-102534400	Enhancers	Fetal Lung	lung
7	chr3:102547800-102548800	Weak transcription	Gastric	stomach
8	chr3:102548800-102549200	Strong transcription	Gastric	stomach
9	chr3:102549200-102550000	ZNF genes & repeats	Gastric	stomach
10	chr3:102549400-102549800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:102549600-102550200	Enhancers	Pancreas	Pancrea
12	chr3:102549800-102550000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:102566200-102566800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:102566400-102566800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:102566400-102567000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:102566400-102567200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr3:102574000-102574200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:102601400-102601600	Enhancers	Rectal Smooth Muscle	rectum
19	chr3:102601800-102602800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:102602800-102603200	Enhancers	Rectal Smooth Muscle	rectum
21	chr3:102603000-102605000	Enhancers	HepG2	liver
22	chr3:102615400-102615600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:102615400-102616200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:102615600-102616200	Enhancers	HSMM	muscle
25	chr3:102615800-102616400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:102615800-102616400	Enhancers	Ovary	ovary
27	chr3:102623000-102623800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:102628600-102629200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr3:102628800-102629200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:102629000-102629400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr3:102629200-102629600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:102629400-102629800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:102629600-102630000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr3:102629800-102631400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr3:102644000-102644400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr3:102645000-102645400	Weak transcription	H1 Cell Line	embryonic stem cell

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