Variant report

Variant	nsv524122
Chromosome Location	chr3:135345493-135457953
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:135454481..135456549-chr3:135457551..135459660,2	K562	blood:
2	chr3:135347998..135350193-chr3:135351883..135353717,2	K562	blood:
3	chr3:135454481..135456549-chr3:135457551..135459660,2	K562	blood:
4	chr3:135391829..135394786-chr3:135402269..135404470,2	MCF-7	breast:
5	chr3:135347998..135350193-chr3:135351883..135353717,2	K562	blood:
6	chr3:135455348..135455923-chr3:135613264..135614484,3	MCF-7	breast:
7	chr3:135455303..135455838-chr3:135613708..135614223,2	K562	blood:
8	chr3:135391829..135394786-chr3:135402269..135404470,2	MCF-7	breast:

No data

Extended variants
information (count: 2254 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2254 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1447598	chr3:135345493-135345494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200556398	chr3:135345517-135345518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34103696	chr3:135345574-135345575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187787685	chr3:135345650-135345651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560150434	chr3:135345660-135345661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528348991	chr3:135345661-135345662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546600042	chr3:135345665-135345666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571386780	chr3:135345712-135345713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532210020	chr3:135345734-135345735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564949645	chr3:135345788-135345789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150463580	chr3:135345808-135345809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540723997	chr3:135345812-135345813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192658621	chr3:135345863-135345864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138262485	chr3:135345929-135345930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549537156	chr3:135345940-135345941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144137656	chr3:135346099-135346100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532707614	chr3:135346102-135346103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552695560	chr3:135346103-135346104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566147641	chr3:135346138-135346139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535286105	chr3:135346228-135346229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183214833	chr3:135346265-135346266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57068261	chr3:135346277-135346278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs56370127	chr3:135346280-135346281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568604651	chr3:135346295-135346296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537421228	chr3:135346330-135346331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187463007	chr3:135346416-135346417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192868585	chr3:135346432-135346433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184941044	chr3:135346450-135346451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544985058	chr3:135346455-135346456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558857861	chr3:135346458-135346459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571900317	chr3:135346542-135346543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540860613	chr3:135346582-135346583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560626388	chr3:135346610-135346611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529759192	chr3:135346617-135346618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112487526	chr3:135346654-135346655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550798575	chr3:135346655-135346656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563143595	chr3:135346666-135346667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569789060	chr3:135346695-135346696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189392082	chr3:135346734-135346735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192738878	chr3:135346751-135346752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538882797	chr3:135346778-135346779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371224796	chr3:135346795-135346796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528683484	chr3:135346830-135346831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548829955	chr3:135346840-135346841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568540104	chr3:135346888-135346889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552078041	chr3:135346917-135346918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537558233	chr3:135346945-135346946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557282826	chr3:135346968-135346969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374977315	chr3:135347002-135347003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570754222	chr3:135347024-135347025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135342400-135347800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:135344800-135346000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:135345800-135346000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:135346000-135350400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:135346000-135351800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:135347200-135347400	Enhancers	Fetal Muscle Leg	muscle
7	chr3:135347400-135349200	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:135347600-135348800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:135347800-135348000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:135347800-135348800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:135348000-135367400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:135348600-135349000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:135348800-135349400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:135349200-135350000	Enhancers	Fetal Muscle Leg	muscle
15	chr3:135351800-135352000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:135353200-135353800	Active TSS	Spleen	Spleen
17	chr3:135353400-135354800	Enhancers	Fetal Stomach	stomach
18	chr3:135353600-135357200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:135353800-135357200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:135355800-135356200	Enhancers	Brain Hippocampus Middle	brain
21	chr3:135359600-135360200	Enhancers	Psoas Muscle	Psoas
22	chr3:135360200-135361400	Weak transcription	Psoas Muscle	Psoas
23	chr3:135361600-135361800	Enhancers	Psoas Muscle	Psoas
24	chr3:135367400-135368200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:135367800-135368200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr3:135368800-135370000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr3:135372000-135373600	Weak transcription	Pancreas	Pancrea
28	chr3:135373800-135374200	ZNF genes & repeats	Pancreas	Pancrea
29	chr3:135374000-135374200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:135374200-135377400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:135376800-135377800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr3:135377000-135377200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:135377000-135378000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr3:135377200-135377400	Active TSS	H1 Cell Line	embryonic stem cell
35	chr3:135377200-135377600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr3:135377200-135377600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:135377200-135377800	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr3:135377200-135377800	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr3:135377200-135377800	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr3:135377200-135377800	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr3:135377400-135377600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:135377400-135377800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr3:135377400-135377800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:135377400-135377800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:135377400-135378000	Active TSS	H9 Cell Line	embryonic stem cell
46	chr3:135377400-135378000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:135377400-135378000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:135377600-135377800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:135377600-135378000	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr3:135377800-135378000	Active TSS	H1 Cell Line	embryonic stem cell

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