Variant report

Variant	nsv1008866
Chromosome Location	chr3:136364511-136427790
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:136364480..136366014-chr3:136376930..136379520,2	MCF-7	breast:
2	chr3:136371597..136373384-chr3:136469509..136471218,2	K562	blood:
3	chr3:136364480..136366014-chr3:136376930..136379520,2	MCF-7	breast:
4	chr3:136388635..136392149-chr3:136467930..136472508,4	K562	blood:
5	chr3:136399125..136401891-chr3:136427700..136429759,2	MCF-7	breast:
6	chr3:136362757..136364544-chr3:136367826..136369357,2	MCF-7	breast:
7	chr3:136344347..136346500-chr3:136421190..136423734,2	MCF-7	breast:
8	chr3:136422396..136423901-chr3:136425473..136427941,2	MCF-7	breast:
9	chr3:136377566..136379306-chr3:136381547..136383907,2	K562	blood:
10	chr3:136366127..136367827-chr3:136383868..136385669,2	K562	blood:
11	chr3:136389263..136391478-chr3:136467252..136469430,2	K562	blood:
12	chr3:136371791..136373767-chr3:136377876..136379959,2	MCF-7	breast:
13	chr3:136392775..136395146-chr3:136470930..136472567,2	K562	blood:
14	chr3:136366127..136367827-chr3:136383868..136385669,2	K562	blood:
15	chr3:136377566..136379306-chr3:136381547..136383907,2	K562	blood:
16	chr3:136422396..136423901-chr3:136425473..136427941,2	MCF-7	breast:
17	chr3:136405715..136407497-chr3:136411173..136412850,2	K562	blood:
18	chr3:136365030..136366947-chr3:136367021..136371094,3	MCF-7	breast:
19	chr3:136380655..136383814-chr3:136385853..136389244,3	MCF-7	breast:
20	chr3:136365030..136366947-chr3:136367021..136371094,3	MCF-7	breast:
21	chr3:136389835..136392302-chr3:136408179..136409824,2	MCF-7	breast:
22	chr3:136392044..136394275-chr3:136471067..136473685,2	K562	blood:
23	chr3:136405715..136407497-chr3:136411173..136412850,2	K562	blood:
24	chr3:136371791..136373767-chr3:136377876..136379959,2	MCF-7	breast:
25	chr3:136399125..136401891-chr3:136427700..136429759,2	MCF-7	breast:
26	chr3:136380655..136383814-chr3:136385853..136389244,3	MCF-7	breast:
27	chr3:136389835..136392302-chr3:136408179..136409824,2	MCF-7	breast:
28	chr3:136362757..136364544-chr3:136367826..136369357,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000118007	chromatin interactions
ENSG00000261758	chromatin interactions

Extended variants
information (count: 2397 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2397 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7646723	chr3:136364511-136364512	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541655530	chr3:136364535-136364536	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs532367600	chr3:136364539-136364540	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs561923012	chr3:136364567-136364568	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs552164874	chr3:136364576-136364577	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs575405544	chr3:136364637-136364638	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112063043	chr3:136364641-136364642	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs563313427	chr3:136364665-136364666	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs115059544	chr3:136364725-136364726	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs191754727	chr3:136364739-136364740	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559414413	chr3:136364749-136364750	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs183602606	chr3:136364767-136364768	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs548450020	chr3:136364776-136364777	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs28390205	chr3:136364850-136364851	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs551318507	chr3:136364855-136364856	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs145068006	chr3:136364856-136364857	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571191634	chr3:136364912-136364913	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs539429132	chr3:136364919-136364920	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs185812480	chr3:136364933-136364934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs190332256	chr3:136365036-136365037	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs138811245	chr3:136365050-136365051	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs116463502	chr3:136365062-136365063	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs555233739	chr3:136365066-136365067	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs59931907	chr3:136365097-136365098	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544028734	chr3:136365113-136365114	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs557616590	chr3:136365137-136365138	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs182561541	chr3:136365180-136365181	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs559716178	chr3:136365215-136365216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545792809	chr3:136365348-136365349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559702585	chr3:136365357-136365358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554102250	chr3:136365371-136365372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186832037	chr3:136365396-136365397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542324963	chr3:136365447-136365448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6767889	chr3:136365455-136365456	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs34164990	chr3:136365457-136365458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546436870	chr3:136365462-136365463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531105953	chr3:136365488-136365489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551234779	chr3:136365516-136365517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571157780	chr3:136365531-136365532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533670345	chr3:136365555-136365556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192537392	chr3:136365567-136365568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547724632	chr3:136365620-136365621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535171250	chr3:136365678-136365679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555416251	chr3:136365701-136365702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1298459	chr3:136365702-136365703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537642068	chr3:136365748-136365749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557579769	chr3:136365750-136365751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577471618	chr3:136365764-136365765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540149698	chr3:136365813-136365814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553058287	chr3:136365818-136365819	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
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1032 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136336200-136364800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr3:136347200-136368400	Weak transcription	Fetal Intestine Small	intestine
3	chr3:136347600-136367200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:136348200-136365000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr3:136348600-136364600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:136348800-136373600	Weak transcription	Thymus	Thymus
7	chr3:136349800-136372400	Weak transcription	Dnd41	blood
8	chr3:136350600-136372200	Weak transcription	Primary T cells from cord blood	blood
9	chr3:136351600-136364600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr3:136351600-136364800	Weak transcription	Pancreas	Pancrea
11	chr3:136351600-136376200	Weak transcription	Esophagus	oesophagus
12	chr3:136351800-136364600	Weak transcription	Right Ventricle	heart
13	chr3:136352400-136371600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:136352400-136371600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:136352400-136371800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:136356000-136364600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:136357800-136368200	Weak transcription	Lung	lung
18	chr3:136357800-136387400	Weak transcription	Fetal Thymus	thymus
19	chr3:136361400-136366200	Weak transcription	Fetal Stomach	stomach
20	chr3:136361800-136364600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:136362000-136364800	Weak transcription	K562	blood
22	chr3:136363600-136365000	Enhancers	Ovary	ovary
23	chr3:136363600-136365200	Enhancers	Psoas Muscle	Psoas
24	chr3:136363600-136365400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr3:136364000-136364600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:136364000-136365000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:136364000-136365000	Enhancers	Small Intestine	intestine
28	chr3:136364000-136366200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr3:136364200-136364600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:136364200-136365200	Flanking Active TSS	GM12878-XiMat	blood
31	chr3:136364200-136368000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr3:136364400-136364800	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr3:136364400-136369400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr3:136364600-136364800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:136364600-136364800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:136364600-136364800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr3:136364600-136365000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr3:136364600-136365000	Enhancers	Gastric	stomach
39	chr3:136364600-136365200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr3:136364600-136365200	Enhancers	Right Ventricle	heart
41	chr3:136364600-136371800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:136364800-136365000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr3:136364800-136365200	Enhancers	Primary B cells from peripheral blood	blood
44	chr3:136364800-136365200	Enhancers	Pancreas	Pancrea
45	chr3:136364800-136365200	Enhancers	K562	blood
46	chr3:136364800-136368000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr3:136364800-136372200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr3:136364800-136377800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:136365000-136365200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr3:136365000-136370000	Weak transcription	Ovary	ovary

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