Variant report

Variant	nsv963283
Chromosome Location	chr3:157183446-157186979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:157181063..157183847-chr3:157192329..157195122,2	MCF-7	breast:
2	chr3:157175083..157179044-chr3:157180593..157185169,5	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183487288	chr3:157183495-157183496	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187055533	chr3:157183524-157183525	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528126963	chr3:157183586-157183587	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191869987	chr3:157183612-157183613	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567880133	chr3:157183622-157183623	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148166416	chr3:157183648-157183649	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141120248	chr3:157183653-157183654	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569101864	chr3:157183666-157183667	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373999880	chr3:157183692-157183693	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16827690	chr3:157183758-157183759	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs375701904	chr3:157183778-157183779	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150235520	chr3:157183779-157183780	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577173178	chr3:157183902-157183903	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535097469	chr3:157183903-157183904	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79159993	chr3:157183943-157183944	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539939582	chr3:157184003-157184004	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575070875	chr3:157184012-157184013	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114752239	chr3:157184073-157184074	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74854224	chr3:157184084-157184085	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375829645	chr3:157184113-157184114	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183724190	chr3:157184162-157184163	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11709669	chr3:157184177-157184178	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563897546	chr3:157184192-157184193	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550766509	chr3:157184211-157184212	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1378801	chr3:157184238-157184239	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546271601	chr3:157184243-157184244	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561471851	chr3:157184269-157184270	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529048675	chr3:157184289-157184290	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550399165	chr3:157184327-157184328	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569044161	chr3:157184354-157184355	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561424639	chr3:157184372-157184373	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79528106	chr3:157184400-157184401	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114496017	chr3:157184492-157184493	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369801214	chr3:157184495-157184496	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535053726	chr3:157184530-157184531	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553481659	chr3:157184551-157184552	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1456112	chr3:157184616-157184617	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs79620946	chr3:157184689-157184690	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376888427	chr3:157184691-157184692	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557225257	chr3:157184713-157184714	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575814880	chr3:157184797-157184798	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529860560	chr3:157184805-157184806	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567550273	chr3:157184806-157184807	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535160206	chr3:157184833-157184834	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76858635	chr3:157184857-157184858	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553176797	chr3:157184901-157184902	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200267099	chr3:157184912-157184913	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117993645	chr3:157184914-157184915	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375339624	chr3:157184915-157184916	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs57109409	chr3:157184939-157184940	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157160400-157195000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:157161200-157186600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:157164600-157185400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:157170200-157187000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:157179400-157184800	Weak transcription	HSMM	muscle
6	chr3:157180200-157186000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:157180400-157185400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:157180800-157186000	Enhancers	NHDF-Ad	bronchial
9	chr3:157181000-157186400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:157181200-157184400	Enhancers	NHLF	lung
11	chr3:157181400-157183800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:157181400-157183800	Genic enhancers	HUVEC	blood vessel
13	chr3:157181600-157183600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:157182200-157185400	Weak transcription	Lung	lung
15	chr3:157182400-157184600	Weak transcription	NH-A	brain
16	chr3:157182400-157185000	Weak transcription	HSMMtube	muscle
17	chr3:157182600-157184600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr3:157182800-157184600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:157182800-157190400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr3:157183000-157185400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:157183000-157188400	Weak transcription	Fetal Stomach	stomach
22	chr3:157183200-157184800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:157183400-157183600	Genic enhancers	Osteobl	bone
24	chr3:157183600-157184600	Strong transcription	Osteobl	bone
25	chr3:157183600-157184800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:157183800-157184600	Weak transcription	HUVEC	blood vessel
27	chr3:157183800-157184800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:157184200-157187000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr3:157184400-157184800	Weak transcription	NHLF	lung
30	chr3:157184400-157185600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr3:157184400-157190400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:157184600-157185000	Genic enhancers	NH-A	brain
33	chr3:157184600-157185800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr3:157184600-157186000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:157184600-157186000	Genic enhancers	Osteobl	bone
36	chr3:157184600-157186200	Genic enhancers	HUVEC	blood vessel
37	chr3:157184800-157185000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:157184800-157185600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:157184800-157185600	Enhancers	HSMM	muscle
40	chr3:157184800-157186000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:157184800-157186000	Enhancers	NHLF	lung
42	chr3:157185000-157185400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:157185000-157185600	Enhancers	HSMMtube	muscle
44	chr3:157185000-157185600	Enhancers	NH-A	brain
45	chr3:157185400-157185600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:157185400-157185600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:157185400-157185600	Enhancers	Adipose Nuclei	Adipose
48	chr3:157185400-157185600	Enhancers	Lung	lung
49	chr3:157185400-157185800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:157185400-157187200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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