Variant report

Variant	nsv1007004
Chromosome Location	chr3:160695108-160718154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160716783..160717748-chr3:160814285..160815262,3	MCF-7	breast:
2	chr3:160701391..160703637-chr3:160711563..160713672,2	MCF-7	breast:
3	chr3:160717602..160719198-chr3:160748866..160750938,2	MCF-7	breast:
4	chr3:160701391..160703637-chr3:160711563..160713672,2	MCF-7	breast:

Extended variants
information (count: 837 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:837 , 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	rs6787694	chr3:160695108-160695109	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544421867	chr3:160695117-160695118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188415156	chr3:160695131-160695132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533269520	chr3:160695163-160695164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114482040	chr3:160695183-160695184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560491051	chr3:160695187-160695188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190612813	chr3:160695226-160695227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373143787	chr3:160695265-160695266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183123770	chr3:160695302-160695303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574011234	chr3:160695321-160695322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187823987	chr3:160695326-160695327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376325558	chr3:160695367-160695368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192564209	chr3:160695376-160695377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147104874	chr3:160695384-160695385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534512777	chr3:160695392-160695393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75406323	chr3:160695417-160695418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115467816	chr3:160695433-160695434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541297759	chr3:160695457-160695458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535112126	chr3:160695460-160695461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184332135	chr3:160695498-160695499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575015338	chr3:160695513-160695514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543935284	chr3:160695522-160695523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564315914	chr3:160695576-160695577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187603840	chr3:160695613-160695614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114306218	chr3:160695614-160695615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111782450	chr3:160695646-160695647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192831781	chr3:160695651-160695652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112869583	chr3:160695674-160695675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147724474	chr3:160695688-160695689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552103544	chr3:160695704-160695705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74616312	chr3:160695710-160695711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190148611	chr3:160695722-160695723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375925382	chr3:160695725-160695726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184711498	chr3:160695727-160695728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7624185	chr3:160695770-160695771	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs188730796	chr3:160695771-160695772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551095005	chr3:160695773-160695774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542632208	chr3:160695818-160695819	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs181466957	chr3:160695821-160695822	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs74845279	chr3:160695832-160695833	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs184461033	chr3:160695842-160695843	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs142486856	chr3:160695844-160695845	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs557614788	chr3:160695894-160695895	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs577655950	chr3:160695896-160695897	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs540087578	chr3:160695911-160695912	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs76399520	chr3:160695912-160695913	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs6778357	chr3:160696089-160696090	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542902893	chr3:160696105-160696106	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs562876250	chr3:160696116-160696117	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs531658266	chr3:160696150-160696151	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160667400-160696000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:160670400-160700400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr3:160678400-160697600	Weak transcription	Primary T cells from cord blood	blood
4	chr3:160687000-160696600	Weak transcription	Right Ventricle	heart
5	chr3:160687000-160698600	Weak transcription	Adipose Nuclei	Adipose
6	chr3:160691600-160695200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr3:160691600-160695200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr3:160691600-160695200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:160691600-160695200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:160691600-160695200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr3:160691600-160695600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:160691600-160697800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr3:160695000-160696800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:160695200-160695800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr3:160695200-160696200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:160695200-160696200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:160695200-160698600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr3:160695200-160701400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr3:160695600-160695800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr3:160695800-160696000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr3:160695800-160696200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr3:160695800-160696400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:160696000-160696200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr3:160696000-160696400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:160696000-160697200	Enhancers	Pancreas	Pancrea
26	chr3:160696000-160700000	Enhancers	Primary B cells from cord blood	blood
27	chr3:160696200-160696400	Enhancers	Left Ventricle	heart
28	chr3:160696200-160696400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr3:160696200-160696800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr3:160696200-160698200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:160696200-160698200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:160696200-160700600	Enhancers	Dnd41	blood
33	chr3:160696400-160697000	Weak transcription	Left Ventricle	heart
34	chr3:160696400-160697600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:160696400-160697800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr3:160696800-160697800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:160696800-160697800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:160697000-160697200	Enhancers	Left Ventricle	heart
39	chr3:160697000-160704000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr3:160697200-160710600	Weak transcription	Left Ventricle	heart
41	chr3:160697600-160699600	Enhancers	Primary T cells from cord blood	blood
42	chr3:160697600-160700000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:160697800-160699400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr3:160697800-160699400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr3:160697800-160699400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr3:160697800-160701400	Enhancers	Primary hematopoietic stem cells	blood
47	chr3:160698200-160699400	Enhancers	Fetal Thymus	thymus
48	chr3:160698200-160700800	Enhancers	Primary B cells from peripheral blood	blood
49	chr3:160698200-160700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:160698200-160701000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links