Variant report

Variant	nsv592135
Chromosome Location	chr3:160682500-160689164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160685063..160687568-chr3:161087715..161090731,3	MCF-7	breast:
2	chr3:160683839..160685876-chr3:160685916..160688095,2	K562	blood:
3	chr3:160683839..160685876-chr3:160685916..160688095,2	K562	blood:
4	chr3:160680508..160683340-chr3:160683641..160685438,2	MCF-7	breast:
5	chr3:160680508..160683340-chr3:160683641..160685438,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196542	chromatin interactions

Extended variants
information (count: 241 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1868109	chr3:160682500-160682501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547471987	chr3:160682526-160682527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375526123	chr3:160682595-160682596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11709802	chr3:160682599-160682600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs115516169	chr3:160682600-160682601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190583735	chr3:160682618-160682619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180817720	chr3:160682619-160682620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185454502	chr3:160682623-160682624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372069184	chr3:160682627-160682628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572404505	chr3:160682635-160682636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539884914	chr3:160682650-160682651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144739274	chr3:160682664-160682665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573710843	chr3:160682699-160682700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114633880	chr3:160682713-160682714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545329832	chr3:160682770-160682771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531494553	chr3:160682802-160682803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112833956	chr3:160682819-160682820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181282185	chr3:160682849-160682850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185926129	chr3:160682888-160682889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547803768	chr3:160682905-160682906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375567864	chr3:160682928-160682929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530232467	chr3:160682970-160682971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560944423	chr3:160682979-160682980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549970620	chr3:160682995-160682996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191788926	chr3:160683012-160683013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538895814	chr3:160683016-160683017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552347270	chr3:160683041-160683042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138387672	chr3:160683073-160683074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534987407	chr3:160683195-160683196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553753615	chr3:160683201-160683202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573523588	chr3:160683202-160683203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9813700	chr3:160683279-160683280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs556247200	chr3:160683377-160683378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374661903	chr3:160683417-160683418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143885469	chr3:160683445-160683446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34601570	chr3:160683447-160683448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545263684	chr3:160683470-160683471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546594056	chr3:160683485-160683486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183618910	chr3:160683508-160683509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188964038	chr3:160683556-160683557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192072033	chr3:160683590-160683591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114627633	chr3:160683601-160683602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529999516	chr3:160683652-160683653	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571118111	chr3:160683654-160683655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550248548	chr3:160683683-160683684	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563485083	chr3:160683690-160683691	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144892440	chr3:160683708-160683709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182087794	chr3:160683737-160683738	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76490626	chr3:160683752-160683753	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552384201	chr3:160683768-160683769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160667400-160696000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:160670200-160686600	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:160670400-160686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:160670400-160700400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:160678400-160697600	Weak transcription	Primary T cells from cord blood	blood
6	chr3:160679000-160686600	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:160680000-160683600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:160680000-160684400	Weak transcription	Dnd41	blood
9	chr3:160681000-160686600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:160681600-160684800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:160682400-160686600	Weak transcription	Left Ventricle	heart
12	chr3:160683600-160684800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:160683800-160687000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:160684400-160684600	ZNF genes & repeats	Dnd41	blood
15	chr3:160684400-160685200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:160684600-160685400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:160684600-160689200	Weak transcription	Dnd41	blood
18	chr3:160684800-160685400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr3:160685200-160686800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:160685400-160686800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:160685400-160687000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:160686400-160687000	Enhancers	Psoas Muscle	Psoas
23	chr3:160686400-160687200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr3:160686600-160687000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr3:160686600-160687000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:160686600-160687000	Enhancers	Adipose Nuclei	Adipose
27	chr3:160686600-160687000	Enhancers	Colon Smooth Muscle	Colon
28	chr3:160686600-160687000	Enhancers	Left Ventricle	heart
29	chr3:160686600-160687200	Enhancers	Fetal Brain Female	brain
30	chr3:160686600-160687200	Enhancers	Fetal Muscle Leg	muscle
31	chr3:160686600-160687200	Enhancers	Stomach Smooth Muscle	stomach
32	chr3:160686600-160687400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr3:160686600-160687400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr3:160686600-160687600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:160686600-160687600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:160686600-160687600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:160686800-160687000	Enhancers	Right Ventricle	heart
38	chr3:160686800-160687200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr3:160686800-160687600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:160686800-160687600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:160686800-160688000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr3:160687000-160687400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr3:160687000-160687600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr3:160687000-160687600	Enhancers	Primary hematopoietic stem cells	blood
45	chr3:160687000-160687600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr3:160687000-160691000	Weak transcription	Colon Smooth Muscle	Colon
47	chr3:160687000-160696600	Weak transcription	Right Ventricle	heart
48	chr3:160687000-160698600	Weak transcription	Adipose Nuclei	Adipose
49	chr3:160687200-160688200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr3:160687400-160688000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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