Variant report

Variant	nsv591292
Chromosome Location	chr3:111914624-111993915
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	chr3:111987883..111989746-chr3:111993499..111996170,2	K562	blood:
2	chr2:183179551..183180178-chr3:111918314..111918885,2	MCF-7	breast:
3	chr3:111987883..111989746-chr3:111993499..111996170,2	K562	blood:
4	chr3:111991351..111994279-chr3:111999124..112001304,2	K562	blood:
5	chr3:111916552..111919160-chr3:111921905..111924645,2	K562	blood:
6	chr3:111966492..111967258-chr6:9984662..9985547,2	MCF-7	breast:
7	chr3:111916552..111919160-chr3:111921905..111924645,2	K562	blood:
8	chr3:111993821..111999199-chr3:111999738..112003552,5	K562	blood:

No data

Extended variants
information (count: 2235 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2235 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9871650	chr3:111914624-111914625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182645085	chr3:111914643-111914644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140080049	chr3:111914666-111914667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188859842	chr3:111914669-111914670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544554928	chr3:111914710-111914711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564268194	chr3:111914747-111914748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533188186	chr3:111914783-111914784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192544257	chr3:111914799-111914800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539916095	chr3:111914836-111914837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560216527	chr3:111914925-111914926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150308565	chr3:111914945-111914946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575739371	chr3:111915032-111915033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74377894	chr3:111915044-111915045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183000756	chr3:111915051-111915052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548975438	chr3:111915052-111915053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7625249	chr3:111915091-111915092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs561214932	chr3:111915115-111915116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573094092	chr3:111915168-111915169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs137982165	chr3:111915194-111915195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531467024	chr3:111915217-111915218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570697407	chr3:111915233-111915234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187671918	chr3:111915234-111915235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7647280	chr3:111915239-111915240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs566959158	chr3:111915247-111915248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149060657	chr3:111915273-111915274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373624444	chr3:111915287-111915288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191703160	chr3:111915313-111915314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538114603	chr3:111915320-111915321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9865986	chr3:111915452-111915453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577886299	chr3:111915536-111915537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184295249	chr3:111915569-111915570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559954238	chr3:111915600-111915601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146684293	chr3:111915608-111915609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76400391	chr3:111915627-111915628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189645715	chr3:111915692-111915693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531241701	chr3:111915712-111915713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550826881	chr3:111915750-111915751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139261769	chr3:111915772-111915773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533318177	chr3:111915805-111915806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398082357	chr3:111915815-111915816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397875822	chr3:111915816-111915817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547180782	chr3:111915827-111915828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566991684	chr3:111915866-111915867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535939567	chr3:111915872-111915873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200395293	chr3:111915955-111915956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143287973	chr3:111915960-111915961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377152674	chr3:111916018-111916019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569258348	chr3:111916059-111916060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538266813	chr3:111916124-111916125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558039565	chr3:111916125-111916126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111906200-111918800	Weak transcription	Fetal Heart	heart
2	chr3:111913000-111923200	Weak transcription	Pancreas	Pancrea
3	chr3:111913200-111930000	Weak transcription	Left Ventricle	heart
4	chr3:111913600-111918400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:111915400-111923400	Weak transcription	Aorta	Aorta
6	chr3:111916000-111916400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:111916000-111916600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:111916200-111916400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:111916200-111916400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:111916200-111916600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:111916200-111916800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:111916200-111917200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:111916400-111919000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:111916600-111917000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:111917000-111917400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:111917600-111918000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:111918400-111919000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:111918400-111919000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:111918400-111919000	Enhancers	HMEC	breast
20	chr3:111918600-111921200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:111918800-111919600	Strong transcription	Fetal Heart	heart
22	chr3:111919000-111919200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:111919000-111922600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:111919600-111925200	Weak transcription	Fetal Heart	heart
25	chr3:111920800-111921200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr3:111930000-111930400	Weak transcription	Aorta	Aorta
27	chr3:111930400-111930600	Weak transcription	Left Ventricle	heart
28	chr3:111930600-111930800	ZNF genes & repeats	Aorta	Aorta
29	chr3:111937000-111942800	Weak transcription	Left Ventricle	heart
30	chr3:111939200-111939600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr3:111942400-111952400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:111942800-111943000	ZNF genes & repeats	Gastric	stomach
33	chr3:111942800-111943000	ZNF genes & repeats	Pancreas	Pancrea
34	chr3:111942800-111943200	ZNF genes & repeats	Left Ventricle	heart
35	chr3:111943200-111945200	Weak transcription	Left Ventricle	heart
36	chr3:111945200-111945600	ZNF genes & repeats	Left Ventricle	heart
37	chr3:111945600-111950600	Weak transcription	Left Ventricle	heart
38	chr3:111946800-111948200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:111949000-111949200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr3:111950400-111950600	Active TSS	GM12878-XiMat	blood
41	chr3:111950600-111950800	Flanking Active TSS	GM12878-XiMat	blood
42	chr3:111950800-111951400	Enhancers	GM12878-XiMat	blood
43	chr3:111951000-111951600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:111955600-111955800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr3:111959200-111959600	ZNF genes & repeats	Left Ventricle	heart
46	chr3:111965000-111966200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:111965000-111966400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr3:111965000-111967000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr3:111965400-111965600	Enhancers	GM12878-XiMat	blood
50	chr3:111965400-111966000	Enhancers	Primary B cells from cord blood	blood

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