Variant report

Variant	nsv980114
Chromosome Location	chr3:121413547-121415961
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	chr3:121410605..121412788-chr3:121413603..121415735,2	MCF-7	breast:

Extended variants
information (count: 111 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572606581	chr3:121413557-121413558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202244897	chr3:121413629-121413630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150898120	chr3:121413631-121413632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34833153	chr3:121413637-121413638	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370926720	chr3:121413639-121413640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369883940	chr3:121413667-121413668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375644055	chr3:121413669-121413670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149565740	chr3:121413723-121413724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367925233	chr3:121413735-121413736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375073551	chr3:121413769-121413770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147233707	chr3:121413820-121413821	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577953762	chr3:121413930-121413931	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs543391072	chr3:121413931-121413932	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs140841090	chr3:121413944-121413945	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs563389819	chr3:121413945-121413946	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs144687901	chr3:121413951-121413952	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs147414277	chr3:121413998-121413999	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs531438058	chr3:121414000-121414001	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs148721480	chr3:121414012-121414013	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs200579291	chr3:121414021-121414022	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs200203855	chr3:121414047-121414048	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs374186105	chr3:121414052-121414053	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs1127412	chr3:121414061-121414062	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs151007451	chr3:121414090-121414091	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs547309448	chr3:121414101-121414102	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs570736656	chr3:121414118-121414119	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs140861121	chr3:121414165-121414166	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs35674179	chr3:121414217-121414218	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs368626964	chr3:121414231-121414232	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372673093	chr3:121414263-121414264	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376709173	chr3:121414275-121414276	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146656462	chr3:121414305-121414306	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201169960	chr3:121414306-121414307	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111843273	chr3:121414316-121414317	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115775800	chr3:121414325-121414326	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538286924	chr3:121414338-121414339	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537556767	chr3:121414349-121414350	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371277765	chr3:121414378-121414379	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145328137	chr3:121414409-121414410	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138905217	chr3:121414457-121414458	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181351912	chr3:121414469-121414470	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572731739	chr3:121414501-121414502	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566108388	chr3:121414532-121414533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142305255	chr3:121414534-121414535	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376146805	chr3:121414651-121414652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557958522	chr3:121414667-121414668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143743397	chr3:121414678-121414679	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577914240	chr3:121414682-121414683	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs199972479	chr3:121414729-121414730	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148168566	chr3:121414735-121414736	Weak transcription Strong transcription Enhancers	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
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
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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121380600-121413800	Weak transcription	Stomach Mucosa	stomach
2	chr3:121386600-121447200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:121396800-121435600	Weak transcription	Psoas Muscle	Psoas
4	chr3:121399000-121415400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:121399000-121425400	Weak transcription	Pancreas	Pancrea
6	chr3:121399000-121426400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:121399000-121440400	Weak transcription	K562	blood
8	chr3:121399200-121416800	Weak transcription	Fetal Stomach	stomach
9	chr3:121401200-121416800	Weak transcription	Spleen	Spleen
10	chr3:121401200-121429400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:121401200-121434000	Weak transcription	Gastric	stomach
12	chr3:121403800-121414600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr3:121404000-121432800	Weak transcription	Brain Angular Gyrus	brain
14	chr3:121407400-121429400	Weak transcription	Esophagus	oesophagus
15	chr3:121408200-121417400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:121408200-121422400	Strong transcription	Placenta	Placenta
17	chr3:121408200-121428400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:121408400-121421000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:121408400-121421600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:121408600-121413800	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:121408600-121414000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr3:121408600-121414000	Strong transcription	NH-A	brain
23	chr3:121408600-121414600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:121408600-121414600	Strong transcription	Liver	Liver
25	chr3:121408600-121414800	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:121408600-121417600	Strong transcription	Fetal Brain Female	brain
27	chr3:121408600-121417600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr3:121408600-121417800	Strong transcription	HSMMtube	muscle
29	chr3:121408600-121418200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:121408600-121420400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:121408600-121421400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr3:121408600-121421600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:121408600-121421600	Strong transcription	Primary T cells from cord blood	blood
34	chr3:121408600-121421800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr3:121408600-121421800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:121408600-121422800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:121408600-121424600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:121408600-121424800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:121408600-121424800	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr3:121408600-121427400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:121408600-121428200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr3:121408800-121415800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:121408800-121422800	Strong transcription	Primary B cells from cord blood	blood
44	chr3:121408800-121424800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:121409000-121414400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr3:121409000-121418400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:121409000-121421800	Strong transcription	HSMM	muscle
48	chr3:121409200-121413800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr3:121409400-121414800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:121409600-121414400	Strong transcription	HMEC	breast

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