Variant report

Variant	nsv980073
Chromosome Location	chr3:121409447-121412574
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: 135 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377347697	chr3:121409472-121409473	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115007023	chr3:121409501-121409502	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187390633	chr3:121409505-121409506	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142286671	chr3:121409523-121409524	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373216640	chr3:121409559-121409560	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569246296	chr3:121409598-121409599	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559925085	chr3:121409606-121409607	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs538258778	chr3:121409615-121409616	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs529043980	chr3:121409629-121409630	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs549478880	chr3:121409643-121409644	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs115378554	chr3:121409654-121409655	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs113939399	chr3:121409683-121409684	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs372655931	chr3:121409690-121409691	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs112497822	chr3:121409704-121409705	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs138695295	chr3:121409712-121409713	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs376943468	chr3:121409720-121409721	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs574983211	chr3:121409763-121409764	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs534072299	chr3:121409766-121409767	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs370580038	chr3:121409785-121409786	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201762769	chr3:121409786-121409787	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs114935750	chr3:121409817-121409818	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200193552	chr3:121409828-121409829	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116823792	chr3:121409832-121409833	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575188763	chr3:121409834-121409835	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543785967	chr3:121409850-121409851	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375250064	chr3:121409852-121409853	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377678243	chr3:121409879-121409880	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78232418	chr3:121409890-121409891	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs137985408	chr3:121409894-121409895	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149476860	chr3:121409895-121409896	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371463845	chr3:121409902-121409903	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142138385	chr3:121409925-121409926	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200564559	chr3:121409978-121409979	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373767982	chr3:121410003-121410004	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116030179	chr3:121410009-121410010	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144795394	chr3:121410065-121410066	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139677008	chr3:121410075-121410076	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143090901	chr3:121410180-121410181	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201201678	chr3:121410188-121410189	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551841076	chr3:121410205-121410206	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371828237	chr3:121410210-121410211	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569556744	chr3:121410230-121410231	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374970487	chr3:121410232-121410233	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201970178	chr3:121410243-121410244	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367872332	chr3:121410260-121410261	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140044519	chr3:121410282-121410283	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532090985	chr3:121410305-121410306	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371984492	chr3:121410352-121410353	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116186804	chr3:121410365-121410366	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568370596	chr3:121410382-121410383	Strong transcription Weak transcription Genic 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:236 , 50 per page) page: 1 2 3 4 5

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	chr3:121396000-121409600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:121396800-121435600	Weak transcription	Psoas Muscle	Psoas
5	chr3:121399000-121409600	Weak transcription	Colonic Mucosa	Colon
6	chr3:121399000-121410000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr3:121399000-121415400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:121399000-121425400	Weak transcription	Pancreas	Pancrea
9	chr3:121399000-121426400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:121399000-121440400	Weak transcription	K562	blood
11	chr3:121399200-121410200	Weak transcription	Thymus	Thymus
12	chr3:121399200-121410600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr3:121399200-121410800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:121399200-121416800	Weak transcription	Fetal Stomach	stomach
15	chr3:121399400-121409800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:121399600-121410000	Weak transcription	Hela-S3	cervix
17	chr3:121400200-121409600	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:121400600-121409600	Weak transcription	Fetal Heart	heart
19	chr3:121400800-121410000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr3:121400800-121410800	Weak transcription	Brain Substantia Nigra	brain
21	chr3:121400800-121411200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:121401000-121409600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:121401000-121409600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:121401200-121409600	Weak transcription	Left Ventricle	heart
25	chr3:121401200-121410200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr3:121401200-121410600	Weak transcription	Fetal Brain Male	brain
27	chr3:121401200-121410800	Weak transcription	Lung	lung
28	chr3:121401200-121416800	Weak transcription	Spleen	Spleen
29	chr3:121401200-121429400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:121401200-121434000	Weak transcription	Gastric	stomach
31	chr3:121401400-121410000	Weak transcription	NHEK	skin
32	chr3:121401800-121409600	Weak transcription	Osteobl	bone
33	chr3:121402000-121409600	Weak transcription	HMEC	breast
34	chr3:121402600-121409800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:121403800-121414600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr3:121404000-121409600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr3:121404000-121409600	Weak transcription	Brain Anterior Caudate	brain
38	chr3:121404000-121409600	Weak transcription	Dnd41	blood
39	chr3:121404000-121410000	Weak transcription	A549	lung
40	chr3:121404000-121432800	Weak transcription	Brain Angular Gyrus	brain
41	chr3:121405800-121410000	Weak transcription	Brain Hippocampus Middle	brain
42	chr3:121406000-121409600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr3:121406000-121410000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr3:121406200-121410200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:121406400-121409800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:121406600-121409800	Weak transcription	NHDF-Ad	bronchial
47	chr3:121407400-121429400	Weak transcription	Esophagus	oesophagus
48	chr3:121408200-121417400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:121408200-121422400	Strong transcription	Placenta	Placenta
50	chr3:121408200-121428400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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