Variant report

Variant	nsv967045
Chromosome Location	chr3:101075131-101077983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:101077676-101077788	K562	blood:	n/a	n/a
2	STAT3	chr3:101076529-101076608	MCF10A-Er-Src	breast:	n/a	n/a
3	ZNF274	chr3:101076798-101077250	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF274	chr3:101076468-101077423	K562	blood:	n/a	n/a
5	ZNF274	chr3:101076855-101077845	GM08714	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RG9MTD1-4	chr3:101076136-101078086	NONHSAT090889

Variant related genes	Relation type
ZNF90P1	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201289649	chr3:101075156-101075157	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147884157	chr3:101075157-101075158	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569303161	chr3:101075158-101075159	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369383490	chr3:101075265-101075266	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529437107	chr3:101075286-101075287	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559120380	chr3:101075331-101075332	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551130252	chr3:101075373-101075374	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569151217	chr3:101075417-101075418	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369386788	chr3:101075424-101075425	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539742754	chr3:101075425-101075426	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560244660	chr3:101075430-101075431	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551663419	chr3:101075465-101075466	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6786031	chr3:101075480-101075481	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs6801150	chr3:101075499-101075500	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs59131372	chr3:101075624-101075625	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183450648	chr3:101075628-101075629	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537989455	chr3:101075660-101075661	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557183399	chr3:101075686-101075687	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575555150	chr3:101075687-101075688	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546072512	chr3:101075718-101075719	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558092659	chr3:101075851-101075852	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572712611	chr3:101075865-101075866	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139934656	chr3:101075876-101075877	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561555892	chr3:101075895-101075896	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187527970	chr3:101075897-101075898	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111471738	chr3:101075905-101075906	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543952209	chr3:101075906-101075907	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191291025	chr3:101075914-101075915	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376693571	chr3:101075934-101075935	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368772441	chr3:101075956-101075957	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551626864	chr3:101075978-101075979	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567176215	chr3:101076004-101076005	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56391040	chr3:101076012-101076013	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558766229	chr3:101076037-101076038	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112176278	chr3:101076048-101076049	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549344006	chr3:101076049-101076050	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567592348	chr3:101076055-101076056	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183874911	chr3:101076064-101076065	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187707120	chr3:101076086-101076087	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569032538	chr3:101076125-101076126	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539657771	chr3:101076134-101076135	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577231342	chr3:101076135-101076136	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144861763	chr3:101076136-101076137	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs192552073	chr3:101076152-101076153	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs372960307	chr3:101076228-101076229	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs555340669	chr3:101076274-101076275	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs573559895	chr3:101076285-101076286	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs562552611	chr3:101076286-101076287	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs543865956	chr3:101076293-101076294	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs3209059	chr3:101076304-101076305	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101030800-101096400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:101038600-101101800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:101038800-101089800	Weak transcription	Pancreas	Pancrea
4	chr3:101039800-101106600	Weak transcription	Thymus	Thymus
5	chr3:101040600-101086800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:101040800-101076000	Weak transcription	Esophagus	oesophagus
7	chr3:101040800-101090000	Weak transcription	Brain Angular Gyrus	brain
8	chr3:101042800-101089600	Weak transcription	NH-A	brain
9	chr3:101043200-101076000	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:101043200-101105000	Weak transcription	Brain Anterior Caudate	brain
11	chr3:101043800-101096600	Weak transcription	Brain Substantia Nigra	brain
12	chr3:101044400-101103000	Weak transcription	Gastric	stomach
13	chr3:101044600-101076000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:101044600-101081800	Weak transcription	Aorta	Aorta
15	chr3:101044800-101079800	Weak transcription	Spleen	Spleen
16	chr3:101045800-101110800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:101046400-101076200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr3:101046400-101089000	Weak transcription	Fetal Brain Male	brain
19	chr3:101046800-101076000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:101046800-101076200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:101047200-101076200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:101047400-101096000	Weak transcription	Psoas Muscle	Psoas
23	chr3:101048400-101075800	Weak transcription	Fetal Intestine Small	intestine
24	chr3:101048400-101076600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:101048400-101082400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:101048400-101084400	Weak transcription	HSMM	muscle
27	chr3:101048600-101088000	Weak transcription	HUVEC	blood vessel
28	chr3:101049200-101096000	Weak transcription	Ovary	ovary
29	chr3:101049200-101102200	Weak transcription	Right Ventricle	heart
30	chr3:101053200-101082600	Weak transcription	Fetal Stomach	stomach
31	chr3:101053200-101083200	Weak transcription	K562	blood
32	chr3:101054600-101085000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:101055800-101076000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:101056200-101076000	Weak transcription	Lung	lung
35	chr3:101056200-101081600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr3:101056200-101082600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr3:101056200-101082800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr3:101056200-101084600	Weak transcription	Fetal Heart	heart
39	chr3:101058200-101081800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:101059800-101082800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr3:101061600-101076000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:101062200-101075800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:101062600-101079200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:101062800-101076000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:101063000-101079200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr3:101063200-101075800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr3:101064000-101075800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:101066000-101089800	Weak transcription	Brain Germinal Matrix	brain
49	chr3:101066000-101094000	Weak transcription	Fetal Intestine Large	intestine
50	chr3:101066200-101076000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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