Variant report

Variant	nsv822416
Chromosome Location	chr3:196202865-196205192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196202903..196205683-chr3:196207751..196209583,2	K562	blood:
2	chr3:196204324..196206909-chr3:196213007..196215218,2	K562	blood:
3	chr3:196200904..196203106-chr3:196242169..196245085,2	K562	blood:
4	chr3:196197868..196200797-chr3:196203999..196206906,2	K562	blood:

Variant related genes	Relation type
ENSG00000214097	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574375074	chr3:196202876-196202877	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs372987604	chr3:196202880-196202881	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560881500	chr3:196202888-196202889	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184958256	chr3:196202892-196202893	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546446070	chr3:196202903-196202904	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564693102	chr3:196202918-196202919	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531806550	chr3:196202949-196202950	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs4916498	chr3:196202961-196202962	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs13324149	chr3:196203029-196203030	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529337849	chr3:196203030-196203031	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200041753	chr3:196203099-196203100	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189754716	chr3:196203188-196203189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56867889	chr3:196203193-196203194	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533719390	chr3:196203214-196203215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528641741	chr3:196203220-196203221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181859395	chr3:196203247-196203248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542436500	chr3:196203259-196203260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6788104	chr3:196203266-196203267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140992945	chr3:196203283-196203284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185925702	chr3:196203310-196203311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188818930	chr3:196203344-196203345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142740179	chr3:196203476-196203477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144507864	chr3:196203502-196203503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181876907	chr3:196203507-196203508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549862367	chr3:196203555-196203556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545602581	chr3:196203567-196203568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73213997	chr3:196203589-196203590	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148394012	chr3:196203592-196203593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142516625	chr3:196203594-196203595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554173688	chr3:196203606-196203607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114546374	chr3:196203610-196203611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529259119	chr3:196203617-196203618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377410955	chr3:196203629-196203630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532687396	chr3:196203643-196203644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34196595	chr3:196203668-196203669	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140181306	chr3:196203675-196203676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186091221	chr3:196203684-196203685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143945920	chr3:196203712-196203713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146841470	chr3:196203718-196203719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140677558	chr3:196203768-196203769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549594387	chr3:196203772-196203773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150001805	chr3:196203794-196203795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535218610	chr3:196203810-196203811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553768376	chr3:196203830-196203831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145254983	chr3:196203871-196203872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540092135	chr3:196203908-196203909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370823681	chr3:196203912-196203913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149127406	chr3:196203919-196203920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190975562	chr3:196203978-196203979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12635457	chr3:196203979-196203980	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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	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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196182200-196213600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:196191800-196216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:196193400-196209400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr3:196193600-196214600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:196194200-196215000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:196194200-196217400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr3:196194400-196211200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:196194400-196216600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:196194600-196214600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:196194600-196214800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:196194600-196215800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:196194800-196215000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:196195000-196214800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:196195200-196215200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:196195400-196214800	Strong transcription	Liver	Liver
16	chr3:196195400-196215600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr3:196195600-196214400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:196195600-196215000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:196195800-196214800	Strong transcription	Dnd41	blood
20	chr3:196196000-196205400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:196196800-196207200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:196196800-196208000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:196196800-196214600	Strong transcription	Fetal Stomach	stomach
24	chr3:196196800-196214800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:196196800-196217000	Strong transcription	Fetal Intestine Small	intestine
26	chr3:196197000-196216800	Strong transcription	GM12878-XiMat	blood
27	chr3:196197000-196220000	Weak transcription	Stomach Mucosa	stomach
28	chr3:196197200-196214800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr3:196197200-196223800	Strong transcription	Fetal Thymus	thymus
30	chr3:196197400-196214600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:196197400-196214600	Strong transcription	Thymus	Thymus
32	chr3:196197600-196203800	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:196197600-196214800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr3:196197600-196215000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:196198200-196204800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:196198200-196205400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:196198200-196205400	Strong transcription	NH-A	brain
38	chr3:196198200-196205800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr3:196198200-196214800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:196198200-196215000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr3:196198200-196215000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:196198200-196215000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr3:196198400-196205400	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr3:196198400-196214600	Strong transcription	Left Ventricle	heart
45	chr3:196198400-196215000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:196199000-196209200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:196199200-196205600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:196199200-196209800	Weak transcription	Colon Smooth Muscle	Colon
49	chr3:196199400-196209000	Weak transcription	A549	lung
50	chr3:196199400-196227000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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