Variant report

Variant	esv3333551
Chromosome Location	chr3:194830488-194831074
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	chr3:194827712..194831083-chr3:194838703..194842904,3	K562	blood:
2	chr3:194828404..194831478-chr3:194832596..194835567,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACAP2-3	chr3:194830691-194830791	NONHSAT094141

Extended variants
information (count: 55 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377743051	chr3:194830492-194830493	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370212179	chr3:194830493-194830494	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554307003	chr3:194830496-194830497	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs58906944	chr3:194830503-194830504	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs59859412	chr3:194830521-194830522	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59185550	chr3:194830537-194830538	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61726091	chr3:194830547-194830548	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61724775	chr3:194830557-194830558	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61724285	chr3:194830563-194830564	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61726090	chr3:194830565-194830566	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115429352	chr3:194830585-194830586	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61724335	chr3:194830594-194830595	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61721865	chr3:194830600-194830601	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61722431	chr3:194830607-194830608	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111215211	chr3:194830612-194830613	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539916793	chr3:194830617-194830618	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61724843	chr3:194830620-194830621	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61721309	chr3:194830622-194830623	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61727811	chr3:194830628-194830629	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564670247	chr3:194830650-194830651	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576423021	chr3:194830656-194830657	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543854025	chr3:194830665-194830666	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111067013	chr3:194830670-194830671	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555126464	chr3:194830695-194830696	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs536459515	chr3:194830703-194830704	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs529961575	chr3:194830715-194830716	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs548204033	chr3:194830717-194830718	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs111067014	chr3:194830762-194830763	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs527511644	chr3:194830769-194830770	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs202090516	chr3:194830770-194830771	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs374301709	chr3:194830799-194830800	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373194002	chr3:194830827-194830828	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199689690	chr3:194830836-194830837	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367889415	chr3:194830843-194830844	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552694980	chr3:194830846-194830847	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576288059	chr3:194830851-194830852	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558419018	chr3:194830855-194830856	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372028404	chr3:194830865-194830866	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200832167	chr3:194830879-194830880	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200764842	chr3:194830902-194830903	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571004138	chr3:194830909-194830910	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115901759	chr3:194830993-194830994	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201801649	chr3:194831001-194831002	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199891667	chr3:194831002-194831003	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369138302	chr3:194831013-194831014	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116294815	chr3:194831037-194831038	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114911167	chr3:194831038-194831039	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115467729	chr3:194831046-194831047	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111215266	chr3:194831050-194831051	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561073733	chr3:194831052-194831053	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Autosomal-dominant optic trophy	21036400	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194817200-194831200	Weak transcription	Gastric	stomach
2	chr3:194822000-194846600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:194823600-194831200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:194823800-194833200	Weak transcription	HSMM	muscle
5	chr3:194824000-194831000	Weak transcription	HSMMtube	muscle
6	chr3:194824000-194838800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:194825800-194838400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:194826600-194835800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:194826800-194838600	Weak transcription	Hela-S3	cervix
10	chr3:194827200-194831200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:194827200-194831200	Weak transcription	Lung	lung
12	chr3:194827200-194831800	Weak transcription	GM12878-XiMat	blood
13	chr3:194827200-194838800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:194827200-194838800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr3:194827400-194831200	Weak transcription	Esophagus	oesophagus
16	chr3:194827400-194833400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:194827400-194838400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:194827400-194853600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:194827400-194861200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:194827600-194830800	Weak transcription	Right Ventricle	heart
21	chr3:194827600-194830800	Weak transcription	NHEK	skin
22	chr3:194827600-194831000	Weak transcription	Thymus	Thymus
23	chr3:194827600-194831200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:194827600-194831200	Weak transcription	Pancreas	Pancrea
25	chr3:194827600-194831200	Weak transcription	Right Atrium	heart
26	chr3:194827600-194831200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:194827600-194831200	Weak transcription	Spleen	Spleen
28	chr3:194827600-194831400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr3:194827600-194831800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:194827600-194833400	Weak transcription	Ovary	ovary
31	chr3:194827600-194834000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr3:194827600-194834400	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:194827600-194838000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:194827600-194838000	Weak transcription	NH-A	brain
35	chr3:194827600-194838600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:194827600-194838600	Weak transcription	Stomach Mucosa	stomach
37	chr3:194827600-194839200	Weak transcription	Psoas Muscle	Psoas
38	chr3:194827600-194840000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr3:194827600-194840200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr3:194827600-194840800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:194827600-194841200	Weak transcription	Brain Anterior Caudate	brain
42	chr3:194827600-194841200	Weak transcription	Brain Substantia Nigra	brain
43	chr3:194827800-194831200	Weak transcription	Adipose Nuclei	Adipose
44	chr3:194827800-194831200	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:194827800-194831200	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:194827800-194831200	Weak transcription	NHDF-Ad	bronchial
47	chr3:194827800-194831400	Weak transcription	Fetal Intestine Small	intestine
48	chr3:194827800-194831400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr3:194827800-194831600	Weak transcription	Placenta	Placenta
50	chr3:194827800-194833200	Weak transcription	Fetal Brain Female	brain

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