Variant report

Variant	esv3410870
Chromosome Location	chr3:194831169-194831299
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	chr3:194828404..194831478-chr3:194832596..194835567,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACAP2-3	chr3:194831292-194831678	NONHSAT094141

Extended variants
information (count: 15 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139873086	chr3:194831177-194831178	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373688293	chr3:194831178-194831179	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115050954	chr3:194831187-194831188	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114819090	chr3:194831188-194831189	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200068091	chr3:194831202-194831203	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs201404628	chr3:194831207-194831208	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs201195477	chr3:194831208-194831209	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs202243084	chr3:194831213-194831214	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs201335381	chr3:194831228-194831229	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs111212018	chr3:194831231-194831232	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs200027157	chr3:194831266-194831267	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs539687748	chr3:194831270-194831271	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs558230057	chr3:194831275-194831276	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs202244067	chr3:194831278-194831279	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114043556	chr3:194831279-194831280	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS	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:112 , 50 per page) page: 1 2 3

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	chr3:194824000-194838800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:194825800-194838400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:194826600-194835800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:194826800-194838600	Weak transcription	Hela-S3	cervix
9	chr3:194827200-194831200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:194827200-194831200	Weak transcription	Lung	lung
11	chr3:194827200-194831800	Weak transcription	GM12878-XiMat	blood
12	chr3:194827200-194838800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:194827200-194838800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:194827400-194831200	Weak transcription	Esophagus	oesophagus
15	chr3:194827400-194833400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:194827400-194838400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:194827400-194853600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:194827400-194861200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:194827600-194831200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:194827600-194831200	Weak transcription	Pancreas	Pancrea
21	chr3:194827600-194831200	Weak transcription	Right Atrium	heart
22	chr3:194827600-194831200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:194827600-194831200	Weak transcription	Spleen	Spleen
24	chr3:194827600-194831400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:194827600-194831800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:194827600-194833400	Weak transcription	Ovary	ovary
27	chr3:194827600-194834000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr3:194827600-194834400	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:194827600-194838000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr3:194827600-194838000	Weak transcription	NH-A	brain
31	chr3:194827600-194838600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:194827600-194838600	Weak transcription	Stomach Mucosa	stomach
33	chr3:194827600-194839200	Weak transcription	Psoas Muscle	Psoas
34	chr3:194827600-194840000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:194827600-194840200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:194827600-194840800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:194827600-194841200	Weak transcription	Brain Anterior Caudate	brain
38	chr3:194827600-194841200	Weak transcription	Brain Substantia Nigra	brain
39	chr3:194827800-194831200	Weak transcription	Adipose Nuclei	Adipose
40	chr3:194827800-194831200	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:194827800-194831200	Weak transcription	Fetal Muscle Leg	muscle
42	chr3:194827800-194831200	Weak transcription	NHDF-Ad	bronchial
43	chr3:194827800-194831400	Weak transcription	Fetal Intestine Small	intestine
44	chr3:194827800-194831400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr3:194827800-194831600	Weak transcription	Placenta	Placenta
46	chr3:194827800-194833200	Weak transcription	Fetal Brain Female	brain
47	chr3:194827800-194834400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:194827800-194836800	Weak transcription	Fetal Heart	heart
49	chr3:194827800-194840000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:194827800-194840000	Weak transcription	Brain Angular Gyrus	brain

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