Variant report

Variant	esv3338798
Chromosome Location	chr3:194829713-194832111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194828404..194831478-chr3:194832596..194835567,3	K562	blood:
2	chr3:194827345..194830265-chr3:194841540..194843124,2	K562	blood:
3	chr3:194827712..194831083-chr3:194838703..194842904,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACAP2-3	chr3:194831292-194831678	NONHSAT094141
2	lnc-ACAP2-3	chr3:194830691-194830791	NONHSAT094141

Variant related genes	Relation type
ENSG00000173950	chromatin interactions

Extended variants
information (count: 213 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56268394	chr3:194829717-194829718	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528072827	chr3:194829735-194829736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372456112	chr3:194829750-194829751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546143788	chr3:194829753-194829754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs55980698	chr3:194829770-194829771	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs56180560	chr3:194829809-194829810	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550485614	chr3:194829849-194829850	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568686287	chr3:194829857-194829858	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs56380592	chr3:194829937-194829938	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187632754	chr3:194829976-194829977	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs62290320	chr3:194829982-194829983	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534036309	chr3:194830022-194830023	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs55993159	chr3:194830035-194830036	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577324755	chr3:194830075-194830076	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs117168869	chr3:194830082-194830083	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556930720	chr3:194830102-194830103	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574925238	chr3:194830112-194830113	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574440298	chr3:194830122-194830123	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs66713978	chr3:194830123-194830124	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs55813540	chr3:194830126-194830127	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370725723	chr3:194830127-194830128	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs369601103	chr3:194830131-194830132	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560524996	chr3:194830137-194830138	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372917162	chr3:194830143-194830144	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs66971103	chr3:194830144-194830145	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs56018737	chr3:194830153-194830154	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528149254	chr3:194830165-194830166	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs55947243	chr3:194830180-194830181	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370786343	chr3:194830186-194830187	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564513654	chr3:194830202-194830203	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544626569	chr3:194830208-194830209	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376157411	chr3:194830216-194830217	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532010703	chr3:194830228-194830229	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs145975941	chr3:194830229-194830230	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs56171175	chr3:194830230-194830231	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs397779947	chr3:194830236-194830237	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200026001	chr3:194830243-194830244	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs191198987	chr3:194830261-194830262	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569170278	chr3:194830262-194830263	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs59461746	chr3:194830268-194830269	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150076566	chr3:194830276-194830277	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs60541984	chr3:194830277-194830278	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397709146	chr3:194830287-194830288	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142991054	chr3:194830322-194830323	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs55637665	chr3:194830332-194830333	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs59119424	chr3:194830333-194830334	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs57059511	chr3:194830340-194830341	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72261921	chr3:194830343-194830344	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548316806	chr3:194830345-194830346	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs60295936	chr3:194830346-194830347	Weak transcription Strong transcription ZNF genes & repeats Genic 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:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194815800-194830200	Weak transcription	Primary T cells from cord blood	blood
2	chr3:194816000-194830000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:194817200-194831200	Weak transcription	Gastric	stomach
4	chr3:194822000-194846600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:194823600-194831200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:194823800-194833200	Weak transcription	HSMM	muscle
7	chr3:194824000-194831000	Weak transcription	HSMMtube	muscle
8	chr3:194824000-194838800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:194825400-194830000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:194825400-194830200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:194825400-194830400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:194825800-194830000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:194825800-194838400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:194826600-194835800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:194826800-194838600	Weak transcription	Hela-S3	cervix
16	chr3:194827200-194830200	Weak transcription	NHLF	lung
17	chr3:194827200-194831200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:194827200-194831200	Weak transcription	Lung	lung
19	chr3:194827200-194831800	Weak transcription	GM12878-XiMat	blood
20	chr3:194827200-194838800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:194827200-194838800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr3:194827400-194830400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:194827400-194831200	Weak transcription	Esophagus	oesophagus
24	chr3:194827400-194833400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:194827400-194838400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:194827400-194853600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:194827400-194861200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:194827600-194830000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:194827600-194830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:194827600-194830000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:194827600-194830000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr3:194827600-194830000	Weak transcription	Fetal Brain Male	brain
33	chr3:194827600-194830000	Weak transcription	K562	blood
34	chr3:194827600-194830200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr3:194827600-194830200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:194827600-194830200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:194827600-194830200	Weak transcription	Dnd41	blood
38	chr3:194827600-194830800	Weak transcription	Right Ventricle	heart
39	chr3:194827600-194830800	Weak transcription	NHEK	skin
40	chr3:194827600-194831000	Weak transcription	Thymus	Thymus
41	chr3:194827600-194831200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:194827600-194831200	Weak transcription	Pancreas	Pancrea
43	chr3:194827600-194831200	Weak transcription	Right Atrium	heart
44	chr3:194827600-194831200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr3:194827600-194831200	Weak transcription	Spleen	Spleen
46	chr3:194827600-194831400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr3:194827600-194831800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:194827600-194833400	Weak transcription	Ovary	ovary
49	chr3:194827600-194834000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:194827600-194834400	Weak transcription	Brain Hippocampus Middle	brain

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