Variant report

Variant	esv3494282
Chromosome Location	chr3:194785924-194787454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194784040..194786855-chr3:194798676..194802052,3	MCF-7	breast:
2	chr3:194784787..194787485-chr3:194789648..194792559,2	K562	blood:
3	chr3:194784048..194788600-chr3:194793923..194797943,5	K562	blood:
4	chr3:194763578..194765560-chr3:194785379..194787030,2	MCF-7	breast:
5	chr3:194784048..194786675-chr3:194793923..194796465,3	K562	blood:
6	chr3:194787100..194789938-chr3:194793885..194796418,2	K562	blood:
7	chr3:194779671..194783276-chr3:194783920..194787237,3	K562	blood:

Extended variants
information (count: 136 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112268531	chr3:194785950-194785951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs67830521	chr3:194785968-194785969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35264519	chr3:194785973-194785974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs72499622	chr3:194785978-194785979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111353375	chr3:194786001-194786002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191587300	chr3:194786002-194786003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370419096	chr3:194786015-194786016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551633418	chr3:194786018-194786019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374026402	chr3:194786034-194786035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570057966	chr3:194786047-194786048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547242744	chr3:194786053-194786054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549398208	chr3:194786054-194786055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201852621	chr3:194786056-194786057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567930437	chr3:194786074-194786075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549607618	chr3:194786077-194786078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367616050	chr3:194786085-194786086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111686169	chr3:194786088-194786089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184467426	chr3:194786089-194786090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535021423	chr3:194786092-194786093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113722948	chr3:194786100-194786101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60209331	chr3:194786108-194786109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560776176	chr3:194786111-194786112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578129803	chr3:194786123-194786124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539516407	chr3:194786129-194786130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200930595	chr3:194786131-194786132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557469968	chr3:194786141-194786142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377257486	chr3:194786144-194786145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189697711	chr3:194786204-194786205	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs57708214	chr3:194786219-194786220	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs62290264	chr3:194786233-194786234	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62290265	chr3:194786242-194786243	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368598957	chr3:194786259-194786260	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561363636	chr3:194786265-194786266	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192880388	chr3:194786270-194786271	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62290266	chr3:194786273-194786274	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202096115	chr3:194786284-194786285	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185231491	chr3:194786291-194786292	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62290267	chr3:194786292-194786293	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372974118	chr3:194786297-194786298	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565227105	chr3:194786302-194786303	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532426237	chr3:194786305-194786306	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188828953	chr3:194786306-194786307	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559799687	chr3:194786308-194786309	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374282497	chr3:194786324-194786325	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114306801	chr3:194786335-194786336	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559497947	chr3:194786342-194786343	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377065309	chr3:194786343-194786344	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551559995	chr3:194786345-194786346	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181876893	chr3:194786357-194786358	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563723258	chr3:194786366-194786367	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194774200-194787400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:194776200-194787800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:194779000-194808000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:194780000-194788800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr3:194780200-194800000	Weak transcription	Right Atrium	heart
6	chr3:194780400-194788600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr3:194780600-194788600	Weak transcription	HUVEC	blood vessel
8	chr3:194780600-194788800	Weak transcription	Lung	lung
9	chr3:194781000-194788600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:194781000-194789400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:194781000-194808000	Weak transcription	Colonic Mucosa	Colon
12	chr3:194781600-194786200	Enhancers	Fetal Stomach	stomach
13	chr3:194782000-194788600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:194782000-194790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:194782600-194786200	Enhancers	Fetal Muscle Trunk	muscle
16	chr3:194783400-194789800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:194783600-194786000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr3:194783600-194786000	Enhancers	HepG2	liver
19	chr3:194783600-194786200	Enhancers	Fetal Muscle Leg	muscle
20	chr3:194783600-194801400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:194783800-194786000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:194783800-194786600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:194783800-194788200	Weak transcription	Gastric	stomach
24	chr3:194784000-194786000	Enhancers	Stomach Mucosa	stomach
25	chr3:194784000-194786600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:194784000-194797800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:194784200-194786000	Enhancers	Primary B cells from peripheral blood	blood
28	chr3:194784200-194786200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr3:194784200-194786400	Enhancers	Fetal Thymus	thymus
30	chr3:194784200-194789600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:194784200-194790200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:194784200-194797400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:194784400-194786000	Enhancers	Thymus	Thymus
34	chr3:194784400-194786000	Enhancers	GM12878-XiMat	blood
35	chr3:194784600-194786800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:194784800-194786000	Enhancers	Primary B cells from cord blood	blood
37	chr3:194784800-194786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:194784800-194788600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:194785000-194786000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:194785200-194788400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:194785200-194788800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr3:194785200-194789800	Weak transcription	Aorta	Aorta
43	chr3:194785200-194796600	Weak transcription	NHLF	lung
44	chr3:194785400-194786000	Enhancers	Stomach Smooth Muscle	stomach
45	chr3:194785400-194788600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:194785400-194790200	Weak transcription	Esophagus	oesophagus
47	chr3:194785400-194793400	Weak transcription	Left Ventricle	heart
48	chr3:194785400-194799200	Weak transcription	Pancreas	Pancrea
49	chr3:194785600-194786000	Weak transcription	Spleen	Spleen
50	chr3:194785600-194786400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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