Variant report

Variant	esv16284
Chromosome Location	chr3:194786392-194788490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194763578..194765560-chr3:194785379..194787030,2	MCF-7	breast:
2	chr3:194405223..194406837-chr3:194788272..194790538,2	MCF-7	breast:
3	chr3:194787100..194789938-chr3:194793885..194796418,2	K562	blood:
4	chr3:194784040..194786855-chr3:194798676..194802052,3	MCF-7	breast:
5	chr3:194784787..194787485-chr3:194789648..194792559,2	K562	blood:
6	chr3:194784048..194788600-chr3:194793923..194797943,5	K562	blood:
7	chr3:194779671..194783276-chr3:194783920..194787237,3	K562	blood:
8	chr3:194784048..194786675-chr3:194793923..194796465,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185112	chromatin interactions

Extended variants
information (count: 171 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570009907	chr3:194786407-194786408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531046590	chr3:194786412-194786413	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549360882	chr3:194786435-194786436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537690080	chr3:194786449-194786450	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12491298	chr3:194786482-194786483	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12491299	chr3:194786494-194786495	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552762787	chr3:194786499-194786500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567696076	chr3:194786500-194786501	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373423085	chr3:194786502-194786503	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12487127	chr3:194786523-194786524	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547024985	chr3:194786525-194786526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12491762	chr3:194786528-194786529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571801478	chr3:194786546-194786547	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538809796	chr3:194786548-194786549	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557154543	chr3:194786556-194786557	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575699563	chr3:194786559-194786560	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536784742	chr3:194786580-194786581	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568558865	chr3:194786639-194786640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554923799	chr3:194786653-194786654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115163384	chr3:194786674-194786675	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541312336	chr3:194786679-194786680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373485263	chr3:194786685-194786686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577869514	chr3:194786686-194786687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544845129	chr3:194786702-194786703	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535004513	chr3:194786716-194786717	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117911793	chr3:194786730-194786731	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553225622	chr3:194786731-194786732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201726194	chr3:194786753-194786754	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375318389	chr3:194786793-194786794	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531009469	chr3:194786812-194786813	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565674902	chr3:194786846-194786847	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113592443	chr3:194786857-194786858	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189279189	chr3:194786911-194786912	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575283636	chr3:194786912-194786913	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369550368	chr3:194786917-194786918	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571820366	chr3:194786926-194786927	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200502544	chr3:194786929-194786930	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186029242	chr3:194786931-194786932	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191256175	chr3:194786932-194786933	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532855650	chr3:194786933-194786934	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183169980	chr3:194786934-194786935	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576053342	chr3:194786939-194786940	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186780680	chr3:194786954-194786955	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73890643	chr3:194786957-194786958	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs112422590	chr3:194786994-194786995	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377188680	chr3:194787009-194787010	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116711001	chr3:194787042-194787043	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555085830	chr3:194787050-194787051	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112868950	chr3:194787064-194787065	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567366970	chr3:194787079-194787080	ZNF genes & repeats Weak transcription Strong transcription	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:124 , 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	chr3:194782000-194788600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:194782000-194790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:194783400-194789800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:194783600-194801400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:194783800-194786600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:194783800-194788200	Weak transcription	Gastric	stomach
18	chr3:194784000-194786600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:194784000-194797800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:194784200-194786400	Enhancers	Fetal Thymus	thymus
21	chr3:194784200-194789600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:194784200-194790200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:194784200-194797400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:194784600-194786800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:194784800-194786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:194784800-194788600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:194785200-194788400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:194785200-194788800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr3:194785200-194789800	Weak transcription	Aorta	Aorta
30	chr3:194785200-194796600	Weak transcription	NHLF	lung
31	chr3:194785400-194788600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:194785400-194790200	Weak transcription	Esophagus	oesophagus
33	chr3:194785400-194793400	Weak transcription	Left Ventricle	heart
34	chr3:194785400-194799200	Weak transcription	Pancreas	Pancrea
35	chr3:194785600-194786400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:194785600-194786600	Weak transcription	Brain Germinal Matrix	brain
37	chr3:194785600-194787600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:194785600-194788600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:194785600-194788800	Weak transcription	Fetal Brain Female	brain
40	chr3:194785600-194789600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:194785600-194790000	Weak transcription	Colon Smooth Muscle	Colon
42	chr3:194785600-194791000	Weak transcription	Small Intestine	intestine
43	chr3:194785600-194792400	Weak transcription	Right Ventricle	heart
44	chr3:194785600-194801400	Weak transcription	Fetal Lung	lung
45	chr3:194785600-194801600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:194785600-194802000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:194785800-194788200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:194785800-194788200	Weak transcription	Fetal Intestine Small	intestine
49	chr3:194785800-194788600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:194785800-194788600	Weak transcription	Placenta	Placenta

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