Variant report

Variant	esv2075436
Chromosome Location	chr3:195892400-195892401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:195807555..195809737-chr3:195889457..195892454,2	K562	blood:
2	chr3:195868179..195870899-chr3:195889538..195893919,5	K562	blood:
3	chr3:195890392..195892758-chr3:195896649..195898282,2	K562	blood:
4	chr3:195807237..195809801-chr3:195891488..195894845,3	MCF-7	breast:
5	chr3:195890135..195892758-chr3:195896649..195899546,2	K562	blood:
6	chr3:195869399..195874058-chr3:195891436..195894559,4	K562	blood:

Variant related genes	Relation type
ENSG00000072274	chromatin interactions
ENSG00000224652	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 82 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113294515	chr3:195892400-195892401	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195883400-195904400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:195887200-195893000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:195887600-195892800	Weak transcription	Brain Anterior Caudate	brain
4	chr3:195887600-195905600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:195887800-195896800	Weak transcription	Primary B cells from cord blood	blood
6	chr3:195888600-195893200	Enhancers	Stomach Mucosa	stomach
7	chr3:195889600-195892600	Enhancers	Pancreas	Pancrea
8	chr3:195890000-195895800	Weak transcription	Dnd41	blood
9	chr3:195890400-195892400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr3:195890400-195892800	Enhancers	K562	blood
11	chr3:195890400-195893200	Enhancers	Duodenum Mucosa	Duodenum
12	chr3:195890800-195892400	Enhancers	Esophagus	oesophagus
13	chr3:195890800-195892600	Weak transcription	Fetal Brain Female	brain
14	chr3:195890800-195895600	Weak transcription	Liver	Liver
15	chr3:195891000-195892800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:195891000-195892800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:195891000-195893000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:195891200-195905600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:195891400-195893000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:195891400-195895800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:195891600-195892400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:195891600-195892400	Bivalent Enhancer	HepG2	liver
23	chr3:195891600-195893000	Enhancers	Gastric	stomach
24	chr3:195891600-195893000	Enhancers	Hela-S3	cervix
25	chr3:195891600-195895600	Weak transcription	Adipose Nuclei	Adipose
26	chr3:195891600-195895600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr3:195891600-195904400	Weak transcription	Colonic Mucosa	Colon
28	chr3:195891800-195892400	Enhancers	Psoas Muscle	Psoas
29	chr3:195891800-195892400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr3:195891800-195893000	Enhancers	Right Ventricle	heart
31	chr3:195891800-195893400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr3:195891800-195896200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr3:195891800-195896600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr3:195891800-195905600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr3:195891800-195906200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:195892000-195892400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:195892000-195892400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
38	chr3:195892000-195892400	Weak transcription	Fetal Intestine Small	intestine
39	chr3:195892000-195892400	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr3:195892000-195892600	Active TSS	HSMMtube	muscle
41	chr3:195892000-195893200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:195892000-195896000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr3:195892200-195892600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr3:195892200-195893200	Enhancers	Placenta	Placenta
45	chr3:195892200-195895600	Weak transcription	Left Ventricle	heart
46	chr3:195892200-195895800	Weak transcription	Fetal Heart	heart
47	chr3:195892400-195892600	Enhancers	Fetal Intestine Small	intestine
48	chr3:195892400-195892600	Enhancers	Fetal Muscle Leg	muscle
49	chr3:195892400-195892600	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr3:195892400-195892800	Active TSS	Skeletal Muscle Male	skeletal muscle

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