Variant report

Variant	esv3345046
Chromosome Location	chr3:196279632-196280195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196273664..196275674-chr3:196279813..196283038,3	K562	blood:
2	chr3:196279565..196282781-chr3:196284515..196288067,4	K562	blood:
3	chr3:196279002..196280829-chr3:196379473..196381210,2	K562	blood:
4	chr3:196228243..196229993-chr3:196279816..196281934,2	MCF-7	breast:
5	chr3:196279531..196281601-chr3:196294002..196296725,2	MCF-7	breast:
6	chr3:196279565..196281611-chr3:196284186..196287090,3	K562	blood:
7	chr3:196277670..196280176-chr3:196286721..196289590,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174013	chromatin interactions
ENSG00000185798	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540187125	chr3:196279679-196279680	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs564732415	chr3:196279711-196279712	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs80212052	chr3:196279728-196279729	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs149613090	chr3:196279766-196279767	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562727377	chr3:196279822-196279823	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs144359144	chr3:196279829-196279830	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs548384006	chr3:196279864-196279865	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs547661720	chr3:196279865-196279866	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs566916634	chr3:196279870-196279871	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs527786062	chr3:196279874-196279875	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs552515937	chr3:196279962-196279963	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs533775194	chr3:196279977-196279978	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs193107929	chr3:196280008-196280009	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs557318384	chr3:196280014-196280015	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs569067890	chr3:196280103-196280104	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs148739380	chr3:196280107-196280108	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs9850782	chr3:196280145-196280146	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572851287	chr3:196280178-196280179	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196272600-196287400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:196272600-196288000	Weak transcription	K562	blood
3	chr3:196274200-196286800	Weak transcription	Liver	Liver
4	chr3:196276400-196280000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:196276800-196293800	Weak transcription	HepG2	liver
6	chr3:196277000-196285800	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:196277200-196280600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr3:196277200-196280800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr3:196277400-196285400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr3:196277600-196281200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:196277600-196284800	Weak transcription	Thymus	Thymus
12	chr3:196277600-196287800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:196277600-196290200	Weak transcription	NH-A	brain
14	chr3:196277600-196294200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:196277800-196280000	Weak transcription	Primary B cells from cord blood	blood
16	chr3:196277800-196280600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:196277800-196281400	Weak transcription	Fetal Thymus	thymus
18	chr3:196277800-196285800	Weak transcription	Aorta	Aorta
19	chr3:196277800-196287600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:196277800-196287600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:196277800-196287800	Weak transcription	Fetal Brain Female	brain
22	chr3:196277800-196293600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:196278000-196281200	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:196278000-196286000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr3:196278000-196286400	Weak transcription	Fetal Stomach	stomach
26	chr3:196278000-196287600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:196278000-196287600	Weak transcription	HSMMtube	muscle
28	chr3:196278000-196294400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:196278200-196287400	Weak transcription	NHDF-Ad	bronchial
30	chr3:196278200-196288200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr3:196278400-196280200	Weak transcription	Adipose Nuclei	Adipose
32	chr3:196278400-196281200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:196278400-196287800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr3:196278600-196281200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr3:196278600-196285000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr3:196278600-196286600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:196278600-196287800	Weak transcription	Osteobl	bone
38	chr3:196278800-196285800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:196278800-196287800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr3:196278800-196294600	Weak transcription	Gastric	stomach
41	chr3:196279000-196280600	Weak transcription	Primary T cells from cord blood	blood
42	chr3:196279000-196280600	Weak transcription	Left Ventricle	heart
43	chr3:196279000-196286600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:196279000-196287400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:196279000-196287400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr3:196279000-196287800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:196279000-196289400	Weak transcription	Hela-S3	cervix
48	chr3:196279000-196294000	Weak transcription	Brain Anterior Caudate	brain
49	chr3:196279000-196294200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr3:196279200-196280800	Weak transcription	Dnd41	blood

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