Variant report

Variant	esv12989
Chromosome Location	chr3:194780462-194781067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194778235..194781013-chr3:194783176..194785449,3	MCF-7	breast:
2	chr3:194778550..194782290-chr3:194783787..194785539,3	K562	blood:
3	chr3:194779827..194782104-chr3:194805919..194808350,2	MCF-7	breast:
4	chr3:194772498..194774182-chr3:194778743..194781553,2	K562	blood:
5	chr3:194779671..194783276-chr3:194783920..194787237,3	K562	blood:
6	chr3:194778538..194781449-chr3:194803354..194805108,2	K562	blood:

Variant related genes	Relation type
ENSG00000173950	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116043423	chr3:194780478-194780479	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs111831550	chr3:194780484-194780485	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79529730	chr3:194780488-194780489	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537734339	chr3:194780497-194780498	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375214945	chr3:194780514-194780515	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs75053255	chr3:194780515-194780516	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4383449	chr3:194780518-194780519	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs729375	chr3:194780520-194780521	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535304784	chr3:194780521-194780522	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533819278	chr3:194780525-194780526	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377389285	chr3:194780566-194780567	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182424816	chr3:194780611-194780612	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs145592943	chr3:194780659-194780660	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140239729	chr3:194780684-194780685	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188660285	chr3:194780709-194780710	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576414237	chr3:194780716-194780717	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543759444	chr3:194780723-194780724	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs3988215	chr3:194780725-194780726	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs57561709	chr3:194780737-194780738	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541589935	chr3:194780739-194780740	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192818886	chr3:194780745-194780746	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs3959148	chr3:194780749-194780750	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183613799	chr3:194780752-194780753	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188896453	chr3:194780776-194780777	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531382824	chr3:194780806-194780807	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4481101	chr3:194780812-194780813	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs567968484	chr3:194780858-194780859	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs535383826	chr3:194780868-194780869	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs79924927	chr3:194780884-194780885	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs144011189	chr3:194780904-194780905	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146422945	chr3:194780905-194780906	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs140939889	chr3:194780947-194780948	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576352100	chr3:194780959-194780960	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537413621	chr3:194780967-194780968	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112145699	chr3:194781000-194781001	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs578049195	chr3:194781001-194781002	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs34812133	chr3:194781032-194781033	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192476466	chr3:194781037-194781038	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	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:54 , 50 per page) page: 1 2

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	chr3:194776400-194783400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:194778400-194782600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr3:194778800-194780600	Enhancers	Fetal Muscle Leg	muscle
6	chr3:194779000-194780600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:194779000-194780600	Enhancers	HUVEC	blood vessel
8	chr3:194779000-194781400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:194779000-194808000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:194779200-194780600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:194779200-194780600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr3:194779200-194781600	Bivalent Enhancer	Fetal Stomach	stomach
13	chr3:194779400-194780600	Enhancers	Fetal Thymus	thymus
14	chr3:194779400-194781200	Enhancers	Fetal Intestine Small	intestine
15	chr3:194779400-194781400	Enhancers	Spleen	Spleen
16	chr3:194779600-194783400	Weak transcription	Fetal Heart	heart
17	chr3:194779800-194780600	Enhancers	Lung	lung
18	chr3:194780000-194781000	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr3:194780000-194781200	Enhancers	Stomach Smooth Muscle	stomach
20	chr3:194780000-194781400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:194780000-194788800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr3:194780200-194781200	Weak transcription	Left Ventricle	heart
23	chr3:194780200-194781200	Weak transcription	Right Ventricle	heart
24	chr3:194780200-194781200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:194780200-194783200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:194780200-194783600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:194780200-194784000	Weak transcription	Esophagus	oesophagus
28	chr3:194780200-194784200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:194780200-194784200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:194780200-194800000	Weak transcription	Right Atrium	heart
31	chr3:194780400-194780800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:194780400-194781000	Enhancers	Colonic Mucosa	Colon
33	chr3:194780400-194781000	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr3:194780400-194781200	Enhancers	Fetal Intestine Large	intestine
35	chr3:194780400-194784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:194780400-194784400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr3:194780400-194788600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr3:194780600-194780800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:194780600-194782600	Enhancers	Liver	Liver
40	chr3:194780600-194783600	Weak transcription	Fetal Muscle Leg	muscle
41	chr3:194780600-194784200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:194780600-194784200	Weak transcription	Fetal Thymus	thymus
43	chr3:194780600-194788600	Weak transcription	HUVEC	blood vessel
44	chr3:194780600-194788800	Weak transcription	Lung	lung
45	chr3:194780800-194781000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:194780800-194781000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr3:194780800-194781200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
48	chr3:194780800-194782000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr3:194780800-194782200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:194781000-194783600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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