Variant report

Variant	esv21116
Chromosome Location	chr3:194781127-194785923
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194772498..194774182-chr3:194778743..194781553,2	K562	blood:
2	chr3:194783220..194785678-chr3:194823694..194826162,2	K562	blood:
3	chr3:194782723..194784789-chr3:194796384..194799142,2	MCF-7	breast:
4	chr3:194779827..194782104-chr3:194805919..194808350,2	MCF-7	breast:
5	chr3:194783239..194785718-chr3:194791860..194793438,2	MCF-7	breast:
6	chr3:194779671..194783276-chr3:194783920..194787237,3	K562	blood:
7	chr3:194763578..194765560-chr3:194785379..194787030,2	MCF-7	breast:
8	chr3:194784048..194786675-chr3:194793923..194796465,3	K562	blood:
9	chr3:194779671..194783276-chr3:194783920..194787237,3	K562	blood:
10	chr3:194784787..194787485-chr3:194789648..194792559,2	K562	blood:
11	chr3:194778538..194781449-chr3:194803354..194805108,2	K562	blood:
12	chr3:194784048..194788600-chr3:194793923..194797943,5	K562	blood:
13	chr3:194784040..194786855-chr3:194798676..194802052,3	MCF-7	breast:
14	chr3:194778550..194782290-chr3:194783787..194785539,3	K562	blood:
15	chr3:194778550..194782290-chr3:194783787..194785539,3	K562	blood:
16	chr3:194559695..194562228-chr3:194782083..194784919,2	MCF-7	breast:
17	chr3:194778235..194781013-chr3:194783176..194785449,3	MCF-7	breast:
18	chr3:194774148..194775678-chr3:194782165..194785109,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173950	chromatin interactions

Extended variants
information (count: 249 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545577577	chr3:194781127-194781128	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs35500093	chr3:194781139-194781140	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560655721	chr3:194781147-194781148	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564246672	chr3:194781168-194781169	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531315594	chr3:194781266-194781267	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543379845	chr3:194781285-194781286	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561363490	chr3:194781338-194781339	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs367556502	chr3:194781339-194781340	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529135999	chr3:194781354-194781355	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs572644800	chr3:194781425-194781426	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs9817208	chr3:194781430-194781431	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188184595	chr3:194781432-194781433	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561581971	chr3:194781444-194781445	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs58780987	chr3:194781488-194781489	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191794636	chr3:194781517-194781518	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6769906	chr3:194781543-194781544	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551298368	chr3:194781566-194781567	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371996913	chr3:194781571-194781572	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537168496	chr3:194781616-194781617	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544185556	chr3:194781618-194781619	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2676838	chr3:194781619-194781620	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567695725	chr3:194781642-194781643	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535311275	chr3:194781694-194781695	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs116206974	chr3:194781712-194781713	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557178205	chr3:194781728-194781729	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs578103476	chr3:194781730-194781731	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545542430	chr3:194781731-194781732	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs77755637	chr3:194781747-194781748	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557274129	chr3:194781753-194781754	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576054031	chr3:194781763-194781764	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368379066	chr3:194781768-194781769	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543188279	chr3:194781788-194781789	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs200009022	chr3:194781805-194781806	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs6784747	chr3:194781808-194781809	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs540920053	chr3:194781833-194781834	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537958549	chr3:194781840-194781841	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs530887077	chr3:194781845-194781846	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs566343482	chr3:194781857-194781858	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs550622838	chr3:194781858-194781859	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559183304	chr3:194781880-194781881	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527453683	chr3:194781893-194781894	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533081009	chr3:194781935-194781936	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375953428	chr3:194781941-194781942	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs551523816	chr3:194781942-194781943	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184585820	chr3:194781962-194781963	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531015514	chr3:194782052-194782053	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372390311	chr3:194782149-194782150	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs375167163	chr3:194782159-194782160	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs189813616	chr3:194782166-194782167	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs567660391	chr3:194782196-194782197	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	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:167 , 50 per page) page: 1 2 3 4

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	chr3:194779000-194781400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:194779000-194808000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:194779200-194781600	Bivalent Enhancer	Fetal Stomach	stomach
8	chr3:194779400-194781200	Enhancers	Fetal Intestine Small	intestine
9	chr3:194779400-194781400	Enhancers	Spleen	Spleen
10	chr3:194779600-194783400	Weak transcription	Fetal Heart	heart
11	chr3:194780000-194781200	Enhancers	Stomach Smooth Muscle	stomach
12	chr3:194780000-194781400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:194780000-194788800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr3:194780200-194781200	Weak transcription	Left Ventricle	heart
15	chr3:194780200-194781200	Weak transcription	Right Ventricle	heart
16	chr3:194780200-194781200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:194780200-194783200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr3:194780200-194783600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:194780200-194784000	Weak transcription	Esophagus	oesophagus
20	chr3:194780200-194784200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:194780200-194784200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:194780200-194800000	Weak transcription	Right Atrium	heart
23	chr3:194780400-194781200	Enhancers	Fetal Intestine Large	intestine
24	chr3:194780400-194784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:194780400-194784400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:194780400-194788600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr3:194780600-194782600	Enhancers	Liver	Liver
28	chr3:194780600-194783600	Weak transcription	Fetal Muscle Leg	muscle
29	chr3:194780600-194784200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:194780600-194784200	Weak transcription	Fetal Thymus	thymus
31	chr3:194780600-194788600	Weak transcription	HUVEC	blood vessel
32	chr3:194780600-194788800	Weak transcription	Lung	lung
33	chr3:194780800-194781200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
34	chr3:194780800-194782000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:194780800-194782200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:194781000-194783600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:194781000-194783600	Bivalent Enhancer	HepG2	liver
38	chr3:194781000-194788600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr3:194781000-194789400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr3:194781000-194808000	Weak transcription	Colonic Mucosa	Colon
41	chr3:194781200-194781800	Enhancers	Left Ventricle	heart
42	chr3:194781200-194781800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr3:194781200-194781800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:194781200-194782000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr3:194781200-194782000	Enhancers	Right Ventricle	heart
46	chr3:194781200-194783600	Weak transcription	Fetal Intestine Large	intestine
47	chr3:194781200-194783800	Weak transcription	Fetal Intestine Small	intestine
48	chr3:194781400-194781800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:194781400-194782000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:194781400-194782000	Genic enhancers	Spleen	Spleen

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