Variant report

Variant	esv3411176
Chromosome Location	chr3:143423880-143457059
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:143450919..143453424-chr3:143456058..143458069,2	K562	blood:
2	chr11:126080284..126082597-chr3:143456468..143459368,2	MCF-7	breast:
3	chr3:143434288..143436243-chr3:143436984..143439628,2	K562	blood:
4	chr3:143434288..143436243-chr3:143436984..143439628,2	K562	blood:
5	chr3:143424621..143427520-chr3:143427541..143429252,2	K562	blood:
6	chr3:143450919..143453424-chr3:143456058..143458069,2	K562	blood:
7	chr3:143424621..143427520-chr3:143427541..143429252,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165526	chromatin interactions
ENSG00000197798	chromatin interactions

Extended variants
information (count: 1424 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1424 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146615941	chr3:143423883-143423884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201878131	chr3:143423884-143423885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370792710	chr3:143423885-143423886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140628558	chr3:143423887-143423888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58084739	chr3:143423888-143423889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9846034	chr3:143423894-143423895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368938782	chr3:143423895-143423896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs58982013	chr3:143423896-143423897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201014372	chr3:143423899-143423900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9846037	chr3:143423900-143423901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200940667	chr3:143423902-143423903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571220268	chr3:143423904-143423905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539442138	chr3:143424052-143424053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77556521	chr3:143424053-143424054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563798795	chr3:143424172-143424173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180878372	chr3:143424176-143424177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555850067	chr3:143424183-143424184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574102980	chr3:143424195-143424196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535229259	chr3:143424239-143424240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4839653	chr3:143424294-143424295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs578261849	chr3:143424297-143424298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545000666	chr3:143424333-143424334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563308858	chr3:143424359-143424360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56126118	chr3:143424398-143424399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs117082955	chr3:143424404-143424405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4839654	chr3:143424523-143424524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73009377	chr3:143424686-143424687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144042230	chr3:143424704-143424705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564813026	chr3:143424740-143424741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552132760	chr3:143424746-143424747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139943362	chr3:143424771-143424772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2801	chr3:143424787-143424788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs569920964	chr3:143424816-143424817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554604446	chr3:143424821-143424822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2800	chr3:143424822-143424823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
36	rs4240552	chr3:143424849-143424850	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs567787564	chr3:143424875-143424876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143363285	chr3:143424880-143424881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553631784	chr3:143424915-143424916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374891303	chr3:143424946-143424947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539306678	chr3:143424954-143424955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs386666597	chr3:143424996-143424997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6440184	chr3:143424998-143424999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185141453	chr3:143425004-143425005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554361470	chr3:143425034-143425035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13097498	chr3:143425041-143425042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540021007	chr3:143425046-143425047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532866971	chr3:143425067-143425068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190294629	chr3:143425111-143425112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182566395	chr3:143425118-143425119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Autism	22495309	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143394200-143470200	Weak transcription	Primary B cells from cord blood	blood
2	chr3:143418000-143431200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:143418800-143426600	Weak transcription	Fetal Lung	lung
4	chr3:143418800-143428600	Weak transcription	Brain Angular Gyrus	brain
5	chr3:143419000-143426800	Weak transcription	Psoas Muscle	Psoas
6	chr3:143419200-143428400	Weak transcription	Brain Anterior Caudate	brain
7	chr3:143425200-143425400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:143425400-143427600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:143425800-143426000	Enhancers	Small Intestine	intestine
10	chr3:143425800-143427000	Enhancers	Fetal Muscle Leg	muscle
11	chr3:143426400-143427400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:143426600-143426800	Enhancers	Fetal Lung	lung
13	chr3:143426600-143426800	Enhancers	Small Intestine	intestine
14	chr3:143426600-143427200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr3:143426600-143427400	Enhancers	HSMMtube	muscle
16	chr3:143426800-143427000	Enhancers	Brain Cingulate Gyrus	brain
17	chr3:143426800-143427400	Enhancers	Esophagus	oesophagus
18	chr3:143426800-143427400	Enhancers	Psoas Muscle	Psoas
19	chr3:143427000-143427200	Enhancers	Brain Hippocampus Middle	brain
20	chr3:143427000-143428400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:143427200-143427400	Enhancers	Brain Substantia Nigra	brain
22	chr3:143427200-143428200	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:143427200-143429600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:143427400-143428400	Weak transcription	Brain Substantia Nigra	brain
25	chr3:143427400-143444600	Weak transcription	Esophagus	oesophagus
26	chr3:143427600-143427800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:143427800-143428000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:143427800-143428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:143428000-143429000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:143428200-143428400	Enhancers	Brain Hippocampus Middle	brain
31	chr3:143428200-143429200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:143428200-143429400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:143428200-143429400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr3:143428400-143429200	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:143428400-143429400	Enhancers	Brain Anterior Caudate	brain
36	chr3:143428400-143429800	Enhancers	Brain Cingulate Gyrus	brain
37	chr3:143428400-143429800	Enhancers	Brain Substantia Nigra	brain
38	chr3:143428600-143429400	Enhancers	Brain Angular Gyrus	brain
39	chr3:143429000-143429400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:143429000-143429400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:143429200-143429800	Enhancers	Brain Hippocampus Middle	brain
42	chr3:143429400-143430600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:143430800-143431000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:143431200-143432200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:143434400-143434600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr3:143435200-143441000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:143435400-143436000	Enhancers	HSMM	muscle
48	chr3:143435400-143436200	Enhancers	HSMMtube	muscle
49	chr3:143435600-143436000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:143435600-143436000	Enhancers	Muscle Satellite Cultured Cells	--

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