Variant report

Variant	esv3462576
Chromosome Location	chr3:141571978-141572976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141572535..141577020-chr3:141577520..141580283,4	K562	blood:
2	chr3:141564064..141566563-chr3:141571317..141573505,3	K562	blood:
3	chr3:141567996..141570024-chr3:141570674..141572307,2	K562	blood:
4	chr3:141571955..141574364-chr3:141594385..141596373,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000069849	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76981569	chr3:141571987-141571988	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573029786	chr3:141571989-141571990	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs118133401	chr3:141572005-141572006	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532991344	chr3:141572006-141572007	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs16851872	chr3:141572043-141572044	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563478825	chr3:141572104-141572105	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149634128	chr3:141572169-141572170	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549031726	chr3:141572231-141572232	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567345045	chr3:141572333-141572334	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs16851874	chr3:141572374-141572375	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546389318	chr3:141572398-141572399	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs13078635	chr3:141572495-141572496	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs17195470	chr3:141572539-141572540	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549014779	chr3:141572545-141572546	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529614970	chr3:141572558-141572559	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147337824	chr3:141572580-141572581	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536225140	chr3:141572608-141572609	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554515435	chr3:141572620-141572621	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs114457875	chr3:141572636-141572637	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs549345091	chr3:141572646-141572647	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569347321	chr3:141572680-141572681	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12497872	chr3:141572681-141572682	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558784786	chr3:141572693-141572694	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535882394	chr3:141572729-141572730	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139443619	chr3:141572763-141572764	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544913282	chr3:141572764-141572765	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538339094	chr3:141572801-141572802	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs186544980	chr3:141572821-141572822	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189624913	chr3:141572839-141572840	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112673889	chr3:141572869-141572870	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560828260	chr3:141572895-141572896	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115942219	chr3:141572902-141572903	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546673964	chr3:141572903-141572904	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs143426226	chr3:141572922-141572923	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558279253	chr3:141572932-141572933	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550922488	chr3:141572934-141572935	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569131030	chr3:141572940-141572941	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
T-cell prolymphocytic leukemia	17713554	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
Lung cancer	16740712	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
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141560600-141572600	Weak transcription	Spleen	Spleen
2	chr3:141565000-141572000	Weak transcription	Adipose Nuclei	Adipose
3	chr3:141565000-141578000	Weak transcription	Fetal Intestine Small	intestine
4	chr3:141567600-141574600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:141568600-141572400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr3:141568600-141572400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:141568600-141579600	Weak transcription	Fetal Thymus	thymus
8	chr3:141569000-141572000	Weak transcription	K562	blood
9	chr3:141569800-141572600	Enhancers	HUVEC	blood vessel
10	chr3:141570800-141572400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:141570800-141578600	Weak transcription	Left Ventricle	heart
12	chr3:141571000-141572000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:141571800-141572000	Enhancers	Lung	lung
14	chr3:141571800-141572800	Enhancers	Esophagus	oesophagus
15	chr3:141571800-141573000	Enhancers	Primary hematopoietic stem cells	blood
16	chr3:141571800-141573000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr3:141571800-141573600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:141572000-141572400	Weak transcription	Lung	lung
19	chr3:141572000-141572600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr3:141572000-141572600	Enhancers	K562	blood
21	chr3:141572000-141572800	Enhancers	Colon Smooth Muscle	Colon
22	chr3:141572000-141572800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr3:141572000-141572800	Enhancers	Hela-S3	cervix
24	chr3:141572000-141573000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:141572000-141573000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:141572000-141573000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:141572000-141573000	Enhancers	Adipose Nuclei	Adipose
28	chr3:141572000-141573000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr3:141572200-141572600	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr3:141572200-141572800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:141572200-141572800	Enhancers	Duodenum Mucosa	Duodenum
32	chr3:141572400-141572600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr3:141572400-141572800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr3:141572400-141573000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr3:141572400-141573000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:141572400-141573000	Enhancers	Lung	lung
37	chr3:141572400-141573000	Enhancers	NHEK	skin
38	chr3:141572600-141572800	Flanking Active TSS	Spleen	Spleen
39	chr3:141572600-141573000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:141572600-141578600	Weak transcription	K562	blood
41	chr3:141572800-141573000	Enhancers	Spleen	Spleen
42	chr3:141572800-141573800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr3:141572800-141578000	Weak transcription	Duodenum Mucosa	Duodenum

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