Variant report

Variant	esv3429047
Chromosome Location	chr3:49441735-49442072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49441534..49443566-chr3:49445020..49447765,2	K562	blood:
2	chr3:49441705..49446563-chr3:49447849..49450189,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067560	chromatin interactions
ENSG00000145022	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72581976	chr3:49441745-49441746	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs200633269	chr3:49441746-49441747	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs66691389	chr3:49441747-49441748	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs536989660	chr3:49441770-49441771	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs9757181	chr3:49441847-49441848	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs374020319	chr3:49441866-49441867	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs10527314	chr3:49441891-49441892	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs186634631	chr3:49441924-49441925	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549812970	chr3:49441947-49441948	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571602289	chr3:49441953-49441954	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs538975460	chr3:49441964-49441965	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs554297095	chr3:49441974-49441975	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs373276891	chr3:49441984-49441985	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs188605418	chr3:49442019-49442020	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs11715060	chr3:49442020-49442021	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs386660837	chr3:49442026-49442027	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs386660838	chr3:49442037-49442038	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs75012133	chr3:49442065-49442066	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs71080508	chr3:49442068-49442069	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49399000-49448000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:49406000-49445200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:49413200-49443000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:49413200-49447400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:49422200-49443000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:49424200-49443400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:49426000-49444000	Weak transcription	Esophagus	oesophagus
8	chr3:49426200-49443000	Weak transcription	NHLF	lung
9	chr3:49427000-49448400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:49429000-49441800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:49429000-49447200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:49431200-49447200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:49433800-49444000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr3:49433800-49447200	Weak transcription	Colonic Mucosa	Colon
15	chr3:49434200-49442800	Weak transcription	Brain Germinal Matrix	brain
16	chr3:49434800-49443000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:49435400-49442400	Strong transcription	Fetal Intestine Small	intestine
18	chr3:49435400-49445600	Weak transcription	Fetal Brain Male	brain
19	chr3:49435400-49447000	Weak transcription	HSMMtube	muscle
20	chr3:49435400-49447800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:49435600-49443000	Weak transcription	NHDF-Ad	bronchial
22	chr3:49435600-49443200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:49435800-49443000	Weak transcription	Small Intestine	intestine
24	chr3:49435800-49446800	Weak transcription	Brain Angular Gyrus	brain
25	chr3:49436600-49443200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:49436800-49441800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:49437600-49441800	Strong transcription	Thymus	Thymus
28	chr3:49438000-49442000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:49438200-49442800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:49438200-49443000	Weak transcription	Liver	Liver
31	chr3:49438200-49443800	Weak transcription	K562	blood
32	chr3:49438200-49444000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:49438200-49446800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:49438800-49441800	Strong transcription	Fetal Intestine Large	intestine
35	chr3:49438800-49444000	Weak transcription	Right Ventricle	heart
36	chr3:49439000-49442200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:49439000-49442800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr3:49439000-49443200	Weak transcription	Primary B cells from cord blood	blood
39	chr3:49439000-49447200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:49439200-49441800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:49439200-49443600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:49439400-49441800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:49439400-49443000	Weak transcription	Brain Substantia Nigra	brain
44	chr3:49439400-49443000	Weak transcription	Left Ventricle	heart
45	chr3:49439400-49443400	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:49439400-49444200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:49439600-49442000	Strong transcription	Fetal Stomach	stomach
48	chr3:49439600-49443000	Weak transcription	Brain Anterior Caudate	brain
49	chr3:49439600-49443000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr3:49439600-49443000	Weak transcription	HSMM	muscle

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