Variant report

Variant	esv3358226
Chromosome Location	chr10:49443286-49443697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49433973..49437325-chr10:49440787..49445569,4	K562	blood:
2	chr10:49441878..49444791-chr10:49513078..49515110,2	K562	blood:
3	chr10:49442419..49445275-chr10:49506224..49508061,2	K562	blood:
4	chr10:49438433..49440728-chr10:49443022..49446570,3	K562	blood:

Variant related genes	Relation type
ENSG00000107643	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557825142	chr10:49443301-49443302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530853133	chr10:49443310-49443311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572215802	chr10:49443316-49443317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550655296	chr10:49443319-49443320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546054865	chr10:49443335-49443336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs72792239	chr10:49443345-49443346	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs146363570	chr10:49443351-49443352	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544762194	chr10:49443357-49443358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562922645	chr10:49443382-49443383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530126559	chr10:49443394-49443395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs137996721	chr10:49443411-49443412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12257900	chr10:49443428-49443429	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528004933	chr10:49443430-49443431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191688224	chr10:49443434-49443435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570999078	chr10:49443465-49443466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs531931257	chr10:49443497-49443498	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373385203	chr10:49443577-49443578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560852167	chr10:49443603-49443604	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs55909384	chr10:49443613-49443614	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567778625	chr10:49443651-49443652	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111642091	chr10:49443658-49443659	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149479711	chr10:49443676-49443677	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73294242	chr10:49443678-49443679	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539363838	chr10:49443680-49443681	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49441000-49444200	Weak transcription	Fetal Thymus	thymus
2	chr10:49441400-49443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:49441600-49446800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr10:49442000-49446800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:49442000-49446800	Weak transcription	Brain Angular Gyrus	brain
6	chr10:49442000-49455200	Weak transcription	Right Atrium	heart
7	chr10:49442200-49443400	Weak transcription	Brain Substantia Nigra	brain
8	chr10:49442200-49443600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:49442200-49444200	Weak transcription	Brain Anterior Caudate	brain
10	chr10:49442200-49444200	Weak transcription	Brain Hippocampus Middle	brain
11	chr10:49443400-49443600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:49443400-49444800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:49443400-49444800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:49443400-49444800	Enhancers	Brain Substantia Nigra	brain
15	chr10:49443600-49444600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr10:49443600-49444800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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