Variant report

Variant	nsv825357
Chromosome Location	chr10:44866647-44867272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:44864860..44867603-chr10:44877581..44881069,3	MCF-7	breast:
2	chr10:44856118..44857833-chr10:44865837..44868542,2	K562	blood:
3	chr10:44860292..44861820-chr10:44864843..44866905,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107562	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs207470842	chr10:44866675-44866676	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565385865	chr10:44866690-44866691	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs36063399	chr10:44866697-44866698	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532702408	chr10:44866728-44866729	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186291694	chr10:44866751-44866752	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs147543604	chr10:44866788-44866789	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530712478	chr10:44866821-44866822	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373418937	chr10:44866836-44866837	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs41384348	chr10:44866898-44866899	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368037886	chr10:44866906-44866907	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528085245	chr10:44866960-44866961	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546143795	chr10:44867029-44867030	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190754137	chr10:44867042-44867043	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1029153	chr10:44867146-44867147	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs183312237	chr10:44867207-44867208	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs544913184	chr10:44867222-44867223	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376643420	chr10:44867258-44867259	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187801493	chr10:44867266-44867267	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Lung cancer	18438408	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
Mental retardation	21062444	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	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
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44838600-44867400	Weak transcription	Spleen	Spleen
2	chr10:44848400-44867400	Weak transcription	Adipose Nuclei	Adipose
3	chr10:44848400-44867600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr10:44849400-44869000	Weak transcription	Right Ventricle	heart
5	chr10:44850600-44877600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:44854200-44867200	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:44854400-44869000	Weak transcription	Brain Substantia Nigra	brain
8	chr10:44859000-44871800	Weak transcription	Psoas Muscle	Psoas
9	chr10:44860000-44879000	Weak transcription	Gastric	stomach
10	chr10:44860200-44868800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr10:44861400-44869200	Weak transcription	Colonic Mucosa	Colon
12	chr10:44863000-44867400	Weak transcription	Pancreas	Pancrea
13	chr10:44863200-44869400	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr10:44864600-44866800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:44864600-44868000	Weak transcription	NHLF	lung
16	chr10:44864600-44871600	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr10:44864600-44876200	Weak transcription	Brain Anterior Caudate	brain
18	chr10:44864600-44876800	Strong transcription	Fetal Stomach	stomach
19	chr10:44864800-44877800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr10:44865000-44867400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:44865000-44873000	Weak transcription	Esophagus	oesophagus
22	chr10:44865200-44868600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr10:44865400-44867400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:44865400-44867400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:44865400-44867400	Weak transcription	Aorta	Aorta
26	chr10:44865400-44867400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr10:44865400-44867800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:44865400-44876200	Weak transcription	Right Atrium	heart
29	chr10:44865600-44868000	Weak transcription	Fetal Kidney	kidney
30	chr10:44865600-44878000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:44865800-44867200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr10:44865800-44872200	Strong transcription	Fetal Intestine Small	intestine
33	chr10:44866000-44866800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr10:44866000-44866800	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr10:44866000-44876200	Strong transcription	Left Ventricle	heart
36	chr10:44866000-44877600	Weak transcription	Fetal Brain Female	brain
37	chr10:44866200-44866800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr10:44866200-44866800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr10:44866200-44867000	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr10:44866200-44867000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:44866200-44867000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr10:44866200-44867200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr10:44866200-44867400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr10:44866200-44867400	Weak transcription	Ovary	ovary
45	chr10:44866200-44876000	Strong transcription	Osteobl	bone
46	chr10:44866400-44866800	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr10:44866400-44866800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr10:44866400-44867200	Weak transcription	Fetal Lung	lung
49	chr10:44866400-44867200	Weak transcription	NHDF-Ad	bronchial
50	chr10:44866400-44867400	Weak transcription	H9 Cell Line	embryonic stem cell

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