Variant report

Variant	esv3328695
Chromosome Location	chr10:97277817-97278168
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	chr10:97277519..97280426-chr10:97289369..97291949,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141045287	chr10:97277843-97277844	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs4592368	chr10:97277876-97277877	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs150257023	chr10:97277921-97277922	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs76693392	chr10:97277922-97277923	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186953073	chr10:97277925-97277926	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs539828393	chr10:97277980-97277981	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs78838677	chr10:97277991-97277992	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs191834423	chr10:97278002-97278003	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs573147004	chr10:97278012-97278013	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs78275307	chr10:97278040-97278041	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs555499394	chr10:97278097-97278098	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs76967331	chr10:97278106-97278107	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs943347	chr10:97278123-97278124	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs11188341	chr10:97278129-97278130	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs532889470	chr10:97278145-97278146	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Prostate cancer	16573809	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97260000-97278400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:97262400-97278400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:97269000-97282600	Weak transcription	Fetal Kidney	kidney
4	chr10:97270600-97278200	Enhancers	Rectal Smooth Muscle	rectum
5	chr10:97270600-97278600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr10:97270600-97279200	Enhancers	Left Ventricle	heart
7	chr10:97270600-97279200	Enhancers	Right Atrium	heart
8	chr10:97270600-97279200	Enhancers	Stomach Mucosa	stomach
9	chr10:97270600-97283400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr10:97271000-97281200	Enhancers	Right Ventricle	heart
11	chr10:97271400-97279800	Enhancers	Fetal Muscle Leg	muscle
12	chr10:97271400-97279800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr10:97271600-97279800	Enhancers	Fetal Heart	heart
14	chr10:97271600-97284600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr10:97272800-97278600	Enhancers	HUVEC	blood vessel
16	chr10:97273400-97279800	Enhancers	Colon Smooth Muscle	Colon
17	chr10:97273600-97284000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr10:97274200-97278600	Weak transcription	Fetal Lung	lung
19	chr10:97274200-97279200	Enhancers	Pancreas	Pancrea
20	chr10:97274400-97280400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr10:97275200-97279800	Enhancers	Brain Anterior Caudate	brain
22	chr10:97275600-97279400	Enhancers	Aorta	Aorta
23	chr10:97275800-97278600	Weak transcription	Spleen	Spleen
24	chr10:97275800-97279800	Enhancers	HepG2	liver
25	chr10:97276000-97278200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr10:97276200-97278000	Enhancers	Brain Substantia Nigra	brain
27	chr10:97276200-97279400	Enhancers	K562	blood
28	chr10:97276400-97279200	Enhancers	HSMMtube	muscle
29	chr10:97276400-97279600	Enhancers	Liver	Liver
30	chr10:97276600-97278000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:97276600-97279200	Enhancers	Gastric	stomach
32	chr10:97276600-97279600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr10:97276600-97279800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr10:97276600-97283400	Enhancers	Fetal Brain Male	brain
35	chr10:97276800-97278800	Enhancers	Fetal Intestine Small	intestine
36	chr10:97276800-97280000	Enhancers	Fetal Stomach	stomach
37	chr10:97277000-97278000	Enhancers	Esophagus	oesophagus
38	chr10:97277000-97278800	Enhancers	Brain Hippocampus Middle	brain
39	chr10:97277000-97279000	Enhancers	Psoas Muscle	Psoas
40	chr10:97277000-97279000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr10:97277000-97279200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:97277000-97279200	Enhancers	Brain Germinal Matrix	brain
43	chr10:97277000-97279200	Enhancers	Fetal Intestine Large	intestine
44	chr10:97277000-97284200	Enhancers	Fetal Brain Female	brain
45	chr10:97277200-97278000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:97277200-97278000	Enhancers	Ovary	ovary
47	chr10:97277200-97278400	Enhancers	NH-A	brain
48	chr10:97277200-97278800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr10:97277200-97279000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr10:97277200-97279200	Enhancers	Brain Inferior Temporal Lobe	brain

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