Variant report

Variant	esv3530691
Chromosome Location	chr10:89652219-89654006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:89577513..89579875-chr10:89651204..89652722,2	MCF-7	breast:
2	chr10:89620623..89623024-chr10:89650923..89652656,2	K562	blood:
3	chr10:89646944..89651726-chr10:89652897..89657139,4	MCF-7	breast:
4	chr10:89638682..89641996-chr10:89653428..89657390,3	K562	blood:
5	chr10:89642392..89644637-chr10:89652677..89655610,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171862	chromatin interactions
ENSG00000138138	chromatin interactions
ENSG00000223820	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536682475	chr10:89652219-89652220	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs555008917	chr10:89652220-89652221	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs576466112	chr10:89652274-89652275	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs141201576	chr10:89652287-89652288	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs529954607	chr10:89652313-89652314	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs558489988	chr10:89652315-89652316	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs146961742	chr10:89652320-89652321	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs35690128	chr10:89652355-89652356	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs138048953	chr10:89652448-89652449	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs34365974	chr10:89652483-89652484	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs371910288	chr10:89652519-89652520	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs541427048	chr10:89652523-89652524	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs374671907	chr10:89652582-89652583	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs34605783	chr10:89652602-89652603	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs540281395	chr10:89652637-89652638	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs370725055	chr10:89652638-89652639	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs113057024	chr10:89652647-89652648	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs35684736	chr10:89652675-89652676	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs530534855	chr10:89652678-89652679	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs35846315	chr10:89652748-89652749	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190711553	chr10:89652764-89652765	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565312786	chr10:89652771-89652772	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532798641	chr10:89652804-89652805	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548098823	chr10:89652825-89652826	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34956660	chr10:89652839-89652840	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566387451	chr10:89652853-89652854	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148262230	chr10:89652880-89652881	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564621126	chr10:89652960-89652961	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183278829	chr10:89652972-89652973	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141351072	chr10:89652985-89652986	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537135375	chr10:89652986-89652987	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187261687	chr10:89653058-89653059	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34073305	chr10:89653075-89653076	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534547088	chr10:89653107-89653108	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370543522	chr10:89653131-89653132	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185303478	chr10:89653140-89653141	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150763473	chr10:89653158-89653159	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188225094	chr10:89653200-89653201	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575220604	chr10:89653208-89653209	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545575729	chr10:89653223-89653224	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35401235	chr10:89653227-89653228	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192792326	chr10:89653301-89653302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35168634	chr10:89653362-89653363	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184249068	chr10:89653372-89653373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560063964	chr10:89653398-89653399	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113977734	chr10:89653422-89653423	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139154420	chr10:89653448-89653449	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188313022	chr10:89653534-89653535	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569929184	chr10:89653549-89653550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530983384	chr10:89653560-89653561	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Thoracic aortic aneurysm	21092924	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
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21569311	CNVD
Cancer	20164919	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Glioblastoma multiforme	19115005	CNVD
Prostate cancer	21147910	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	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
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	20020426	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	22065749	CNVD
Cancer	22000013	CNVD
Colon cancer	22065749	CNVD
Endometrial cancer	22065749	CNVD
Lung cancer	20668451	CNVD
Breast cancer	17634833	CNVD
Cancer	20215515	CNVD
Glioblastoma multiforme	21727940	CNVD
Prostate cancer	19363497	CNVD
Prostate cancer	17700571	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Ovarian cancer	21781307	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20964600	CNVD
Endometrial cancer	19261849	CNVD
Central neurocytomas	17123091	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Breast cancer	21486468	CNVD
Ovarian cancer	21486468	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:89625600-89663000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:89628400-89662000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:89631000-89663400	Weak transcription	Brain Angular Gyrus	brain
4	chr10:89633000-89663400	Weak transcription	Pancreas	Pancrea
5	chr10:89633400-89675800	Weak transcription	Small Intestine	intestine
6	chr10:89633800-89655600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:89636000-89655400	Weak transcription	Brain Substantia Nigra	brain
8	chr10:89636200-89661800	Weak transcription	Brain Anterior Caudate	brain
9	chr10:89639000-89655400	Weak transcription	Fetal Heart	heart
10	chr10:89639000-89655400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr10:89639000-89656200	Weak transcription	Stomach Mucosa	stomach
12	chr10:89641600-89663000	Weak transcription	Esophagus	oesophagus
13	chr10:89642400-89652400	Weak transcription	Aorta	Aorta
14	chr10:89642600-89657000	Strong transcription	Dnd41	blood
15	chr10:89644600-89654000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr10:89646600-89652600	Weak transcription	NHDF-Ad	bronchial
17	chr10:89646600-89663800	Weak transcription	Fetal Kidney	kidney
18	chr10:89646800-89652400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:89646800-89655800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr10:89646800-89657400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr10:89646800-89659400	Strong transcription	Fetal Thymus	thymus
22	chr10:89646800-89663000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:89647000-89652600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr10:89647000-89655400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr10:89647000-89667400	Weak transcription	HMEC	breast
26	chr10:89647000-89711200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr10:89647200-89652600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:89647200-89657400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr10:89647200-89662000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr10:89647200-89675400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr10:89647600-89655400	Weak transcription	Fetal Brain Female	brain
32	chr10:89647600-89656600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr10:89647600-89657000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr10:89647600-89671800	Weak transcription	HUVEC	blood vessel
35	chr10:89647800-89655600	Weak transcription	Liver	Liver
36	chr10:89647800-89657000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:89647800-89662000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr10:89647800-89665600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr10:89647800-89671000	Weak transcription	A549	lung
40	chr10:89648000-89652400	Weak transcription	NHLF	lung
41	chr10:89648000-89652600	Weak transcription	Brain Germinal Matrix	brain
42	chr10:89648000-89654600	Weak transcription	Psoas Muscle	Psoas
43	chr10:89648000-89656800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr10:89648000-89656800	Weak transcription	Fetal Intestine Small	intestine
45	chr10:89648000-89656800	Weak transcription	Left Ventricle	heart
46	chr10:89648000-89657800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr10:89648000-89657800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr10:89648000-89663000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr10:89648000-89663000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr10:89648000-89663000	Weak transcription	Lung	lung

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