Variant report

Variant	esv3344067
Chromosome Location	chr10:92968522-92970520
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:92921955..92923969-chr10:92967629..92969644,3	K562	blood:
2	chr10:92969321..92971219-chr10:92974173..92975852,2	MCF-7	breast:
3	chr10:92969491..92972422-chr10:92980099..92981687,2	K562	blood:

Variant related genes	Relation type
ENSG00000180628	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541670486	chr10:92968529-92968530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72815408	chr10:92968587-92968588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530470247	chr10:92968679-92968680	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs111829921	chr10:92968706-92968707	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs549883015	chr10:92968708-92968709	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569748409	chr10:92968733-92968734	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs370420209	chr10:92968826-92968827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532433184	chr10:92968833-92968834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145116406	chr10:92968924-92968925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557920378	chr10:92968939-92968940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17106432	chr10:92968949-92968950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543298681	chr10:92969013-92969014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563559202	chr10:92969016-92969017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533741204	chr10:92969055-92969056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200495344	chr10:92969202-92969203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201892816	chr10:92969232-92969233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200063194	chr10:92969233-92969234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559611508	chr10:92969520-92969521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529190828	chr10:92969533-92969534	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375713292	chr10:92969550-92969551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370183711	chr10:92969551-92969552	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371161307	chr10:92969554-92969555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145754127	chr10:92969556-92969557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs55816144	chr10:92969559-92969560	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201670497	chr10:92969560-92969561	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200536765	chr10:92969561-92969562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111722559	chr10:92969562-92969563	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs78572572	chr10:92969563-92969564	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547617955	chr10:92969574-92969575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141268334	chr10:92969614-92969615	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536584249	chr10:92969635-92969636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555851626	chr10:92969674-92969675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576129792	chr10:92969685-92969686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538689605	chr10:92969687-92969688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373637339	chr10:92969689-92969690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs187916841	chr10:92969798-92969799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs192244178	chr10:92969833-92969834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7908154	chr10:92969842-92969843	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541260552	chr10:92969858-92969859	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561556143	chr10:92969863-92969864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77805456	chr10:92969888-92969889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs544108144	chr10:92969913-92969914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs58885299	chr10:92969926-92969927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185884199	chr10:92969962-92969963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs189437260	chr10:92969994-92969995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559418992	chr10:92970113-92970114	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541794048	chr10:92970156-92970157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144975291	chr10:92970175-92970176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192391180	chr10:92970253-92970254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs368167985	chr10:92970261-92970262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:92959200-92979200	Weak transcription	NHLF	lung
2	chr10:92959400-92979800	Weak transcription	Esophagus	oesophagus
3	chr10:92960000-92970600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:92961200-92971400	Weak transcription	Lung	lung
5	chr10:92962000-92968600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr10:92962200-92970400	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:92963000-92971200	Weak transcription	K562	blood
8	chr10:92964600-92970400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr10:92964600-92973800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr10:92966000-92969200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:92966600-92969800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:92966600-92969800	Weak transcription	Gastric	stomach
13	chr10:92966600-92970000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr10:92966600-92971400	Weak transcription	Right Atrium	heart
15	chr10:92966600-92980000	Weak transcription	Ovary	ovary
16	chr10:92966800-92968600	Enhancers	GM12878-XiMat	blood
17	chr10:92966800-92969600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr10:92966800-92969600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr10:92966800-92969800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr10:92966800-92969800	Weak transcription	Fetal Intestine Small	intestine
21	chr10:92966800-92969800	Weak transcription	Fetal Thymus	thymus
22	chr10:92966800-92969800	Weak transcription	Left Ventricle	heart
23	chr10:92966800-92969800	Weak transcription	Psoas Muscle	Psoas
24	chr10:92966800-92970000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:92966800-92970000	Weak transcription	Fetal Heart	heart
26	chr10:92966800-92971200	Weak transcription	Brain Angular Gyrus	brain
27	chr10:92967000-92970200	Weak transcription	Thymus	Thymus
28	chr10:92967200-92968600	Weak transcription	Primary B cells from cord blood	blood
29	chr10:92967200-92968600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr10:92967200-92978800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr10:92967400-92969600	Weak transcription	Primary T cells from cord blood	blood
32	chr10:92967600-92969200	Enhancers	HepG2	liver
33	chr10:92967800-92971600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr10:92968000-92968600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr10:92968000-92968600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr10:92968000-92968600	Enhancers	Small Intestine	intestine
37	chr10:92968000-92968800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr10:92968000-92968800	Enhancers	Brain Cingulate Gyrus	brain
39	chr10:92968000-92968800	Enhancers	Brain Hippocampus Middle	brain
40	chr10:92968000-92968800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr10:92968000-92970800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr10:92968000-92971800	Enhancers	Primary B cells from peripheral blood	blood
43	chr10:92968200-92968600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr10:92968200-92968600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr10:92968200-92968600	Enhancers	Fetal Intestine Large	intestine
46	chr10:92968200-92968600	Enhancers	Pancreas	Pancrea
47	chr10:92968200-92969000	Enhancers	Dnd41	blood
48	chr10:92968200-92969200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr10:92968200-92969200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr10:92968200-92970600	Enhancers	Sigmoid Colon	Sigmoid Colon

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