Variant report

Variant	nsv550215
Chromosome Location	chr10:23801555-23869175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:23823920..23824575-chr10:24485139..24485966,2	MCF-7	breast:
2	chr10:23728102..23730078-chr10:23816965..23818958,2	MCF-7	breast:
3	chr10:23603372..23604417-chr10:23814073..23814964,4	MCF-7	breast:
4	chr10:23603400..23604235-chr10:23817414..23818155,2	MCF-7	breast:
5	chr10:23824120..23824761-chr10:23945358..23946278,2	MCF-7	breast:
6	chr10:23824029..23824984-chr10:23945349..23945918,2	MCF-7	breast:
7	chr10:23868855..23871481-chr10:23873151..23874989,2	MCF-7	breast:
8	chr10:23827963..23830375-chr10:23832627..23834235,2	K562	blood:
9	chr10:23793550..23795585-chr10:23803256..23805113,2	MCF-7	breast:
10	chr10:23827963..23830375-chr10:23832627..23834235,2	K562	blood:
11	chr10:23603368..23604260-chr10:23811826..23812666,2	MCF-7	breast:
12	chr10:23447039..23447588-chr10:23814282..23814946,2	MCF-7	breast:
13	chr10:23447128..23447880-chr10:23818832..23819678,2	MCF-7	breast:
14	chr10:23824023..23824576-chr10:23991762..23992457,2	MCF-7	breast:
15	chr10:23825077..23825913-chr10:23945671..23946360,2	MCF-7	breast:
16	chr10:23446783..23447757-chr10:23814314..23814989,2	MCF-7	breast:
17	chr10:23824140..23825043-chr10:23991541..23992489,3	MCF-7	breast:
18	chr10:23603846..23604395-chr10:23818883..23819635,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA1217-1	chr10:23864868-23864952	XLOC_008413
2	lnc-KIAA1217-1	chr10:23864529-23864632	XLOC_008413
3	lnc-KIAA1217-1	chr10:23864755-23864952	XLOC_008413
4	lnc-KIAA1217-1	chr10:23868992-23869012	XLOC_008413

No data

Variant related genes	Relation type
ENSG00000165312	chromatin interactions

Extended variants
information (count: 1436 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:1436 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10828469	chr10:23801555-23801556	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs78885929	chr10:23801573-23801574	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs576549912	chr10:23801577-23801578	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs547196143	chr10:23801578-23801579	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs555752764	chr10:23801599-23801600	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs572582105	chr10:23801645-23801646	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539469264	chr10:23801647-23801648	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541504268	chr10:23801654-23801655	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557785523	chr10:23801664-23801665	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374818366	chr10:23801676-23801677	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6482291	chr10:23801711-23801712	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546118604	chr10:23801712-23801713	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562636169	chr10:23801735-23801736	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147804817	chr10:23801781-23801782	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373287649	chr10:23801782-23801783	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77755768	chr10:23801784-23801785	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74771617	chr10:23801844-23801845	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs7100429	chr10:23801857-23801858	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs141092253	chr10:23801867-23801868	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs539638103	chr10:23801888-23801889	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs550499306	chr10:23801891-23801892	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs570368263	chr10:23801980-23801981	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs6482292	chr10:23802005-23802006	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560712230	chr10:23802010-23802011	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs112434342	chr10:23802038-23802039	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs7097155	chr10:23802046-23802047	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188505163	chr10:23802061-23802062	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs557959861	chr10:23802076-23802077	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs574900684	chr10:23802090-23802091	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs370835015	chr10:23802105-23802106	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs567168760	chr10:23802109-23802110	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs577014491	chr10:23802116-23802117	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545682111	chr10:23802127-23802128	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs115403586	chr10:23802138-23802139	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7078840	chr10:23802142-23802143	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145046213	chr10:23802175-23802176	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs561373603	chr10:23802202-23802203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147631104	chr10:23802213-23802214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552798641	chr10:23802224-23802225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140886267	chr10:23802230-23802231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117653161	chr10:23802235-23802236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533000940	chr10:23802257-23802258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370775936	chr10:23802259-23802260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367554420	chr10:23802265-23802266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56411865	chr10:23802266-23802267	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs367889524	chr10:23802272-23802273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181740323	chr10:23802278-23802279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114422386	chr10:23802284-23802285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575330066	chr10:23802285-23802286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536590851	chr10:23802288-23802289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	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
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23800800-23803200	Enhancers	Hela-S3	cervix
2	chr10:23801200-23801600	Enhancers	HMEC	breast
3	chr10:23801200-23801800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:23801200-23802000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:23801200-23802000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr10:23801200-23802000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:23801200-23802000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:23801200-23802200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr10:23801200-23802200	Flanking Active TSS	K562	blood
10	chr10:23801400-23801600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr10:23801400-23801600	Bivalent Enhancer	NHEK	skin
12	chr10:23801400-23801800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:23801400-23801800	Enhancers	A549	lung
14	chr10:23801400-23801800	Enhancers	HepG2	liver
15	chr10:23801400-23801800	Enhancers	HSMM	muscle
16	chr10:23801400-23801800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr10:23801400-23802200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr10:23801800-23802000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:23801800-23802000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr10:23801800-23803200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:23802000-23802200	Enhancers	Placenta	Placenta
22	chr10:23802800-23803400	Enhancers	Placenta	Placenta
23	chr10:23803000-23803800	Enhancers	HMEC	breast
24	chr10:23803000-23803800	Enhancers	NHEK	skin
25	chr10:23803200-23803400	Flanking Active TSS	Hela-S3	cervix
26	chr10:23803200-23803800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:23803200-23804000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:23803400-23803600	Enhancers	Hela-S3	cervix
29	chr10:23803600-23803800	Flanking Active TSS	Hela-S3	cervix
30	chr10:23803800-23805600	Enhancers	Hela-S3	cervix
31	chr10:23805600-23806800	Enhancers	Liver	Liver
32	chr10:23805600-23806800	Enhancers	HepG2	liver
33	chr10:23806200-23807000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr10:23806400-23807000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr10:23807000-23810400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr10:23807000-23810400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr10:23809000-23809200	Enhancers	Primary B cells from cord blood	blood
38	chr10:23809400-23809800	Weak transcription	Primary B cells from cord blood	blood
39	chr10:23809400-23811800	Enhancers	Primary B cells from peripheral blood	blood
40	chr10:23809600-23809800	Enhancers	Fetal Muscle Leg	muscle
41	chr10:23809800-23812000	Enhancers	Primary B cells from cord blood	blood
42	chr10:23810400-23810600	Enhancers	Fetal Muscle Leg	muscle
43	chr10:23810400-23811600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr10:23810400-23811800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr10:23810600-23811600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:23812000-23813200	Weak transcription	Primary B cells from cord blood	blood
47	chr10:23819600-23820200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:23819600-23820600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr10:23819800-23821600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr10:23820000-23820200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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