Variant report

Variant	nsv825565
Chromosome Location	chr10:112670311-112670825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:112670688-112670754	MCF-7	breast:	n/a	n/a
2	POLR2A	chr10:112669924-112670802	GM12891	blood:	n/a	n/a
3	POLR2A	chr10:112670310-112670336	MCF-7	breast:	n/a	n/a
4	POLR2A	chr10:112669694-112671743	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr10:112670540-112670636	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:112670418-112670522	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:112670535-112670722	K562	blood:	n/a	n/a
8	POLR2A	chr10:112670400-112670438	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr10:112669544-112670912	GM12878	blood:	n/a	n/a
10	POLR2A	chr10:112670385-112670467	MCF-7	breast:	n/a	n/a
11	POLR2A	chr10:112670475-112670519	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr10:112670385-112670577	ProgFib	skin:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:112670508-112670558	SK-N-SH	brain:	n/a
2	chr10:112670508-112670558	PrEC	prostate:	n/a
3	chr10:112670508-112670558	SK-N-SH_RA	brain:	n/a
4	chr10:112670508-112670558	NB4	blood:	n/a
5	chr10:112670508-112670558	AG09319	gingival:	n/a
6	chr10:112670508-112670558	AG04449	skin:	fetal
7	chr10:112670508-112670558	HCT-116	colon:	n/a
8	chr10:112670508-112670558	H1-hESC	embryonic stem cell:	embryo
9	chr10:112670508-112670558	HRPEpiC	eye:	n/a
10	chr10:112670508-112670558	HepG2	liver:	n/a
11	chr10:112670508-112670558	ProgFib	skin:	n/a
12	chr10:112670508-112670558	CMK	blood:	n/a
13	chr10:112670508-112670558	AoSMC	blood vessel:	n/a
14	chr10:112670508-112670558	GM12878	blood:	n/a
15	chr10:112670508-112670558	HCF	heart:	n/a
16	chr10:112670508-112670558	RPTEC	kidney:	n/a
17	chr10:112670508-112670558	NHDF-neo	bronchial:	n/a
18	chr10:112670508-112670558	ECC-1	luminal epithelium:	n/a
19	chr10:112670508-112670558	HCM	heart:	n/a
20	chr10:112670508-112670558	HIPEpiC	eye:	n/a
21	chr10:112670508-112670558	HMEC	breast:	n/a
22	chr10:112670508-112670558	HCPEpiC	choroid plexus:	n/a
23	chr10:112670508-112670558	HNPCEpiC	eye:	n/a
24	chr10:112670508-112670558	GM12892	blood:	n/a
25	chr10:112670508-112670558	HUVEC	blood vessel:	n/a
26	chr10:112670508-112670558	T-47D	breast:	n/a
27	chr10:112670508-112670558	PANC-1	pancreas:	n/a
28	chr10:112670508-112670558	MCF10A-Er-Src	breast:	n/a
29	chr10:112670508-112670558	LNCaP	prostate:	n/a
30	chr10:112670508-112670558	Jurkat	blood:	n/a
31	chr10:112670508-112670558	GM06990	blood:	n/a
32	chr10:112670508-112670558	HEK293	kidney:	embryo
33	chr10:112670508-112670558	SK-N-MC	brain:	n/a
34	chr10:112670508-112670558	HPAEpiC	pulmonary alveolar:	n/a
35	chr10:112670508-112670558	K562	blood:	n/a
36	chr10:112670508-112670558	BE2_C	brain:	n/a
37	chr10:112670508-112670558	IMR90	lung:	fetal
38	chr10:112670508-112670558	MCF-7	breast:	n/a
39	chr10:112670508-112670558	SKMC	muscle:	n/a
40	chr10:112670508-112670558	GM19239	blood:	n/a
41	chr10:112670508-112670558	GM12891	blood:	n/a
42	chr10:112670508-112670558	HRE	kidney:	n/a
43	chr10:112670508-112670558	ovcar-3	ovarian:	n/a
44	chr10:112670508-112670558	A549	lung:	n/a
45	chr10:112670508-112670558	Caco-2	colon:	n/a
46	chr10:112670508-112670558	Hela-S3	cervix:	n/a
47	chr10:112670508-112670558	AG09309	skin:	n/a
48	chr10:112670508-112670558	U87	brain:	n/a
49	chr10:112670508-112670558	NT2-D1	testis:	n/a
50	chr10:112670508-112670558	AG10803	skin:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:112664593..112668677-chr10:112669632..112672354,5	MCF-7	breast:
2	chr10:112655817..112658668-chr10:112670355..112672823,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SHOC2-3	chr10:112670354-112672002	ENSG00000270589.1
2	lnc-SHOC2-3	chr10:112670356-112672010	NONHSAT016372

No data

Variant related genes	Relation type
ENSG00000270589	TF binding region
ENSG00000270589	CpG island
ENSG00000214413	chromatin interactions
ENSG00000265827	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139040429	chr10:112670391-112670392	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs539736386	chr10:112670400-112670401	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs535215607	chr10:112670402-112670403	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs182287928	chr10:112670463-112670464	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs568838690	chr10:112670489-112670490	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs539314016	chr10:112670516-112670517	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs558047468	chr10:112670519-112670520	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs572922853	chr10:112670527-112670528	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs76529834	chr10:112670530-112670531	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs555632965	chr10:112670570-112670571	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs189072322	chr10:112670577-112670578	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs34193249	chr10:112670579-112670580	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs544762022	chr10:112670593-112670594	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs535438339	chr10:112670615-112670616	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs35369916	chr10:112670622-112670623	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533368631	chr10:112670643-112670644	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs113141494	chr10:112670655-112670656	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs114352896	chr10:112670662-112670663	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs372165140	chr10:112670665-112670666	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs528011359	chr10:112670732-112670733	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs533967541	chr10:112670739-112670740	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs549158655	chr10:112670747-112670748	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs561194471	chr10:112670754-112670755	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs35803384	chr10:112670803-112670804	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myxofibrosarcoma	16751306	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	16616336	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Sezary syndrome	18413736	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112632800-112678000	Weak transcription	Lung	lung
2	chr10:112632800-112678200	Weak transcription	Spleen	Spleen
3	chr10:112634800-112677400	Weak transcription	HUVEC	blood vessel
4	chr10:112644200-112678000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:112644800-112675000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:112646400-112676400	Weak transcription	K562	blood
7	chr10:112647200-112677400	Weak transcription	Fetal Brain Male	brain
8	chr10:112656200-112672200	Weak transcription	Fetal Heart	heart
9	chr10:112656200-112677400	Weak transcription	Stomach Mucosa	stomach
10	chr10:112656400-112676400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:112656400-112677600	Weak transcription	Right Ventricle	heart
12	chr10:112657200-112672400	Weak transcription	Fetal Intestine Small	intestine
13	chr10:112657200-112675000	Weak transcription	Ovary	ovary
14	chr10:112657400-112672800	Weak transcription	HepG2	liver
15	chr10:112657400-112677600	Weak transcription	Psoas Muscle	Psoas
16	chr10:112657400-112677600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr10:112657400-112677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:112657400-112677800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr10:112657400-112678000	Weak transcription	Gastric	stomach
20	chr10:112657600-112677600	Weak transcription	Fetal Brain Female	brain
21	chr10:112659200-112676400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr10:112659400-112677600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr10:112659600-112677600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr10:112659800-112675800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr10:112660200-112676000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr10:112660400-112675800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr10:112660400-112676200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr10:112660400-112677000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr10:112660600-112677200	Weak transcription	Dnd41	blood
30	chr10:112661000-112677000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr10:112661000-112677200	Weak transcription	Fetal Intestine Large	intestine
32	chr10:112661200-112676400	Weak transcription	Aorta	Aorta
33	chr10:112661400-112671000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr10:112661600-112677600	Weak transcription	Brain Germinal Matrix	brain
35	chr10:112661800-112675000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr10:112661800-112676000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:112662000-112676000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr10:112662200-112675600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:112662200-112676400	Weak transcription	Adipose Nuclei	Adipose
40	chr10:112662200-112677200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr10:112662400-112671800	Weak transcription	NH-A	brain
42	chr10:112662400-112676200	Weak transcription	Liver	Liver
43	chr10:112662400-112676400	Weak transcription	Fetal Kidney	kidney
44	chr10:112662400-112676600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr10:112662600-112671800	Weak transcription	HSMMtube	muscle
46	chr10:112662600-112671800	Weak transcription	NHDF-Ad	bronchial
47	chr10:112663000-112676000	Weak transcription	A549	lung
48	chr10:112663200-112671600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr10:112663200-112671800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr10:112663200-112672200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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