Variant report

Variant	nsv894814
Chromosome Location	chr10:6078032-6100725
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:33)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6079612..6081921-chr10:6120076..6122604,2	K562	blood:
2	chr10:6088691..6090332-chr10:6090960..6092832,2	K562	blood:
3	chr10:6017579..6019952-chr10:6092243..6094639,2	MCF-7	breast:
4	chr10:6080660..6082539-chr10:6112138..6114750,2	K562	blood:
5	chr10:6092360..6095172-chr10:6096702..6099440,2	K562	blood:
6	chr10:6079406..6080922-chr10:6086092..6088602,2	K562	blood:
7	chr10:6055837..6056746-chr10:6092511..6093199,3	MCF-7	breast:
8	chr10:6081332..6082198-chr22:46646141..46646863,2	Hela-S3	cervix:
9	chr10:5991064..5992039-chr10:6092447..6092993,4	K562	blood:
10	chr10:6077154..6078797-chr10:6082594..6084607,2	K562	blood:
11	chr10:6088691..6090332-chr10:6090960..6092832,2	K562	blood:
12	chr10:6079422..6081935-chr10:6085039..6087592,2	K562	blood:
13	chr10:6056251..6056808-chr10:6092449..6093422,2	K562	blood:
14	chr10:6076656..6079069-chr10:6086121..6089076,2	MCF-7	breast:
15	chr10:6076770..6078831-chr10:6080611..6082982,2	MCF-7	breast:
16	chr10:6087719..6090025-chr10:6099412..6101366,2	MCF-7	breast:
17	chr10:6079406..6080922-chr10:6086092..6088602,2	K562	blood:
18	chr10:6099232..6101720-chr10:6133496..6135887,2	K562	blood:
19	chr10:6082910..6085859-chr10:6100241..6103147,2	K562	blood:
20	chr10:6092360..6095172-chr10:6096702..6099440,2	K562	blood:
21	chr10:6018934..6021377-chr10:6078556..6080537,2	K562	blood:
22	chr10:6079422..6081935-chr10:6085039..6087592,2	K562	blood:
23	chr10:4891634..4892494-chr10:6092486..6093368,2	K562	blood:
24	chr10:6070515..6072335-chr10:6076874..6078701,2	K562	blood:
25	chr10:6077154..6078797-chr10:6082594..6084607,2	K562	blood:
26	chr10:6076770..6078831-chr10:6080611..6082982,2	MCF-7	breast:
27	chr10:6076656..6079069-chr10:6086121..6089076,2	MCF-7	breast:
28	chr10:6082910..6085859-chr10:6100241..6103147,2	K562	blood:
29	chr10:6083497..6085137-chr10:6128481..6130673,2	MCF-7	breast:
30	chr10:6084469..6086008-chr10:6242758..6245153,2	MCF-7	breast:
31	chr10:6068386..6070210-chr10:6087289..6089702,2	K562	blood:
32	chr10:6081523..6083150-chr10:6133461..6135745,2	K562	blood:
33	chr10:6087719..6090025-chr10:6099412..6101366,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL15RA-4	chr10:6085748-6086292	NONHSAT011203
2	lnc-RBM17-2	chr10:6078148-6078390	ENSG00000229664.1
3	lnc-RBM17-2	chr10:6077903-6078048	ENSG00000229664.1

No data

Variant related genes	Relation type
ENSG00000134470	chromatin interactions
ENSG00000205643	chromatin interactions
ENSG00000214015	chromatin interactions
ENSG00000170525	chromatin interactions
ENSG00000213994	chromatin interactions

Extended variants
information (count: 886 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:886 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6602391	chr10:6078032-6078033	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189997459	chr10:6078068-6078069	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6602392	chr10:6078079-6078080	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs35159693	chr10:6078095-6078096	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532379092	chr10:6078134-6078135	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182581734	chr10:6078143-6078144	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143414589	chr10:6078188-6078189	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs552321808	chr10:6078328-6078329	Enhancers Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs12722661	chr10:6078337-6078338	Enhancers Weak transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs139228249	chr10:6078342-6078343	Enhancers Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs573901704	chr10:6078366-6078367	Enhancers Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs12722523	chr10:6078390-6078391	Enhancers Weak transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs376763802	chr10:6078398-6078399	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6602393	chr10:6078404-6078405	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577792016	chr10:6078405-6078406	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76709106	chr10:6078412-6078413	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201648318	chr10:6078474-6078475	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553841450	chr10:6078477-6078478	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12722659	chr10:6078479-6078480	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542627984	chr10:6078481-6078482	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561386582	chr10:6078494-6078495	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7100984	chr10:6078539-6078540	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs6602394	chr10:6078541-6078542	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs12722522	chr10:6078553-6078554	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532463819	chr10:6078566-6078567	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377150215	chr10:6078572-6078573	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547536295	chr10:6078577-6078578	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200890022	chr10:6078626-6078627	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370485037	chr10:6078672-6078673	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530015816	chr10:6078700-6078701	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12722658	chr10:6078764-6078765	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550028529	chr10:6078778-6078779	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs386740407	chr10:6078790-6078791	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs116146227	chr10:6078791-6078792	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567551834	chr10:6078792-6078793	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs147516393	chr10:6078795-6078796	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12722521	chr10:6078796-6078797	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs571426215	chr10:6078815-6078816	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs139526249	chr10:6078826-6078827	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553557500	chr10:6078864-6078865	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201895436	chr10:6078867-6078868	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs367587137	chr10:6078874-6078875	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs572119213	chr10:6078875-6078876	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542241385	chr10:6078932-6078933	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs11597237	chr10:6079017-6079018	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs187700174	chr10:6079032-6079033	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7893467	chr10:6079035-6079036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565249731	chr10:6079144-6079145	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375283330	chr10:6079151-6079152	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12722520	chr10:6079152-6079153	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6066600-6079600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:6075000-6078600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:6075400-6079200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr10:6075800-6078800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
5	chr10:6075800-6079000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:6076000-6079000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr10:6076000-6079600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:6076600-6079200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:6076800-6081000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:6077000-6080600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr10:6077000-6080600	Enhancers	Fetal Thymus	thymus
12	chr10:6077000-6083400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr10:6077600-6079800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr10:6077800-6078200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:6077800-6078400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr10:6077800-6079400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr10:6077800-6080200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr10:6078000-6078200	Enhancers	Right Ventricle	heart
19	chr10:6078000-6079600	Enhancers	Primary T cells from cord blood	blood
20	chr10:6078000-6081200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr10:6078200-6080600	Enhancers	Primary B cells from peripheral blood	blood
22	chr10:6078200-6082200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr10:6078800-6079000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:6078800-6079200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:6078800-6079200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:6078800-6079200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:6078800-6079200	Enhancers	HMEC	breast
28	chr10:6078800-6080600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr10:6078800-6080800	Enhancers	GM12878-XiMat	blood
30	chr10:6078800-6082000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr10:6078800-6082200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
32	chr10:6079000-6079200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr10:6079000-6079400	Enhancers	Primary B cells from cord blood	blood
34	chr10:6079000-6079400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
35	chr10:6079000-6079600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr10:6079000-6080200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr10:6079000-6080600	Enhancers	Thymus	Thymus
38	chr10:6079200-6079600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr10:6079200-6080800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
40	chr10:6079400-6079600	Bivalent Enhancer	K562	blood
41	chr10:6079400-6080400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr10:6079400-6080600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr10:6079600-6079800	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr10:6079600-6079800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr10:6079600-6080200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:6079600-6080200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr10:6079800-6080000	Enhancers	Primary T cells from cord blood	blood
48	chr10:6079800-6080400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr10:6079800-6080600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr10:6079800-6080600	Enhancers	K562	blood

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