Variant report

Variant	nsv517973
Chromosome Location	chr6:38131442-38152460
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:28)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:38138513..38140843-chr6:38152378..38154915,2	K562	blood:
2	chr6:38137479..38141029-chr6:38143334..38147856,5	K562	blood:
3	chr6:38144288..38145943-chr6:38150370..38152832,2	MCF-7	breast:
4	chr22:50712906..50713463-chr6:38133425..38133925,2	MCF-7	breast:
5	chr6:38143298..38146088-chr6:38153690..38155707,2	K562	blood:
6	chr6:38143259..38145952-chr6:38146356..38150615,4	K562	blood:
7	chr6:38138513..38140843-chr6:38152378..38154915,2	K562	blood:
8	chr6:38137479..38141029-chr6:38143334..38147856,5	K562	blood:
9	chr6:38129827..38133473-chr6:38138909..38141756,3	K562	blood:
10	chr6:38134651..38137004-chr6:38141611..38143473,2	K562	blood:
11	chr6:38144288..38145943-chr6:38150370..38152832,2	MCF-7	breast:
12	chr6:38138220..38140617-chr6:38142892..38144834,2	K562	blood:
13	chr6:38137479..38141029-chr6:38144999..38147856,3	K562	blood:
14	chr6:38149475..38152864-chr6:38153550..38156647,3	K562	blood:
15	chr6:38148276..38150715-chr6:38151734..38153951,2	K562	blood:
16	chr6:38140845..38143617-chr6:38230207..38231726,2	MCF-7	breast:
17	chr17:18793387..18794889-chr6:38147135..38149735,2	MCF-7	breast:
18	chr6:38150165..38152745-chr6:38153295..38155930,2	MCF-7	breast:
19	chr6:38138220..38140617-chr6:38142892..38144834,2	K562	blood:
20	chr6:38129827..38133473-chr6:38138909..38141756,3	K562	blood:
21	chr6:38148276..38150715-chr6:38151734..38153951,2	K562	blood:
22	chr6:38143259..38145952-chr6:38146356..38150615,4	K562	blood:
23	chr6:38144847..38147788-chr6:38455910..38458463,2	MCF-7	breast:
24	chr6:38134651..38137004-chr6:38141611..38143473,2	K562	blood:
25	chr6:38137479..38141029-chr6:38144999..38147856,3	K562	blood:
26	chr6:38129805..38132661-chr6:38134608..38136231,2	K562	blood:
27	chr6:38147181..38149521-chr6:38161439..38163786,2	K562	blood:
28	chr6:38129805..38132661-chr6:38134608..38136231,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTBD9-1	chr6:38131289-38131580	XLOC_005706
2	lnc-ZFAND3-1	chr6:38131290-38132113	NONHSAT112300
3	lnc-MDGA1-2	chr6:38141449-38141561	ENSG00000225874.1
4	lnc-ZFAND3-4	chr6:38142931-38144082	NONHSAT112308
5	lnc-MDGA1-2	chr6:38144864-38145069	ENSG00000225874.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	BTBD9	hsa-let-7b-5p	chr6:38142495-38142489

Extended variants
information (count: 974 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:974 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2073021	chr6:38131442-38131443	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs72853657	chr6:38131459-38131460	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs182533157	chr6:38131487-38131488	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs553584636	chr6:38131495-38131496	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs77804971	chr6:38131525-38131526	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs188048384	chr6:38131526-38131527	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs555979902	chr6:38131532-38131533	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs541487641	chr6:38131555-38131556	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs143977884	chr6:38131557-38131558	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs543513849	chr6:38131561-38131562	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs563286449	chr6:38131562-38131563	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs532101540	chr6:38131566-38131567	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs563512297	chr6:38131567-38131568	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs545481624	chr6:38131568-38131569	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs141464640	chr6:38131569-38131570	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs374490553	chr6:38131570-38131571	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs60723975	chr6:38131587-38131588	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs559642939	chr6:38131601-38131602	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs528360857	chr6:38131630-38131631	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs201841187	chr6:38131634-38131635	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs548394136	chr6:38131723-38131724	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs76122588	chr6:38131748-38131749	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs191797051	chr6:38131766-38131767	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs74843283	chr6:38131785-38131786	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs1569657	chr6:38131797-38131798	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs10642837	chr6:38131851-38131852	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs57569458	chr6:38131852-38131853	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs397946773	chr6:38131853-38131854	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs35738246	chr6:38131858-38131859	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs546667400	chr6:38131862-38131863	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs567186594	chr6:38131887-38131888	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs183275691	chr6:38131891-38131892	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs149438736	chr6:38131921-38131922	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs556016518	chr6:38131923-38131924	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs201820309	chr6:38131926-38131927	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs529703171	chr6:38131932-38131933	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs187247707	chr6:38131938-38131939	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs192173651	chr6:38131947-38131948	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs77564750	chr6:38131981-38131982	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs557046563	chr6:38132006-38132007	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs576858942	chr6:38132016-38132017	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs545820673	chr6:38132121-38132122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559066477	chr6:38132162-38132163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573115621	chr6:38132203-38132204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541725713	chr6:38132252-38132253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561557611	chr6:38132292-38132293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530572297	chr6:38132326-38132327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549458035	chr6:38132327-38132328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9462396	chr6:38132336-38132337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs184425370	chr6:38132363-38132364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38091400-38141800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:38111800-38138200	Weak transcription	Fetal Brain Female	brain
3	chr6:38112400-38138200	Weak transcription	Fetal Brain Male	brain
4	chr6:38113200-38134400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:38113200-38138000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:38114400-38138200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:38117200-38131800	Weak transcription	Stomach Mucosa	stomach
8	chr6:38117600-38137200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:38119800-38134800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:38120400-38132800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:38121000-38159600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:38121200-38136400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:38121400-38136600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr6:38121400-38141000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr6:38121600-38131600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:38121600-38132600	Weak transcription	Osteobl	bone
17	chr6:38121600-38137800	Weak transcription	Colonic Mucosa	Colon
18	chr6:38121800-38132200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:38121800-38132600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:38121800-38132800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:38121800-38138000	Weak transcription	Dnd41	blood
22	chr6:38121800-38153600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr6:38122000-38137600	Weak transcription	Esophagus	oesophagus
24	chr6:38122200-38134200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:38122800-38135800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:38123200-38132600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:38123200-38136800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:38123200-38153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:38123400-38131600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:38123400-38155400	Weak transcription	Aorta	Aorta
31	chr6:38123400-38157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:38123400-38176800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:38123600-38131600	Weak transcription	Adipose Nuclei	Adipose
34	chr6:38123600-38132600	Weak transcription	NHDF-Ad	bronchial
35	chr6:38123600-38138400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:38123600-38140800	Weak transcription	Placenta	Placenta
37	chr6:38123600-38144200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr6:38123600-38153000	Weak transcription	Primary B cells from cord blood	blood
39	chr6:38123800-38141400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:38123800-38151200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:38124000-38131600	Weak transcription	HepG2	liver
42	chr6:38124000-38132800	Weak transcription	NHLF	lung
43	chr6:38124000-38152200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:38124200-38137000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr6:38124200-38151800	Weak transcription	Brain Anterior Caudate	brain
46	chr6:38124400-38132400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:38124400-38136200	Weak transcription	Fetal Lung	lung
48	chr6:38124400-38144200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:38127400-38137800	Weak transcription	Gastric	stomach
50	chr6:38127400-38141000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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