Variant report

Variant	nsv965714
Chromosome Location	chr6:34740808-34741703
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:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:34622560..34624840-chr6:34739559..34741975,2	K562	blood:
2	chr6:34739182..34741863-chr6:34755673..34758068,2	K562	blood:
3	chr6:34738626..34740977-chr6:34741967..34744356,2	K562	blood:
4	chr6:34723826..34725518-chr6:34739318..34741861,2	MCF-7	breast:
5	chr6:34736115..34738612-chr6:34739380..34741719,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	SNRPC	hsa-miR-23b-3p	chr6:34741535-34741542
2	SNRPC	hsa-miR-16-5p	chr6:34741398-34741418
3	SNRPC	hsa-miR-23b-3p	chr6:34741522-34741542

Variant related genes	Relation type
ENSG00000124562	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574919104	chr6:34740868-34740869	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs189689268	chr6:34740884-34740885	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs544295300	chr6:34740942-34740943	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs370403769	chr6:34740959-34740960	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556199540	chr6:34741020-34741021	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577731624	chr6:34741063-34741064	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs11968972	chr6:34741094-34741095	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs560564159	chr6:34741098-34741099	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527966192	chr6:34741133-34741134	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543348801	chr6:34741165-34741166	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11968954	chr6:34741174-34741175	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs2236392	chr6:34741175-34741176	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550403916	chr6:34741190-34741191	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571327739	chr6:34741199-34741200	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372055030	chr6:34741230-34741231	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs146281491	chr6:34741279-34741280	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376581661	chr6:34741298-34741299	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11554475	chr6:34741311-34741312	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547055675	chr6:34741346-34741347	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369537736	chr6:34741374-34741375	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11554476	chr6:34741415-34741416	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
22	rs565703524	chr6:34741439-34741440	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149354688	chr6:34741537-34741538	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
24	rs374389948	chr6:34741556-34741557	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11961823	chr6:34741582-34741583	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182251094	chr6:34741623-34741624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs79741623	chr6:34741661-34741662	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569625428	chr6:34741678-34741679	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs35597448	chr6:34741700-34741701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369544683	chr6:34741701-34741702	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Esophageal adenocarcinoma	18820669	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
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34726000-34747800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:34726000-34750000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:34726800-34747800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:34727000-34743400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:34727000-34743800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr6:34727000-34744000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:34727000-34744200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:34727000-34745200	Strong transcription	Fetal Thymus	thymus
9	chr6:34727200-34743800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:34727200-34743800	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:34727200-34746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:34727400-34745200	Strong transcription	Fetal Intestine Large	intestine
13	chr6:34727800-34744800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:34727800-34745200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:34728400-34743200	Strong transcription	Brain Germinal Matrix	brain
16	chr6:34728400-34744400	Strong transcription	Dnd41	blood
17	chr6:34728600-34743800	Strong transcription	Liver	Liver
18	chr6:34728600-34748400	Weak transcription	Fetal Heart	heart
19	chr6:34728800-34745400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr6:34729200-34741400	Strong transcription	Ovary	ovary
21	chr6:34729400-34743600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:34729400-34744600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:34729600-34743200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:34729600-34743200	Strong transcription	Placenta	Placenta
25	chr6:34729600-34743200	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:34729600-34743600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr6:34729600-34743800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:34729600-34743800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr6:34729600-34743800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr6:34729600-34744400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:34729600-34745000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:34729800-34743400	Strong transcription	Thymus	Thymus
33	chr6:34729800-34743800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:34729800-34743800	Strong transcription	Adipose Nuclei	Adipose
35	chr6:34730200-34741800	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr6:34730200-34743800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:34730400-34743600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:34731200-34741200	Weak transcription	Fetal Brain Male	brain
39	chr6:34731200-34744000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:34731800-34743400	Strong transcription	Spleen	Spleen
41	chr6:34732400-34743000	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr6:34732400-34743200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:34732400-34743800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:34732600-34743600	Strong transcription	HepG2	liver
45	chr6:34732600-34744200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr6:34732800-34741600	Strong transcription	HUVEC	blood vessel
47	chr6:34732800-34741800	Strong transcription	GM12878-XiMat	blood
48	chr6:34732800-34743800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr6:34732800-34743800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr6:34732800-34745000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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