Variant report

Variant	esv3447385
Chromosome Location	chr6:38132274-38136172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38134651..38137004-chr6:38141611..38143473,2	K562	blood:
2	chr6:38129827..38133473-chr6:38138909..38141756,3	K562	blood:
3	chr6:38129805..38132661-chr6:38134608..38136231,2	K562	blood:
4	chr22:50712906..50713463-chr6:38133425..38133925,2	MCF-7	breast:
5	chr6:38129805..38132661-chr6:38134608..38136231,2	K562	blood:

Extended variants
information (count: 207 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561557611	chr6:38132292-38132293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530572297	chr6:38132326-38132327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549458035	chr6:38132327-38132328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9462396	chr6:38132336-38132337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184425370	chr6:38132363-38132364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546999242	chr6:38132378-38132379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529602272	chr6:38132385-38132386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536159275	chr6:38132399-38132400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549656023	chr6:38132408-38132409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549540167	chr6:38132435-38132436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375224245	chr6:38132436-38132437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538483316	chr6:38132440-38132441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558370396	chr6:38132442-38132443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576900707	chr6:38132448-38132449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539134632	chr6:38132455-38132456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114886931	chr6:38132458-38132459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572712161	chr6:38132466-38132467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11755721	chr6:38132483-38132484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561694377	chr6:38132547-38132548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9462397	chr6:38132552-38132553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544036948	chr6:38132583-38132584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9462398	chr6:38132606-38132607	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186942777	chr6:38132619-38132620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540331586	chr6:38132652-38132653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193009053	chr6:38132687-38132688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373281083	chr6:38132689-38132690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529223363	chr6:38132697-38132698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs56957219	chr6:38132709-38132710	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184128861	chr6:38132720-38132721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532023638	chr6:38132721-38132722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552027476	chr6:38132728-38132729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571716472	chr6:38132742-38132743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377215188	chr6:38132745-38132746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs60075988	chr6:38132751-38132752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552747703	chr6:38132782-38132783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145254628	chr6:38132850-38132851	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs566558663	chr6:38132851-38132852	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs535121012	chr6:38132913-38132914	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs117827188	chr6:38132918-38132919	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs560056205	chr6:38132947-38132948	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs575187852	chr6:38132983-38132984	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs550660906	chr6:38133020-38133021	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs11752799	chr6:38133030-38133031	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs140153392	chr6:38133040-38133041	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs189503651	chr6:38133067-38133068	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs201569661	chr6:38133068-38133069	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs200478383	chr6:38133087-38133088	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs541398237	chr6:38133091-38133092	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs542879428	chr6:38133109-38133110	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs145673351	chr6:38133115-38133116	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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

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

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	chr6:38117600-38137200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:38119800-38134800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:38120400-38132800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:38121000-38159600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:38121200-38136400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:38121400-38136600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:38121400-38141000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr6:38121600-38132600	Weak transcription	Osteobl	bone
15	chr6:38121600-38137800	Weak transcription	Colonic Mucosa	Colon
16	chr6:38121800-38132600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:38121800-38132800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:38121800-38138000	Weak transcription	Dnd41	blood
19	chr6:38121800-38153600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:38122000-38137600	Weak transcription	Esophagus	oesophagus
21	chr6:38122200-38134200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:38122800-38135800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:38123200-38132600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:38123200-38136800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:38123200-38153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:38123400-38155400	Weak transcription	Aorta	Aorta
27	chr6:38123400-38157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:38123400-38176800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:38123600-38132600	Weak transcription	NHDF-Ad	bronchial
30	chr6:38123600-38138400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:38123600-38140800	Weak transcription	Placenta	Placenta
32	chr6:38123600-38144200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr6:38123600-38153000	Weak transcription	Primary B cells from cord blood	blood
34	chr6:38123800-38141400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:38123800-38151200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:38124000-38132800	Weak transcription	NHLF	lung
37	chr6:38124000-38152200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:38124200-38137000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr6:38124200-38151800	Weak transcription	Brain Anterior Caudate	brain
40	chr6:38124400-38132400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:38124400-38136200	Weak transcription	Fetal Lung	lung
42	chr6:38124400-38144200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:38127400-38137800	Weak transcription	Gastric	stomach
44	chr6:38127400-38141000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:38127600-38140600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:38128800-38133600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:38129200-38145600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:38129400-38136400	Weak transcription	Brain Germinal Matrix	brain
49	chr6:38129400-38137000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr6:38129400-38141200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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