Variant report

Variant	esv3335005
Chromosome Location	chr6:36698846-36699416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36692637..36694151-chr6:36698641..36700541,2	MCF-7	breast:
2	chr6:36699118..36702234-chr6:36702324..36705046,3	K562	blood:
3	chr6:36561612..36564233-chr6:36698669..36701218,2	MCF-7	breast:
4	chr6:36689656..36693910-chr6:36696758..36700115,6	K562	blood:
5	chr6:36693621..36695483-chr6:36698291..36701067,2	MCF-7	breast:
6	chr6:36645663..36650199-chr6:36694521..36699153,6	MCF-7	breast:
7	chr6:36575587..36577672-chr6:36699166..36700977,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112081	chromatin interactions
ENSG00000220349	chromatin interactions
ENSG00000124762	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181972132	chr6:36698879-36698880	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs6917167	chr6:36698900-36698901	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs144806629	chr6:36698918-36698919	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs553397961	chr6:36698939-36698940	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs427952	chr6:36698952-36698953	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112332494	chr6:36698954-36698955	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs111540614	chr6:36698963-36698964	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs539751156	chr6:36698965-36698966	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs71980135	chr6:36698966-36698967	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs70975179	chr6:36698968-36698969	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs72310205	chr6:36698969-36698970	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs202098834	chr6:36698971-36698972	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs148333639	chr6:36698978-36698979	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs573140821	chr6:36699010-36699011	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs28435301	chr6:36699022-36699023	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575418844	chr6:36699061-36699062	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs141463014	chr6:36699082-36699083	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs150837030	chr6:36699090-36699091	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs189290491	chr6:36699096-36699097	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs374575877	chr6:36699120-36699121	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs535871976	chr6:36699204-36699205	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs115521603	chr6:36699234-36699235	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs139258618	chr6:36699242-36699243	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs9462214	chr6:36699280-36699281	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs180888656	chr6:36699321-36699322	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs35374725	chr6:36699337-36699338	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs236461	chr6:36699347-36699348	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551501952	chr6:36699401-36699402	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36688400-36702200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:36689200-36702400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:36690400-36702600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:36692600-36699000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:36694000-36703000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:36695800-36702600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:36695800-36702800	Weak transcription	Gastric	stomach
8	chr6:36696000-36702600	Weak transcription	NHEK	skin
9	chr6:36696600-36702200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr6:36696800-36699400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:36696800-36700200	Weak transcription	Fetal Brain Male	brain
12	chr6:36696800-36702200	Weak transcription	Lung	lung
13	chr6:36696800-36702200	Weak transcription	Spleen	Spleen
14	chr6:36696800-36702200	Weak transcription	NHLF	lung
15	chr6:36697000-36702200	Weak transcription	Primary B cells from cord blood	blood
16	chr6:36697200-36702400	Weak transcription	Adipose Nuclei	Adipose
17	chr6:36697200-36702400	Weak transcription	NHDF-Ad	bronchial
18	chr6:36697400-36702600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:36697600-36700200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:36697600-36701400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr6:36697600-36701400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr6:36697600-36702600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:36697600-36702600	Weak transcription	HUVEC	blood vessel
24	chr6:36697800-36702400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:36698000-36701400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:36698200-36699000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:36698200-36699200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr6:36698200-36699400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:36698200-36699800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:36698200-36699800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:36698600-36699200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:36698600-36699200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:36698800-36699000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr6:36698800-36699200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:36698800-36699200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:36698800-36699200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr6:36698800-36699400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:36698800-36699600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr6:36698800-36699600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:36698800-36700000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:36699000-36699600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:36699000-36702200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:36699200-36702200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:36699200-36703200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:36699200-36703400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:36699400-36699800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:36699400-36699800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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