Variant report

Variant	esv3397002
Chromosome Location	chr6:36758123-36758704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36735042..36738016-chr6:36756015..36758776,2	K562	blood:
2	chr6:36758069..36759935-chr6:36761905..36763560,2	K562	blood:
3	chr6:36731113..36733577-chr6:36757707..36759344,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544230371	chr6:36758147-36758148	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34901271	chr6:36758152-36758153	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs7742104	chr6:36758180-36758181	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546460426	chr6:36758189-36758190	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546197612	chr6:36758195-36758196	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34582503	chr6:36758220-36758221	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs187753557	chr6:36758262-36758263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192103063	chr6:36758282-36758283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144543424	chr6:36758313-36758314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375829764	chr6:36758318-36758319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551023946	chr6:36758322-36758323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148546390	chr6:36758341-36758342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370825767	chr6:36758347-36758348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs236409	chr6:36758366-36758367	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557632636	chr6:36758466-36758467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566426875	chr6:36758472-36758473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59805048	chr6:36758554-36758555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555127061	chr6:36758579-36758580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182617201	chr6:36758602-36758603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140734958	chr6:36758615-36758616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs67362112	chr6:36758622-36758623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556189954	chr6:36758623-36758624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144595795	chr6:36758632-36758633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151334833	chr6:36758646-36758647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377350468	chr6:36758653-36758654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187739220	chr6:36758674-36758675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36752600-36768400	Weak transcription	Right Atrium	heart
2	chr6:36756000-36758200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:36756200-36759200	Weak transcription	Brain Germinal Matrix	brain
4	chr6:36756800-36758400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:36757200-36759400	Weak transcription	Brain Angular Gyrus	brain
6	chr6:36757200-36759400	Weak transcription	Brain Anterior Caudate	brain
7	chr6:36757200-36761200	Weak transcription	Fetal Kidney	kidney
8	chr6:36757200-36762400	Weak transcription	Brain Substantia Nigra	brain
9	chr6:36757400-36758200	Bivalent Enhancer	NHDF-Ad	bronchial
10	chr6:36757400-36761400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:36757600-36758800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:36757600-36758800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:36757600-36758800	Weak transcription	Fetal Stomach	stomach
14	chr6:36757600-36759000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:36757600-36760000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:36757600-36760800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:36757600-36761000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:36757600-36761000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:36757600-36761000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:36757600-36761600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:36757600-36761600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:36757600-36761800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:36757800-36758800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:36757800-36759000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:36757800-36759200	Weak transcription	Fetal Brain Male	brain
26	chr6:36757800-36759400	Weak transcription	Fetal Lung	lung
27	chr6:36757800-36759600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr6:36757800-36759600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr6:36757800-36760800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:36757800-36760800	Weak transcription	Ovary	ovary
31	chr6:36757800-36761600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:36758200-36758400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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