Variant report

Variant	esv3384855
Chromosome Location	chr6:36951670-36952151
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36952074..36956895-chr6:36967839..36978010,11	MCF-7	breast:
2	chr6:36949230..36952224-chr6:37136925..37139369,2	K562	blood:
3	chr6:36930754..36936310-chr6:36950773..36956274,7	MCF-7	breast:
4	chr6:36950922..36953739-chr6:37176914..37178749,2	MCF-7	breast:
5	chr6:36646638..36649501-chr6:36950264..36953112,2	MCF-7	breast:
6	chr6:36561584..36563964-chr6:36951421..36953213,2	MCF-7	breast:
7	chr6:36853647..36856578-chr6:36948651..36952350,3	K562	blood:
8	chr6:36838369..36843263-chr6:36951921..36955568,5	MCF-7	breast:
9	chr6:36951113..36952947-chr6:36995288..36997269,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146192	chromatin interactions
ENSG00000137168	chromatin interactions
ENSG00000198663	chromatin interactions
ENSG00000137193	chromatin interactions
ENSG00000112081	chromatin interactions
ENSG00000164530	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528990245	chr6:36951675-36951676	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs79531340	chr6:36951707-36951708	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs568759606	chr6:36951805-36951806	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs147685496	chr6:36951830-36951831	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs76821154	chr6:36951832-36951833	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs189468192	chr6:36951836-36951837	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs542143449	chr6:36951854-36951855	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs3822973	chr6:36951865-36951866	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529688827	chr6:36951909-36951910	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs73733425	chr6:36951953-36951954	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs112588184	chr6:36951982-36951983	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs71722718	chr6:36951983-36951984	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs11280615	chr6:36951985-36951986	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs199794135	chr6:36951986-36951987	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs79421282	chr6:36951992-36951993	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs369773491	chr6:36952083-36952084	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs146972520	chr6:36952087-36952088	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs113102907	chr6:36952102-36952103	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs565718820	chr6:36952112-36952113	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs147615168	chr6:36952135-36952136	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36932400-36951800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:36946200-36952000	Weak transcription	A549	lung
3	chr6:36946400-36951800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:36946800-36951800	Enhancers	Brain Angular Gyrus	brain
5	chr6:36946800-36951800	Genic enhancers	Brain Anterior Caudate	brain
6	chr6:36947200-36952000	Enhancers	Colon Smooth Muscle	Colon
7	chr6:36947600-36951800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr6:36949200-36951800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:36949200-36951800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:36949200-36952400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:36949400-36951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:36949400-36951800	Enhancers	Brain Cingulate Gyrus	brain
13	chr6:36949400-36951800	Weak transcription	Placenta	Placenta
14	chr6:36949400-36952400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:36949600-36952200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr6:36949800-36951800	Enhancers	Primary T cells from cord blood	blood
17	chr6:36949800-36952400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:36950000-36951800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:36950000-36951800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:36950200-36952200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr6:36950200-36952200	Enhancers	Right Atrium	heart
22	chr6:36950200-36952400	Enhancers	Pancreas	Pancrea
23	chr6:36950400-36951800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr6:36950400-36951800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:36950400-36951800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr6:36950400-36952000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:36950400-36952200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr6:36950400-36952600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr6:36950400-36952600	Enhancers	Stomach Mucosa	stomach
30	chr6:36950600-36951800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:36950600-36951800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:36950600-36951800	Genic enhancers	Primary B cells from peripheral blood	blood
33	chr6:36950600-36951800	Enhancers	Brain Hippocampus Middle	brain
34	chr6:36950600-36951800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr6:36950600-36951800	Enhancers	Osteobl	bone
36	chr6:36950600-36952000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr6:36950600-36952000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:36950600-36952000	Enhancers	Adipose Nuclei	Adipose
39	chr6:36950600-36952000	Enhancers	Brain Substantia Nigra	brain
40	chr6:36950600-36952200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr6:36950600-36952400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:36950600-36952400	Enhancers	Liver	Liver
43	chr6:36950600-36952600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:36950800-36951800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:36950800-36951800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:36950800-36951800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr6:36950800-36951800	Enhancers	Primary B cells from cord blood	blood
48	chr6:36950800-36951800	Weak transcription	Esophagus	oesophagus
49	chr6:36950800-36951800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr6:36950800-36951800	Weak transcription	Lung	lung

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