Variant report

Variant	esv3371810
Chromosome Location	chr6:5472602-5472887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5470498..5472871-chr6:6545581..6547972,2	MCF-7	breast:
2	chr6:5471400..5474244-chr6:6052015..6054966,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542155503	chr6:5472615-5472616	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560967407	chr6:5472622-5472623	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531188750	chr6:5472631-5472632	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs574054031	chr6:5472632-5472633	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs760612	chr6:5472657-5472658	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532176812	chr6:5472679-5472680	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs143294369	chr6:5472695-5472696	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs565537485	chr6:5472733-5472734	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs6908887	chr6:5472770-5472771	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554555375	chr6:5472808-5472809	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs563195191	chr6:5472856-5472857	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537023542	chr6:5472857-5472858	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs184461013	chr6:5472871-5472872	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs187344139	chr6:5472879-5472880	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5434200-5487000	Weak transcription	Aorta	Aorta
2	chr6:5449000-5499400	Weak transcription	Fetal Intestine Large	intestine
3	chr6:5456400-5486000	Weak transcription	Thymus	Thymus
4	chr6:5457400-5481200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:5457800-5487400	Weak transcription	Fetal Intestine Small	intestine
6	chr6:5458800-5483000	Weak transcription	Pancreas	Pancrea
7	chr6:5459000-5486400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:5461600-5507200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:5466400-5518200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:5466600-5506400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:5466800-5502200	Weak transcription	Gastric	stomach
12	chr6:5467200-5477000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:5467200-5477600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:5467200-5487400	Weak transcription	Lung	lung
15	chr6:5468400-5487800	Weak transcription	Primary B cells from cord blood	blood
16	chr6:5469800-5481200	Weak transcription	Esophagus	oesophagus
17	chr6:5471000-5473600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:5471200-5472800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr6:5471200-5473200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:5471200-5474400	Weak transcription	K562	blood
21	chr6:5471400-5473000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:5471400-5473200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:5471400-5473200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:5471400-5473200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:5471400-5473200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr6:5471400-5474400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:5471400-5481000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:5471600-5473600	Enhancers	Fetal Brain Male	brain
29	chr6:5471600-5487400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:5471800-5472800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr6:5471800-5473400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr6:5471800-5489400	Weak transcription	Small Intestine	intestine
33	chr6:5471800-5505800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr6:5472000-5473400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr6:5472200-5472800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr6:5472200-5472800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:5472200-5472800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr6:5472200-5473000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr6:5472200-5481200	Weak transcription	Primary T cells from cord blood	blood
40	chr6:5472200-5481200	Weak transcription	Left Ventricle	heart
41	chr6:5472200-5487400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr6:5472400-5472800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:5472400-5472800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr6:5472400-5473400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:5472400-5474000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr6:5472400-5511600	Weak transcription	Fetal Stomach	stomach
47	chr6:5472600-5473200	Enhancers	Brain Anterior Caudate	brain
48	chr6:5472600-5473200	Enhancers	Brain Hippocampus Middle	brain
49	chr6:5472600-5473200	Enhancers	Fetal Brain Female	brain
50	chr6:5472600-5473400	Enhancers	Brain Germinal Matrix	brain

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