Variant report

Variant	esv3389093
Chromosome Location	chr6:396504-396716
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	chr6:394972..397659-chr6:402039..404280,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143703528	chr6:396539-396540	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs569388884	chr6:396540-396541	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs535148883	chr6:396557-396558	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs554958530	chr6:396569-396570	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs138436278	chr6:396573-396574	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs369309818	chr6:396592-396593	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs540975004	chr6:396596-396597	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs6905821	chr6:396597-396598	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs3866818	chr6:396611-396612	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs113703180	chr6:396639-396640	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs1775588	chr6:396649-396650	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs4959827	chr6:396663-396664	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs574199547	chr6:396664-396665	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs553184396	chr6:396675-396676	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs557302838	chr6:396679-396680	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs3866820	chr6:396691-396692	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs6906144	chr6:396701-396702	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs543106936	chr6:396711-396712	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs1621080	chr6:396715-396716	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:391200-400600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:392000-406400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr6:393400-396600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:393800-396600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
5	chr6:393800-397600	Weak transcription	Esophagus	oesophagus
6	chr6:394200-401400	Weak transcription	Spleen	Spleen
7	chr6:394200-403400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:394400-399000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:394400-405800	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr6:394600-399400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:394600-399800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr6:395000-399000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr6:395000-399600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr6:395000-399800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:395000-411200	Weak transcription	Right Atrium	heart
16	chr6:395400-398600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:395800-397800	Strong transcription	Primary T cells from cord blood	blood
18	chr6:396000-396600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:396000-397800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:396000-399000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:396000-401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:396200-397000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:396200-397800	Strong transcription	Primary B cells from cord blood	blood
24	chr6:396200-397800	Weak transcription	Adipose Nuclei	Adipose
25	chr6:396200-398600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr6:396200-403400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:396400-397400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:396400-401400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:396600-397000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:396600-397000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:396600-397000	Active TSS	GM12878-XiMat	blood
32	chr6:396600-398600	Weak transcription	Lung	lung

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