Variant report

Variant	esv15530
Chromosome Location	chr6:167613861-167622008
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	chr6:167615262..167616947-chr6:167733556..167735117,2	MCF-7	breast:

Extended variants
information (count: 447 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149181565	chr6:167613863-167613864	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62439202	chr6:167613929-167613930	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140890273	chr6:167613935-167613936	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545552021	chr6:167613952-167613953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576125631	chr6:167613953-167613954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397970122	chr6:167613959-167613960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543478660	chr6:167613978-167613979	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56092230	chr6:167614008-167614009	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs55997203	chr6:167614009-167614010	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182433453	chr6:167614025-167614026	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117677207	chr6:167614033-167614034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541605130	chr6:167614054-167614055	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112588953	chr6:167614063-167614064	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144627906	chr6:167614071-167614072	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576326091	chr6:167614081-167614082	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541979291	chr6:167614085-167614086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74980284	chr6:167614087-167614088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530796957	chr6:167614159-167614160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536469674	chr6:167614167-167614168	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374349618	chr6:167614248-167614249	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571202295	chr6:167614289-167614290	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376498357	chr6:167614298-167614299	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532342758	chr6:167614300-167614301	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185112829	chr6:167614324-167614325	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149431258	chr6:167614384-167614385	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143794699	chr6:167614385-167614386	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189531221	chr6:167614411-167614412	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148143715	chr6:167614412-167614413	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565569900	chr6:167614417-167614418	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558626365	chr6:167614453-167614454	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143507718	chr6:167614481-167614482	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535009388	chr6:167614495-167614496	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141930043	chr6:167614527-167614528	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553503067	chr6:167614530-167614531	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147293240	chr6:167614561-167614562	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542443252	chr6:167614581-167614582	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563417793	chr6:167614592-167614593	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140851167	chr6:167614624-167614625	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184231897	chr6:167614662-167614663	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564145472	chr6:167614681-167614682	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12665391	chr6:167614733-167614734	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs559488394	chr6:167614734-167614735	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188734216	chr6:167614782-167614783	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559636693	chr6:167614811-167614812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541012985	chr6:167614845-167614846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529828505	chr6:167614899-167614900	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9457285	chr6:167614977-167614978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370358197	chr6:167615006-167615007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2180713	chr6:167615010-167615011	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs143098185	chr6:167615030-167615031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167610600-167615400	Weak transcription	Fetal Brain Male	brain
2	chr6:167612800-167615000	Strong transcription	Fetal Intestine Small	intestine
3	chr6:167613000-167616600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr6:167613800-167614400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:167613800-167622200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:167614000-167615400	Enhancers	HepG2	liver
7	chr6:167614200-167614400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:167614400-167614800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:167614400-167623200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:167614800-167616400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:167615000-167616800	Weak transcription	Fetal Intestine Small	intestine
12	chr6:167615400-167616400	Weak transcription	HepG2	liver
13	chr6:167615400-167617400	Enhancers	Fetal Brain Male	brain
14	chr6:167615800-167616200	Enhancers	Fetal Lung	lung
15	chr6:167615800-167628800	Weak transcription	Right Atrium	heart
16	chr6:167616400-167617000	Enhancers	HepG2	liver
17	chr6:167616400-167617400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:167616400-167617600	Enhancers	Rectal Smooth Muscle	rectum
19	chr6:167616600-167617200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:167616600-167617800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:167616600-167618400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:167616800-167617200	Enhancers	Stomach Smooth Muscle	stomach
23	chr6:167616800-167617400	Bivalent Enhancer	K562	blood
24	chr6:167616800-167617600	Enhancers	Fetal Intestine Small	intestine
25	chr6:167617000-167617400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:167617000-167617400	Enhancers	Liver	Liver
27	chr6:167617000-167617400	Enhancers	Fetal Heart	heart
28	chr6:167617000-167617400	Enhancers	Fetal Intestine Large	intestine
29	chr6:167617000-167617400	Enhancers	Lung	lung
30	chr6:167617000-167617400	Active TSS	A549	lung
31	chr6:167617000-167617400	Flanking Active TSS	HepG2	liver
32	chr6:167617000-167617400	Enhancers	NH-A	brain
33	chr6:167617200-167617400	Enhancers	Colon Smooth Muscle	Colon
34	chr6:167617200-167617400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr6:167617400-167618200	Weak transcription	NH-A	brain
36	chr6:167617400-167618600	Weak transcription	Fetal Brain Male	brain
37	chr6:167617400-167619000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:167617400-167620800	Enhancers	HepG2	liver
39	chr6:167617400-167622400	Weak transcription	Fetal Intestine Large	intestine
40	chr6:167617600-167618000	Weak transcription	Fetal Intestine Small	intestine
41	chr6:167617600-167618000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr6:167617600-167618200	Weak transcription	Colon Smooth Muscle	Colon
43	chr6:167618000-167619000	Enhancers	Fetal Intestine Small	intestine
44	chr6:167618000-167619000	Enhancers	Rectal Smooth Muscle	rectum
45	chr6:167618200-167618400	Enhancers	Colon Smooth Muscle	Colon
46	chr6:167618400-167618600	Enhancers	NH-A	brain
47	chr6:167618400-167619000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr6:167618400-167624400	Weak transcription	Colon Smooth Muscle	Colon
49	chr6:167618600-167619200	Enhancers	Fetal Brain Male	brain
50	chr6:167619000-167619200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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