Variant report

Variant	esv33283
Chromosome Location	chr6:160557317-160560903
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:160559129..160560035-chr6:160876676..160877443,6	MCF-7	breast:
2	chr6:160558114..160558643-chr6:160876721..160877596,2	MCF-7	breast:
3	chr6:160559095..160559619-chr6:160789372..160789918,2	K562	blood:
4	chr6:160534035..160535592-chr6:160560350..160562309,2	K562	blood:
5	chr6:160552829..160554455-chr6:160557488..160559667,2	K562	blood:
6	chr6:160559138..160559777-chr6:160954950..160955755,2	K562	blood:
7	chr6:160519823..160522664-chr6:160558781..160560789,2	K562	blood:
8	chr6:160284069..160284978-chr6:160559385..160560056,2	K562	blood:
9	chr6:160559270..160559911-chr6:160718121..160718859,2	MCF-7	breast:
10	chr6:160559166..160560422-chr6:160876706..160877623,9	K562	blood:
11	chr6:160558415..160560977-chr6:160562640..160565543,2	K562	blood:

No data

Extended variants
information (count: 194 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140336304	chr6:160557317-160557318	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374121837	chr6:160557319-160557320	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181861830	chr6:160557320-160557321	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145409447	chr6:160557327-160557328	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377417073	chr6:160557360-160557361	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148035306	chr6:160557367-160557368	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565890866	chr6:160557382-160557383	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369612997	chr6:160557384-160557385	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34990289	chr6:160557408-160557409	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545627984	chr6:160557413-160557414	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565470052	chr6:160557428-160557429	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34863641	chr6:160557429-160557430	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34039604	chr6:160557459-160557460	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34472173	chr6:160557487-160557488	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563333016	chr6:160557507-160557508	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368734088	chr6:160557515-160557516	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201260410	chr6:160557538-160557539	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111357136	chr6:160557542-160557543	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376947890	chr6:160557543-160557544	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370055756	chr6:160557559-160557560	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7762846	chr6:160557569-160557570	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs199874127	chr6:160557577-160557578	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs202093700	chr6:160557579-160557580	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376399703	chr6:160557588-160557589	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371130206	chr6:160557602-160557603	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374278614	chr6:160557603-160557604	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537180059	chr6:160557632-160557633	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368183142	chr6:160557637-160557638	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372021398	chr6:160557640-160557641	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2282143	chr6:160557643-160557644	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs34205214	chr6:160557646-160557647	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs553292466	chr6:160557661-160557662	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573621414	chr6:160557665-160557666	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545713649	chr6:160557690-160557691	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201129404	chr6:160557692-160557693	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575894706	chr6:160557695-160557696	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374593878	chr6:160557702-160557703	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35235578	chr6:160557704-160557705	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs111765280	chr6:160557724-160557725	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34754920	chr6:160557728-160557729	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138382731	chr6:160557757-160557758	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542296714	chr6:160557859-160557860	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187377580	chr6:160557869-160557870	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528395785	chr6:160557932-160557933	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551244051	chr6:160557938-160557939	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150346918	chr6:160557974-160557975	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571173762	chr6:160557982-160557983	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184427785	chr6:160558005-160558006	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs141954520	chr6:160558013-160558014	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs567662687	chr6:160558037-160558038	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Follicular lymphoma	20505157	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160529400-160559200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr6:160538800-160557600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:160539400-160558000	Weak transcription	Gastric	stomach
4	chr6:160539400-160559400	Weak transcription	Brain Angular Gyrus	brain
5	chr6:160539400-160559400	Weak transcription	HSMMtube	muscle
6	chr6:160539400-160559600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:160539400-160580400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:160539600-160574600	Weak transcription	Adipose Nuclei	Adipose
9	chr6:160540200-160576200	Weak transcription	Right Ventricle	heart
10	chr6:160540400-160568800	Weak transcription	Esophagus	oesophagus
11	chr6:160543200-160561400	Weak transcription	Right Atrium	heart
12	chr6:160543400-160558600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:160545000-160559000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:160546000-160559200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:160546400-160560200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:160548200-160560000	Weak transcription	Aorta	Aorta
17	chr6:160549600-160559600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:160549800-160558400	Genic enhancers	Liver	Liver
19	chr6:160551600-160558200	Weak transcription	Stomach Mucosa	stomach
20	chr6:160554000-160558600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:160554200-160557600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:160554200-160559400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:160554200-160559400	Weak transcription	Osteobl	bone
24	chr6:160554200-160559600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:160554400-160559200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:160554400-160559400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:160554600-160558800	Weak transcription	Ovary	ovary
28	chr6:160554800-160582800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:160555000-160558400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:160555200-160558000	Enhancers	Fetal Intestine Small	intestine
31	chr6:160555400-160558000	Weak transcription	Spleen	Spleen
32	chr6:160555400-160560200	Enhancers	Fetal Intestine Large	intestine
33	chr6:160555600-160558000	Enhancers	HepG2	liver
34	chr6:160556200-160558400	Weak transcription	A549	lung
35	chr6:160556200-160559400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:160556800-160557400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:160557000-160558200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:160557000-160558600	Strong transcription	Fetal Muscle Leg	muscle
39	chr6:160557000-160559200	Enhancers	Pancreas	Pancrea
40	chr6:160557200-160558200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr6:160557200-160558800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:160557400-160557600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:160557600-160558400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:160557600-160558400	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr6:160557600-160558600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:160558000-160558400	Genic enhancers	Fetal Intestine Small	intestine
47	chr6:160558000-160558600	Strong transcription	Spleen	Spleen
48	chr6:160558000-160559200	Enhancers	Gastric	stomach
49	chr6:160558000-160559400	Flanking Active TSS	HepG2	liver
50	chr6:160558000-160559600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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