Variant report

Variant	esv3356147
Chromosome Location	chr6:160875662-160879960
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	chr6:160558114..160558643-chr6:160876721..160877596,2	MCF-7	breast:
2	chr6:160876378..160878345-chr6:160878761..160881634,2	K562	blood:
3	chr6:160876378..160878345-chr6:160878761..160881634,2	K562	blood:
4	chr6:160509117..160510000-chr6:160876739..160877584,3	MCF-7	breast:
5	chr6:160876814..160877519-chr6:161088556..161089198,2	MCF-7	breast:
6	chr6:160876729..160877411-chr6:161088842..161089583,2	K562	blood:
7	chr6:160876699..160877379-chr6:160954968..160955609,2	K562	blood:
8	chr6:160876492..160879466-chr6:160895352..160897823,2	K562	blood:
9	chr6:160054179..160054998-chr6:160876576..160877179,2	K562	blood:
10	chr6:160559166..160560422-chr6:160876706..160877623,9	K562	blood:
11	chr6:160559129..160560035-chr6:160876676..160877443,6	MCF-7	breast:

No data

Extended variants
information (count: 175 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:175 , 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	rs545970334	chr6:160875669-160875670	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562676318	chr6:160875747-160875748	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371620845	chr6:160875757-160875758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529057638	chr6:160875775-160875776	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569988248	chr6:160875815-160875816	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548808240	chr6:160875904-160875905	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149511028	chr6:160875922-160875923	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537364679	chr6:160876047-160876048	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs550333520	chr6:160876050-160876051	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs118147645	chr6:160876051-160876052	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs192298537	chr6:160876085-160876086	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs546875017	chr6:160876203-160876204	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs566337046	chr6:160876215-160876216	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs558483254	chr6:160876217-160876218	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs538664173	chr6:160876218-160876219	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs552283018	chr6:160876229-160876230	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs184751605	chr6:160876245-160876246	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs537955623	chr6:160876250-160876251	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs76274444	chr6:160876269-160876270	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs373613225	chr6:160876283-160876284	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs2504926	chr6:160876290-160876291	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs144140618	chr6:160876308-160876309	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs188025187	chr6:160876316-160876317	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs554198077	chr6:160876332-160876333	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs140654349	chr6:160876343-160876344	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs7744658	chr6:160876356-160876357	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs371904690	chr6:160876361-160876362	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs180995441	chr6:160876376-160876377	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs2504925	chr6:160876394-160876395	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs144186683	chr6:160876403-160876404	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs147778405	chr6:160876409-160876410	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs139475707	chr6:160876445-160876446	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs540143131	chr6:160876638-160876639	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs560426633	chr6:160876669-160876670	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs532329132	chr6:160876685-160876686	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs552170837	chr6:160876715-160876716	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs142543783	chr6:160876754-160876755	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs553666421	chr6:160876789-160876790	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs374412174	chr6:160876868-160876869	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs539041701	chr6:160876897-160876898	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs371140822	chr6:160876898-160876899	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs184665522	chr6:160876899-160876900	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs548352625	chr6:160876900-160876901	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs568552936	chr6:160876974-160876975	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs572639751	chr6:160877081-160877082	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs532076800	chr6:160877104-160877105	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs534437904	chr6:160877118-160877119	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs62440432	chr6:160877141-160877142	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189987661	chr6:160877143-160877144	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs536010419	chr6:160877185-160877186	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Coronary Disease	20032323	CNVD
Coronary Disease	20335594	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160818600-160876800	Weak transcription	Esophagus	oesophagus
2	chr6:160852600-160876800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:160859200-160876000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:160863600-160882800	Weak transcription	Gastric	stomach
5	chr6:160864000-160876000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:160864400-160876600	Weak transcription	Brain Substantia Nigra	brain
7	chr6:160866400-160876000	Weak transcription	Adipose Nuclei	Adipose
8	chr6:160866600-160876200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:160866600-160876600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:160866600-160883800	Weak transcription	Spleen	Spleen
11	chr6:160867000-160877800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:160867200-160876800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:160867400-160876800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:160868800-160876600	Weak transcription	Placenta	Placenta
15	chr6:160870400-160876800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:160871800-160876000	Strong transcription	Liver	Liver
17	chr6:160872800-160876000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:160872800-160876000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:160873000-160876000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:160873400-160876400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:160875200-160875800	Enhancers	HepG2	liver
22	chr6:160875200-160876400	Weak transcription	Aorta	Aorta
23	chr6:160875200-160876400	Enhancers	Ovary	ovary
24	chr6:160875200-160876600	Enhancers	Fetal Muscle Leg	muscle
25	chr6:160875200-160876800	Weak transcription	Fetal Brain Male	brain
26	chr6:160875400-160877200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr6:160875400-160877400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr6:160875600-160875800	Weak transcription	A549	lung
29	chr6:160875600-160876600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:160875600-160876600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:160875600-160876800	Weak transcription	Fetal Intestine Small	intestine
32	chr6:160875800-160876000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:160875800-160876800	Weak transcription	Fetal Intestine Large	intestine
34	chr6:160875800-160876800	Enhancers	A549	lung
35	chr6:160875800-160876800	Weak transcription	HepG2	liver
36	chr6:160876000-160876200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:160876000-160876200	Enhancers	Rectal Smooth Muscle	rectum
38	chr6:160876000-160876600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:160876000-160876600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:160876000-160876600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr6:160876000-160876600	Enhancers	Colon Smooth Muscle	Colon
42	chr6:160876000-160876600	Enhancers	Fetal Muscle Trunk	muscle
43	chr6:160876000-160876800	Enhancers	Adipose Nuclei	Adipose
44	chr6:160876000-160876800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr6:160876000-160877200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:160876000-160877200	Active TSS	NHDF-Ad	bronchial
47	chr6:160876000-160877600	Weak transcription	Liver	Liver
48	chr6:160876200-160876400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:160876200-160876400	Active TSS	Stomach Smooth Muscle	stomach
50	chr6:160876200-160876400	Bivalent Enhancer	HSMMtube	muscle

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