Variant report

Variant	esv2763608
Chromosome Location	chr6:163920117-163943429
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:30)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:163923513..163926538-chr6:163926650..163930288,4	K562	blood:
2	chr6:163932152..163934277-chr6:163941799..163943537,2	K562	blood:
3	chr6:163926892..163930001-chr6:163930926..163934200,4	K562	blood:
4	chr6:163933236..163935376-chr6:163942344..163945131,2	MCF-7	breast:
5	chr6:163919801..163922242-chr6:163941031..163943536,2	K562	blood:
6	chr6:163907164..163909341-chr6:163918489..163921263,2	K562	blood:
7	chr6:163921298..163924177-chr6:163927731..163929828,2	MCF-7	breast:
8	chr6:163927892..163930001-chr6:163930926..163932933,2	K562	blood:
9	chr6:163835622..163837984-chr6:163932902..163934643,2	K562	blood:
10	chr6:163935185..163937541-chr6:163947865..163950666,2	K562	blood:
11	chr6:163923513..163926538-chr6:163926650..163930288,4	K562	blood:
12	chr6:163932152..163934277-chr6:163941799..163943537,2	K562	blood:
13	chr6:163913424..163915892-chr6:163926474..163929271,3	K562	blood:
14	chr6:163935196..163937277-chr6:163938981..163941955,2	K562	blood:
15	chr6:163926892..163930001-chr6:163930926..163934200,4	K562	blood:
16	chr6:163921116..163923007-chr6:163926762..163928930,2	K562	blood:
17	chr6:163846486..163849719-chr6:163934600..163936577,3	K562	blood:
18	chr6:163927892..163930001-chr6:163930926..163932933,2	K562	blood:
19	chr6:163943184..163945151-chr6:163945835..163948340,2	K562	blood:
20	chr6:163936784..163940539-chr6:163940693..163944816,5	K562	blood:
21	chr6:163935041..163936837-chr6:163945446..163947162,2	K562	blood:
22	chr6:163834068..163835581-chr6:163938752..163941095,2	K562	blood:
23	chr6:163931741..163933882-chr6:163991613..163993887,2	K562	blood:
24	chr6:163933236..163935376-chr6:163942344..163945131,2	MCF-7	breast:
25	chr6:163936784..163940539-chr6:163940693..163944816,5	K562	blood:
26	chr6:163921116..163923007-chr6:163926762..163928930,2	K562	blood:
27	chr6:163941356..163943183-chr6:163944716..163947112,2	K562	blood:
28	chr6:163919801..163922242-chr6:163941031..163943536,2	K562	blood:
29	chr6:163935196..163937277-chr6:163938981..163941955,2	K562	blood:
30	chr6:163921298..163924177-chr6:163927731..163929828,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL078585.1-4	chr6:163930139-163932378	ENSG00000251068
2	lnc-AL078585.1-4	chr6:163928265-163929595	ENSG00000251068
3	lnc-PACRG-4	chr6:163928734-163929187	NONHSAT115965
4	lnc-PACRG-4	chr6:163927605-163927750	NONHSAT115965

No data

Variant related genes	Relation type
ENSG00000112531	chromatin interactions
ENSG00000270419	chromatin interactions
C5orf22	miRNA target sites

Extended variants
information (count: 911 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:911 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs721190	chr6:163920117-163920118	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140240268	chr6:163920124-163920125	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567608453	chr6:163920125-163920126	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367859260	chr6:163920128-163920129	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558452202	chr6:163920163-163920164	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575428529	chr6:163920193-163920194	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs60918367	chr6:163920230-163920231	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181958596	chr6:163920248-163920249	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs721191	chr6:163920254-163920255	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs530149939	chr6:163920268-163920269	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73244787	chr6:163920319-163920320	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560261911	chr6:163920338-163920339	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2038148	chr6:163920573-163920574	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs371224640	chr6:163920653-163920654	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370910668	chr6:163920659-163920660	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115244087	chr6:163920692-163920693	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565329180	chr6:163920704-163920705	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531179563	chr6:163920795-163920796	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550944792	chr6:163920810-163920811	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75078708	chr6:163920817-163920818	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186571846	chr6:163920822-163920823	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546610936	chr6:163920866-163920867	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201083584	chr6:163920887-163920888	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553775224	chr6:163920938-163920939	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548750215	chr6:163920948-163920949	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191834539	chr6:163920968-163920969	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183556353	chr6:163920990-163920991	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538055081	chr6:163921017-163921018	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs538972472	chr6:163921024-163921025	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs554533260	chr6:163921056-163921057	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs574806582	chr6:163921098-163921099	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs188206280	chr6:163921129-163921130	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs191252054	chr6:163921176-163921177	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs576956651	chr6:163921203-163921204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs545579824	chr6:163921234-163921235	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs9365572	chr6:163921266-163921267	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs575706820	chr6:163921273-163921274	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs34876347	chr6:163921313-163921314	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs544803099	chr6:163921340-163921341	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs561392603	chr6:163921341-163921342	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs9347752	chr6:163921377-163921378	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs546923267	chr6:163921465-163921466	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560103203	chr6:163921605-163921606	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182700494	chr6:163921634-163921635	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552349276	chr6:163921650-163921651	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569350994	chr6:163921658-163921659	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186660827	chr6:163921682-163921683	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548345151	chr6:163921709-163921710	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs57845473	chr6:163921732-163921733	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534073709	chr6:163921744-163921745	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Renal cell carcinoma	18592004	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
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163898400-163926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:163902600-163921800	Weak transcription	HepG2	liver
3	chr6:163903000-163924200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:163903600-163926000	Weak transcription	Lung	lung
5	chr6:163905800-163921800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:163907200-163925000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:163907200-163926000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:163909200-163921000	Weak transcription	Primary B cells from cord blood	blood
9	chr6:163909400-163923800	Weak transcription	Aorta	Aorta
10	chr6:163909600-163922600	Weak transcription	Fetal Brain Female	brain
11	chr6:163911200-163926000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:163911200-163926200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:163911600-163928000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:163911800-163934800	Weak transcription	Pancreas	Pancrea
15	chr6:163912200-163920800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:163912200-163921600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:163912200-163921600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:163912400-163921000	Weak transcription	Fetal Lung	lung
19	chr6:163912400-163921000	Weak transcription	NHLF	lung
20	chr6:163912400-163926200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:163912600-163925200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:163913000-163928000	Weak transcription	HUVEC	blood vessel
23	chr6:163913800-163922800	Enhancers	Brain Angular Gyrus	brain
24	chr6:163915600-163925400	Weak transcription	A549	lung
25	chr6:163915600-163926000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:163915600-163928000	Weak transcription	Osteobl	bone
27	chr6:163915800-163922600	Weak transcription	K562	blood
28	chr6:163915800-163927400	Weak transcription	HSMM	muscle
29	chr6:163916000-163929200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:163916200-163928200	Enhancers	Brain Substantia Nigra	brain
31	chr6:163917000-163928000	Weak transcription	Liver	Liver
32	chr6:163917600-163925000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:163917800-163922200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr6:163917800-163923000	Weak transcription	Psoas Muscle	Psoas
35	chr6:163917800-163925000	Weak transcription	Right Atrium	heart
36	chr6:163918000-163920600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:163918000-163920600	Weak transcription	Right Ventricle	heart
38	chr6:163918000-163922200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:163918000-163922200	Weak transcription	Colon Smooth Muscle	Colon
40	chr6:163918200-163921000	Weak transcription	Adipose Nuclei	Adipose
41	chr6:163918400-163920400	Weak transcription	Brain Germinal Matrix	brain
42	chr6:163918600-163922600	Enhancers	Brain Hippocampus Middle	brain
43	chr6:163918800-163921000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr6:163919200-163922400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr6:163919200-163922800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr6:163919200-163923200	Enhancers	Fetal Heart	heart
47	chr6:163919400-163922800	Enhancers	Brain Cingulate Gyrus	brain
48	chr6:163919600-163923800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:163919800-163920800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:163919800-163922200	Weak transcription	Left Ventricle	heart

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