Variant report

Variant	esv3410947
Chromosome Location	chr6:161466712-161469310
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	chr6:161462428..161466451-chr6:161468081..161472167,5	K562	blood:
2	chr6:161468713..161471223-chr6:161633805..161635902,2	K562	blood:
3	chr6:161426027..161428783-chr6:161467805..161470690,2	K562	blood:
4	chr6:161467426..161469050-chr6:161481416..161482925,2	K562	blood:
5	chr6:161409929..161412719-chr6:161465318..161467396,2	K562	blood:
6	chr6:161457923..161460607-chr6:161464113..161468101,4	K562	blood:
7	chr6:161467892..161471897-chr6:161472211..161475123,4	K562	blood:
8	chr6:161465594..161467851-chr6:161477880..161480640,4	K562	blood:
9	chr6:161462648..161465458-chr6:161468679..161470862,2	K562	blood:
10	chr6:161466990..161469304-chr6:161469601..161471950,4	K562	blood:
11	chr6:161466990..161468844-chr6:161469862..161471950,2	K562	blood:

No data

Extended variants
information (count: 97 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191039981	chr6:161466731-161466732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77648000	chr6:161466743-161466744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552800559	chr6:161466756-161466757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183843233	chr6:161466835-161466836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187967505	chr6:161466852-161466853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192254446	chr6:161466882-161466883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113294343	chr6:161466895-161466896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183323612	chr6:161467000-161467001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187060763	chr6:161467001-161467002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192161896	chr6:161467007-161467008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62435485	chr6:161467015-161467016	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs6919510	chr6:161467063-161467064	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560379094	chr6:161467067-161467068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531039803	chr6:161467077-161467078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550795706	chr6:161467080-161467081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546202723	chr6:161467128-161467129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184697889	chr6:161467138-161467139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149942263	chr6:161467180-161467181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367841334	chr6:161467182-161467183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189061640	chr6:161467363-161467364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567411888	chr6:161467370-161467371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370947374	chr6:161467460-161467461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113443545	chr6:161467512-161467513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145006668	chr6:161467514-161467515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12661478	chr6:161467546-161467547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12196170	chr6:161467553-161467554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200657496	chr6:161467558-161467559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11377998	chr6:161467565-161467566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397760420	chr6:161467566-161467567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193281379	chr6:161467590-161467591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558103242	chr6:161467657-161467658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149100158	chr6:161467704-161467705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142233786	chr6:161467743-161467744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538109756	chr6:161467819-161467820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140253018	chr6:161467894-161467895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575124095	chr6:161468001-161468002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3050257	chr6:161468150-161468151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574691170	chr6:161468166-161468167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201447650	chr6:161468172-161468173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540459594	chr6:161468182-161468183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28601680	chr6:161468203-161468204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185506245	chr6:161468248-161468249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554378792	chr6:161468272-161468273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117170624	chr6:161468302-161468303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs5881389	chr6:161468311-161468312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397723850	chr6:161468321-161468322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397786468	chr6:161468322-161468323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189527980	chr6:161468338-161468339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115710930	chr6:161468423-161468424	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114249845	chr6:161468510-161468511	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
low-grade B-cell lymphoma tumor	18367492	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161414400-161469600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:161416600-161475200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:161435000-161490400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:161443800-161478600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:161448800-161472400	Weak transcription	A549	lung
6	chr6:161449000-161494400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:161452800-161489400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:161453600-161470400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:161453600-161506600	Weak transcription	Small Intestine	intestine
10	chr6:161455200-161467200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:161455200-161495800	Weak transcription	Fetal Brain Male	brain
12	chr6:161456400-161501600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:161456600-161469800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:161456800-161477000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:161456800-161485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:161458200-161471800	Weak transcription	Colonic Mucosa	Colon
17	chr6:161459400-161472000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:161459400-161488800	Weak transcription	Brain Angular Gyrus	brain
19	chr6:161459400-161508800	Weak transcription	Hela-S3	cervix
20	chr6:161459800-161470400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:161459800-161496600	Weak transcription	Fetal Kidney	kidney
22	chr6:161459800-161502800	Weak transcription	HUVEC	blood vessel
23	chr6:161460000-161469800	Weak transcription	Fetal Lung	lung
24	chr6:161460000-161499200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr6:161460200-161470000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:161460200-161470200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:161460200-161471400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:161460200-161473000	Weak transcription	Right Ventricle	heart
29	chr6:161460400-161468800	Weak transcription	NHDF-Ad	bronchial
30	chr6:161460400-161469600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:161460400-161487200	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:161460400-161488800	Weak transcription	Fetal Heart	heart
33	chr6:161460600-161495600	Weak transcription	HSMMtube	muscle
34	chr6:161461800-161470200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:161462000-161469800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:161462000-161478400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr6:161462600-161469800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr6:161462600-161469800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:161462600-161470000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr6:161462600-161470800	Weak transcription	Brain Hippocampus Middle	brain
41	chr6:161462600-161472200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr6:161462600-161472400	Weak transcription	Spleen	Spleen
43	chr6:161462800-161469600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:161462800-161469800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:161462800-161469800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:161462800-161469800	Weak transcription	Gastric	stomach
47	chr6:161462800-161469800	Weak transcription	Thymus	Thymus
48	chr6:161462800-161470800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:161462800-161473000	Weak transcription	Brain Germinal Matrix	brain
50	chr6:161462800-161474200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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