Variant report

Variant	esv3400983
Chromosome Location	chr6:164521187-164523735
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	chr6:163837764..163839976-chr6:164521625..164524241,2	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145279041	chr6:164521210-164521211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545198652	chr6:164521211-164521212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528487231	chr6:164521220-164521221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568351554	chr6:164521225-164521226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558612270	chr6:164521228-164521229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147221831	chr6:164521277-164521278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543998468	chr6:164521392-164521393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565357137	chr6:164521468-164521469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142166274	chr6:164521472-164521473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539032653	chr6:164521495-164521496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570150761	chr6:164521544-164521545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559917238	chr6:164521587-164521588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs206743	chr6:164521653-164521654	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs116653793	chr6:164521678-164521679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568969103	chr6:164521686-164521687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531384421	chr6:164521687-164521688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117020449	chr6:164521718-164521719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567812095	chr6:164521766-164521767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140176819	chr6:164521767-164521768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183292082	chr6:164521768-164521769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375822690	chr6:164521769-164521770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149911639	chr6:164521770-164521771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558673926	chr6:164521802-164521803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575338298	chr6:164521821-164521822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544260353	chr6:164521831-164521832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188589004	chr6:164521835-164521836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548461837	chr6:164521844-164521845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540188486	chr6:164521869-164521870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560383295	chr6:164521916-164521917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192955306	chr6:164521937-164521938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540762339	chr6:164521960-164521961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545815745	chr6:164521967-164521968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566968333	chr6:164522010-164522011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183258150	chr6:164522011-164522012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531447608	chr6:164522022-164522023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548277918	chr6:164522049-164522050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377151321	chr6:164522095-164522096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187317024	chr6:164522152-164522153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28536639	chr6:164522184-164522185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28699387	chr6:164522205-164522206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28550590	chr6:164522206-164522207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28429091	chr6:164522217-164522218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28515107	chr6:164522224-164522225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113166340	chr6:164522283-164522284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534294564	chr6:164522299-164522300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191261025	chr6:164522327-164522328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552681785	chr6:164522348-164522349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183784565	chr6:164522361-164522362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374845633	chr6:164522368-164522369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538327155	chr6:164522372-164522373	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
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	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	18451855	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164506400-164530200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:164515000-164522800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:164517800-164522000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:164518800-164523000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:164519000-164528400	Weak transcription	Psoas Muscle	Psoas
6	chr6:164519400-164521200	Enhancers	NH-A	brain
7	chr6:164519800-164521600	Enhancers	Fetal Brain Male	brain
8	chr6:164519800-164521600	Enhancers	Left Ventricle	heart
9	chr6:164519800-164525000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:164520000-164521600	Enhancers	Fetal Muscle Trunk	muscle
11	chr6:164520000-164521800	Enhancers	Fetal Heart	heart
12	chr6:164520200-164521800	Weak transcription	Right Ventricle	heart
13	chr6:164520200-164522400	Weak transcription	Placenta	Placenta
14	chr6:164520200-164522800	Weak transcription	Spleen	Spleen
15	chr6:164520200-164523000	Weak transcription	HSMM	muscle
16	chr6:164520200-164528600	Weak transcription	Esophagus	oesophagus
17	chr6:164520400-164521600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:164520400-164522800	Weak transcription	HUVEC	blood vessel
19	chr6:164520400-164523400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:164520400-164529200	Weak transcription	Adipose Nuclei	Adipose
21	chr6:164520600-164522000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:164520600-164522600	Weak transcription	Lung	lung
23	chr6:164520600-164522800	Weak transcription	Right Atrium	heart
24	chr6:164520800-164522800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:164520800-164522800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:164520800-164523800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:164521000-164521200	Active TSS	Brain Anterior Caudate	brain
28	chr6:164521000-164521200	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr6:164521000-164521600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:164521000-164521600	Enhancers	Brain Cingulate Gyrus	brain
31	chr6:164521000-164521600	Enhancers	Brain Germinal Matrix	brain
32	chr6:164521000-164521600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr6:164521000-164521800	Enhancers	Brain Hippocampus Middle	brain
34	chr6:164521000-164522400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:164521000-164522800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:164521000-164523000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:164521000-164523000	Weak transcription	Brain Angular Gyrus	brain
38	chr6:164521000-164523800	Weak transcription	Fetal Brain Female	brain
39	chr6:164521000-164524800	Weak transcription	Fetal Muscle Leg	muscle
40	chr6:164521200-164521800	Enhancers	Brain Substantia Nigra	brain
41	chr6:164521200-164522800	Weak transcription	Brain Anterior Caudate	brain
42	chr6:164521600-164522600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr6:164521600-164522600	Weak transcription	Left Ventricle	heart
44	chr6:164521600-164522800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:164521600-164522800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:164521600-164522800	Weak transcription	Brain Germinal Matrix	brain
47	chr6:164521600-164522800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr6:164521600-164523400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:164521600-164523400	Weak transcription	Fetal Brain Male	brain
50	chr6:164521800-164522800	Weak transcription	Brain Hippocampus Middle	brain

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