Variant report

Variant	esv3404499
Chromosome Location	chr6:69270381-69271529
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	chr6:69266569..69269694-chr6:69271036..69273043,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568021214	chr6:69270416-69270417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375643677	chr6:69270477-69270478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9294803	chr6:69270490-69270491	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs111944161	chr6:69270519-69270520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557161994	chr6:69270542-69270543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2342472	chr6:69270552-69270553	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371107625	chr6:69270587-69270588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375168547	chr6:69270658-69270659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149808374	chr6:69270672-69270673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188267295	chr6:69270678-69270679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368106125	chr6:69270701-69270702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558129049	chr6:69270706-69270707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371700470	chr6:69270716-69270717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4392689	chr6:69270727-69270728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374338131	chr6:69270740-69270741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572434614	chr6:69270741-69270742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs386407463	chr6:69270745-69270746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs57635606	chr6:69270749-69270750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111808921	chr6:69270756-69270757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28568997	chr6:69270761-69270762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112648837	chr6:69270767-69270768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs59597928	chr6:69270778-69270779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116887738	chr6:69270814-69270815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111769596	chr6:69270852-69270853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529363779	chr6:69270888-69270889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs67713608	chr6:69270889-69270890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576839802	chr6:69270890-69270891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150823141	chr6:69270899-69270900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61542213	chr6:69270909-69270910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545851202	chr6:69270927-69270928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559033822	chr6:69270945-69270946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528034148	chr6:69270962-69270963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547830862	chr6:69270992-69270993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376827535	chr6:69270999-69271000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13209126	chr6:69271002-69271003	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs370350391	chr6:69271108-69271109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117181720	chr6:69271125-69271126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116389554	chr6:69271156-69271157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570599778	chr6:69271168-69271169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539270260	chr6:69271207-69271208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192671135	chr6:69271372-69271373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372887750	chr6:69271399-69271400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566181181	chr6:69271458-69271459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535013005	chr6:69271465-69271466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555040463	chr6:69271472-69271473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575458318	chr6:69271500-69271501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575014353	chr6:69271518-69271519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Ependymoma	16718352	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
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69268800-69270400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:69268800-69270400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr6:69268800-69270400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:69268800-69271200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:69269200-69270400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr6:69269800-69270400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:69269800-69270400	Enhancers	Brain Germinal Matrix	brain
8	chr6:69269800-69270600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:69269800-69272400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:69270000-69270400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:69270200-69270400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:69270400-69270600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:69270400-69271000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:69270400-69271600	Weak transcription	Brain Germinal Matrix	brain
15	chr6:69270400-69272000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:69270600-69271600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:69271000-69271200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:69271200-69272000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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