Variant report

Variant	esv3498416
Chromosome Location	chr6:55831124-55909074
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:55904181..55905774-chr6:55908809..55911144,2	MCF-7	breast:
2	chr6:55904181..55905774-chr6:55908809..55911144,2	MCF-7	breast:
3	chr6:55845445..55846395-chr6:55861990..55862829,3	MCF-7	breast:
4	chr6:55824417..55826728-chr6:55848243..55849781,2	K562	blood:
5	chr6:55845445..55846395-chr6:55861990..55862829,3	MCF-7	breast:
6	chr6:55886589..55887225-chr6:56157105..56157760,2	MCF-7	breast:
7	chr6:55845353..55845898-chr6:56157360..56158001,3	MCF-7	breast:
8	chr6:55886603..55887384-chr6:55918244..55919071,2	MCF-7	breast:
9	chr6:55886745..55887604-chr6:56157130..56158002,2	MCF-7	breast:
10	chr6:55845084..55846120-chr6:56156878..56158381,9	MCF-7	breast:
11	chr6:55865744..55868626-chr6:55870571..55872911,2	K562	blood:
12	chr6:55865744..55868626-chr6:55870571..55872911,2	K562	blood:
13	chr6:55886493..55887163-chr6:56155410..56156320,2	MCF-7	breast:

No data

Extended variants
information (count: 1873 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1873 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548957248	chr6:55831143-55831144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188959012	chr6:55831173-55831174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552412468	chr6:55831176-55831177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35456321	chr6:55831179-55831180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35923695	chr6:55831181-55831182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569215467	chr6:55831203-55831204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537696971	chr6:55831298-55831299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537887860	chr6:55831322-55831323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192488624	chr6:55831365-55831366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371619781	chr6:55831392-55831393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142753486	chr6:55831393-55831394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3065862	chr6:55831421-55831422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs70986756	chr6:55831433-55831434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386359016	chr6:55831434-55831435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560702681	chr6:55831448-55831449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12175528	chr6:55831449-55831450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369202793	chr6:55831456-55831457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11967784	chr6:55831481-55831482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534086025	chr6:55831490-55831491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553971094	chr6:55831505-55831506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570679905	chr6:55831522-55831523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2250848	chr6:55831523-55831524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs148532490	chr6:55831545-55831546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540009352	chr6:55831556-55831557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142843559	chr6:55831559-55831560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150608649	chr6:55831561-55831562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555344722	chr6:55831621-55831622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574750391	chr6:55831648-55831649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540540521	chr6:55831652-55831653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140019742	chr6:55831661-55831662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532597696	chr6:55831676-55831677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546263263	chr6:55831698-55831699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562883424	chr6:55831716-55831717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62405041	chr6:55831748-55831749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368915452	chr6:55831766-55831767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548245985	chr6:55831774-55831775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568476334	chr6:55831813-55831814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111252459	chr6:55831822-55831823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547739692	chr6:55831878-55831879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147948696	chr6:55831913-55831914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs16887440	chr6:55831954-55831955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs547613270	chr6:55831996-55831997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2843542	chr6:55832002-55832003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs569601661	chr6:55832028-55832029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535545537	chr6:55832049-55832050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2745746	chr6:55832057-55832058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571731256	chr6:55832078-55832079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540503557	chr6:55832086-55832087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554079876	chr6:55832113-55832114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561706360	chr6:55832122-55832123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:250 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55828400-55833800	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:55828600-55833400	Weak transcription	Fetal Stomach	stomach
3	chr6:55829200-55833800	Weak transcription	Fetal Lung	lung
4	chr6:55833400-55834200	Enhancers	Fetal Stomach	stomach
5	chr6:55833800-55834000	Enhancers	Colon Smooth Muscle	Colon
6	chr6:55833800-55834800	Enhancers	Fetal Lung	lung
7	chr6:55834000-55834800	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:55834800-55835000	Enhancers	Colon Smooth Muscle	Colon
9	chr6:55835200-55835400	Enhancers	Fetal Heart	heart
10	chr6:55835400-55837000	Weak transcription	Fetal Heart	heart
11	chr6:55837000-55837600	Enhancers	Fetal Heart	heart
12	chr6:55837800-55838600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:55839400-55840000	Enhancers	HUVEC	blood vessel
14	chr6:55840800-55841000	Bivalent Enhancer	Lung	lung
15	chr6:55842400-55844000	Enhancers	Fetal Lung	lung
16	chr6:55843800-55844200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:55844200-55844600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:55844600-55844800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:55844600-55845000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr6:55844800-55847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:55845400-55846200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:55845800-55846400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:55845800-55846400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:55846000-55846200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:55846000-55846200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:55846000-55846400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:55846200-55846400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:55846200-55847400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:55846400-55846800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:55846400-55847600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:55846400-55847800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:55846800-55847200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:55847200-55848400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:55847400-55848000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:55847600-55848000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr6:55847800-55848200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:55858000-55858600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:55859400-55859800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr6:55859800-55862000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:55862000-55862600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr6:55862000-55862800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:55862400-55862600	Enhancers	Fetal Lung	lung
43	chr6:55862400-55862800	Enhancers	Fetal Stomach	stomach
44	chr6:55862800-55863800	Weak transcription	Fetal Stomach	stomach
45	chr6:55862800-55864000	Weak transcription	Fetal Lung	lung
46	chr6:55862800-55866800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:55863600-55864000	Enhancers	NHDF-Ad	bronchial
48	chr6:55863800-55864800	Enhancers	Fetal Stomach	stomach
49	chr6:55864000-55864400	Enhancers	Fetal Lung	lung
50	chr6:55864000-55866600	Weak transcription	NHDF-Ad	bronchial

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