Variant report

Variant	esv1930914
Chromosome Location	chr6:57284788-57289549
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	chr6:57285506..57287843-chr6:57289585..57292088,2	MCF-7	breast:
2	chr6:57287892..57290689-chr6:57302857..57304913,2	K562	blood:

Extended variants
information (count: 159 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs33966571	chr6:57284789-57284790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62401677	chr6:57284847-57284848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62401678	chr6:57284861-57284862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564996927	chr6:57284867-57284868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200451594	chr6:57284889-57284890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62401679	chr6:57284926-57284927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147819453	chr6:57285039-57285040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553321216	chr6:57285074-57285075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572834500	chr6:57285082-57285083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560604646	chr6:57285114-57285115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368755673	chr6:57285115-57285116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541178121	chr6:57285116-57285117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141346029	chr6:57285117-57285118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150368039	chr6:57285131-57285132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547792568	chr6:57285175-57285176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548392626	chr6:57285186-57285187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181872840	chr6:57285203-57285204	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs530798672	chr6:57285232-57285233	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs552559444	chr6:57285242-57285243	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs571029916	chr6:57285276-57285277	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs200266322	chr6:57285300-57285301	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs186996718	chr6:57285385-57285386	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs370018468	chr6:57285424-57285425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568305704	chr6:57285444-57285445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535680690	chr6:57285472-57285473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116598244	chr6:57285514-57285515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576102807	chr6:57285525-57285526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536612981	chr6:57285538-57285539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550752989	chr6:57285548-57285549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558524693	chr6:57285563-57285564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577165920	chr6:57285652-57285653	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs570990788	chr6:57285747-57285748	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs191383373	chr6:57285783-57285784	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs559734468	chr6:57285792-57285793	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs574665142	chr6:57285847-57285848	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138089539	chr6:57285881-57285882	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181942330	chr6:57285930-57285931	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149446684	chr6:57286030-57286031	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552242789	chr6:57286038-57286039	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564149586	chr6:57286065-57286066	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528506916	chr6:57286091-57286092	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546867980	chr6:57286095-57286096	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568448587	chr6:57286097-57286098	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186206940	chr6:57286169-57286170	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541117066	chr6:57286185-57286186	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35815160	chr6:57286188-57286189	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569601536	chr6:57286273-57286274	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs79354699	chr6:57286343-57286344	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs558407796	chr6:57286385-57286386	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs570456690	chr6:57286395-57286396	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57268400-57288400	Weak transcription	NHLF	lung
2	chr6:57273000-57285600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:57273200-57287600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:57281200-57287600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:57281400-57285400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:57281400-57286000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:57281400-57286400	Weak transcription	Aorta	Aorta
8	chr6:57281400-57287600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:57281600-57285400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:57281600-57285400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:57281600-57297000	Weak transcription	Primary B cells from cord blood	blood
12	chr6:57281600-57297600	Weak transcription	Dnd41	blood
13	chr6:57282200-57285400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:57282800-57285400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:57283000-57295800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:57283400-57296400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr6:57284000-57284800	Enhancers	HMEC	breast
18	chr6:57284200-57285800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:57284400-57285400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:57284400-57285800	Weak transcription	NHDF-Ad	bronchial
21	chr6:57284400-57286200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:57284400-57286400	Weak transcription	Hela-S3	cervix
23	chr6:57284400-57287000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:57284400-57288200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:57284400-57288200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:57284400-57288400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:57284400-57303600	Weak transcription	Pancreas	Pancrea
28	chr6:57284600-57284800	Enhancers	NHEK	skin
29	chr6:57284600-57286600	Enhancers	Primary B cells from peripheral blood	blood
30	chr6:57284600-57295800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr6:57284600-57296200	Weak transcription	HSMM	muscle
32	chr6:57285200-57285400	ZNF genes & repeats	GM12878-XiMat	blood
33	chr6:57285400-57285600	Enhancers	GM12878-XiMat	blood
34	chr6:57285400-57286200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:57285400-57286600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:57285400-57286600	Enhancers	Osteobl	bone
37	chr6:57285400-57287000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:57285400-57287000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:57285400-57288000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:57285400-57288200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr6:57285400-57288400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:57285400-57288600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr6:57285600-57285800	ZNF genes & repeats	GM12878-XiMat	blood
44	chr6:57285600-57289600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr6:57285800-57286200	Enhancers	GM12878-XiMat	blood
46	chr6:57285800-57286200	Genic enhancers	NHDF-Ad	bronchial
47	chr6:57285800-57286600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr6:57285800-57288200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:57286000-57286600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:57286000-57286800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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