Variant report

Variant	esv1005755
Chromosome Location	chr6:57280168-57290950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57285506..57287843-chr6:57289585..57292088,2	MCF-7	breast:
2	chr6:57287892..57290689-chr6:57302857..57304913,2	K562	blood:
3	chr6:57285506..57287843-chr6:57289585..57292088,2	MCF-7	breast:

Extended variants
information (count: 554 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9464479	chr6:57280170-57280171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549399802	chr6:57280175-57280176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9464480	chr6:57280176-57280177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113591754	chr6:57280205-57280206	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9464481	chr6:57280223-57280224	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9370601	chr6:57280258-57280259	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs532327200	chr6:57280285-57280286	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192528642	chr6:57280289-57280290	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565748753	chr6:57280311-57280312	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536494747	chr6:57280312-57280313	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548701420	chr6:57280335-57280336	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138060170	chr6:57280349-57280350	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9382735	chr6:57280360-57280361	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570188689	chr6:57280361-57280362	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537423440	chr6:57280390-57280391	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558694677	chr6:57280391-57280392	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571095957	chr6:57280398-57280399	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535009313	chr6:57280412-57280413	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553490508	chr6:57280434-57280435	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368479975	chr6:57280435-57280436	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542065487	chr6:57280442-57280443	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554229047	chr6:57280462-57280463	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575747391	chr6:57280480-57280481	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9464482	chr6:57280490-57280491	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543379948	chr6:57280503-57280504	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564730676	chr6:57280521-57280522	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62399445	chr6:57280532-57280533	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62399446	chr6:57280572-57280573	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74377934	chr6:57280588-57280589	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532398029	chr6:57280602-57280603	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377198677	chr6:57280606-57280607	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62399447	chr6:57280613-57280614	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540960298	chr6:57280649-57280650	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576343743	chr6:57280655-57280656	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529896159	chr6:57280660-57280661	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368862577	chr6:57280663-57280664	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548436435	chr6:57280689-57280690	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570128037	chr6:57280690-57280691	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531046620	chr6:57280701-57280702	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552495707	chr6:57280707-57280708	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570765938	chr6:57280743-57280744	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76332564	chr6:57280785-57280786	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535058101	chr6:57280791-57280792	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77660593	chr6:57280792-57280793	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75976148	chr6:57280803-57280804	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75830394	chr6:57280817-57280818	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111838817	chr6:57280827-57280828	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568442463	chr6:57280839-57280840	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535619850	chr6:57280858-57280859	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557156358	chr6:57280863-57280864	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57263600-57280800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:57265000-57280600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:57267600-57280200	Weak transcription	GM12878-XiMat	blood
4	chr6:57268400-57288400	Weak transcription	NHLF	lung
5	chr6:57269600-57280400	Weak transcription	Psoas Muscle	Psoas
6	chr6:57273000-57280200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:57273000-57284000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:57273000-57285600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:57273200-57287600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:57273600-57280200	Weak transcription	NHDF-Ad	bronchial
11	chr6:57273600-57280400	Weak transcription	Primary B cells from cord blood	blood
12	chr6:57273600-57280600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:57273600-57284000	Weak transcription	Gastric	stomach
14	chr6:57274600-57284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:57276400-57283800	Weak transcription	Thymus	Thymus
16	chr6:57276400-57284000	Weak transcription	Spleen	Spleen
17	chr6:57276400-57284200	Weak transcription	Pancreas	Pancrea
18	chr6:57277200-57280600	Weak transcription	HSMM	muscle
19	chr6:57277400-57280600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:57278200-57280600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:57278200-57280600	Weak transcription	Osteobl	bone
22	chr6:57278800-57281200	Weak transcription	Aorta	Aorta
23	chr6:57279400-57280200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:57280200-57280600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:57280200-57280800	ZNF genes & repeats	GM12878-XiMat	blood
26	chr6:57280200-57281000	Strong transcription	NHDF-Ad	bronchial
27	chr6:57280200-57281200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr6:57280200-57281600	ZNF genes & repeats	Dnd41	blood
29	chr6:57280400-57280600	Weak transcription	Ovary	ovary
30	chr6:57280400-57281400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:57280400-57281400	ZNF genes & repeats	Psoas Muscle	Psoas
32	chr6:57280400-57281600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr6:57280400-57281600	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr6:57280400-57282800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:57280600-57280800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:57280600-57280800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
37	chr6:57280600-57280800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
38	chr6:57280600-57281000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:57280600-57281000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
40	chr6:57280600-57281200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
41	chr6:57280600-57281200	ZNF genes & repeats	HSMM	muscle
42	chr6:57280600-57281200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
43	chr6:57280600-57281400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
44	chr6:57280600-57281400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:57280600-57281400	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr6:57280600-57281400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:57280600-57281400	ZNF genes & repeats	Liver	Liver
48	chr6:57280600-57281600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:57280600-57281600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr6:57280600-57281600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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