Variant report

Variant	nsv1034225
Chromosome Location	chr6:58718659-58774716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:58772143..58775007-chr6:58776713..58778919,5	K562	blood:
2	chr6:58773141..58775009-chr6:58776566..58778429,2	MCF-7	breast:
3	chr6:58772384..58775379-chr6:58777406..58779060,3	K562	blood:
4	chr12:38032912..38033432-chr6:58774035..58775015,2	MCF-7	breast:
5	chr20:56089136..56089874-chr6:58774030..58774536,2	MCF-7	breast:
6	chr19:27738271..27739820-chr6:58772163..58774918,2	MCF-7	breast:
7	chr20:36661511..36663112-chr6:58773928..58776889,2	K562	blood:

Variant related genes	Relation type
ENSG00000101407	chromatin interactions
ENSG00000101413	chromatin interactions

Extended variants
information (count: 1497 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1497 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549500270	chr6:58748808-58748809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs201840303	chr6:58748836-58748837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs111538414	chr6:58748838-58748839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs564939572	chr6:58748848-58748849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs532681224	chr6:58748866-58748867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs111234928	chr6:58748873-58748874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs199618361	chr6:58748874-58748875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs548087653	chr6:58748885-58748886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs188290468	chr6:58748890-58748891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs567780364	chr6:58748900-58748901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs72872179	chr6:58748901-58748902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs570154450	chr6:58748909-58748910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs187237246	chr6:58748952-58748953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs547279943	chr6:58748964-58748965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs537600030	chr6:58748996-58748997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs558658533	chr6:58749022-58749023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs535623279	chr6:58749050-58749051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs113370737	chr6:58749067-58749068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs192438512	chr6:58749085-58749086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538521739	chr6:58749100-58749101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs112747470	chr6:58749168-58749169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs535674458	chr6:58749202-58749203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs571861272	chr6:58749219-58749220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs542420373	chr6:58749220-58749221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs549132141	chr6:58749228-58749229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs368565470	chr6:58749235-58749236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs138499487	chr6:58749256-58749257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs543540868	chr6:58749258-58749259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs564693765	chr6:58749263-58749264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs532158778	chr6:58749272-58749273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs183336322	chr6:58749274-58749275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs537928012	chr6:58749279-58749280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs560099305	chr6:58749302-58749303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs530458348	chr6:58749324-58749325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs548799097	chr6:58749336-58749337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs570260523	chr6:58749356-58749357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs187134281	chr6:58749372-58749373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs114735622	chr6:58749375-58749376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs577963358	chr6:58749381-58749382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112140521	chr6:58749382-58749383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs535020521	chr6:58749384-58749385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs73481507	chr6:58749391-58749392	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs565626684	chr6:58749392-58749393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs554039640	chr6:58749425-58749426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs150199882	chr6:58749426-58749427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs576202740	chr6:58749440-58749441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs543125289	chr6:58749444-58749445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs558625238	chr6:58749450-58749451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs573958023	chr6:58749454-58749455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs576724991	chr6:58749486-58749487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
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
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58748800-58750400	ZNF genes & repeats	Liver	Liver
2	chr6:58762800-58763200	ZNF genes & repeats	Liver	Liver
3	chr6:58764600-58765800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:58765200-58769400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:58768000-58771000	ZNF genes & repeats	Liver	Liver
6	chr6:58769400-58769800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:58769600-58770000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:58769800-58773600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:58770000-58773400	Weak transcription	Aorta	Aorta
10	chr6:58770600-58770800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:58770800-58773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:58771000-58773400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:58771000-58773400	Weak transcription	Liver	Liver
14	chr6:58771200-58773400	Weak transcription	Adipose Nuclei	Adipose
15	chr6:58772600-58773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:58773400-58773600	Active TSS	Aorta	Aorta
17	chr6:58773400-58773600	Active TSS	Ovary	ovary
18	chr6:58773400-58773600	Active TSS	Psoas Muscle	Psoas
19	chr6:58773400-58774000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
20	chr6:58773400-58774000	Flanking Bivalent TSS/Enh	Hela-S3	cervix
21	chr6:58773400-58774800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:58773400-58774800	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr6:58773400-58774800	ZNF genes & repeats	Colon Smooth Muscle	Colon
24	chr6:58773400-58774800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
25	chr6:58773400-58774800	ZNF genes & repeats	Fetal Lung	lung
26	chr6:58773400-58774800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
27	chr6:58773400-58774800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
28	chr6:58773400-58774800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
29	chr6:58773400-58774800	ZNF genes & repeats	GM12878-XiMat	blood
30	chr6:58773400-58774800	ZNF genes & repeats	HUVEC	blood vessel
31	chr6:58773400-58775000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
32	chr6:58773400-58775000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:58773400-58775000	ZNF genes & repeats	Brain Anterior Caudate	brain
34	chr6:58773400-58775000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
35	chr6:58773400-58775000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:58773400-58775000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
37	chr6:58773400-58775000	ZNF genes & repeats	Dnd41	blood
38	chr6:58773400-58775200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:58773400-58775200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:58773400-58775200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
41	chr6:58773400-58775400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
42	chr6:58773400-58775400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
43	chr6:58773400-58775600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr6:58773400-58775600	ZNF genes & repeats	Liver	Liver
45	chr6:58773400-58775800	ZNF genes & repeats	HMEC	breast
46	chr6:58773400-58776000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:58773400-58776000	ZNF genes & repeats	NH-A	brain
48	chr6:58773400-58776200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:58773400-58776200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:58773400-58776400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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