Variant report

Variant	esv3405491
Chromosome Location	chr6:58773794-58774377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:27738271..27739820-chr6:58772163..58774918,2	MCF-7	breast:
2	chr6:58772384..58775379-chr6:58777406..58779060,3	K562	blood:
3	chr20:36661511..36663112-chr6:58773928..58776889,2	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	chr6:58772143..58775007-chr6:58776713..58778919,5	K562	blood:
7	chr6:58773141..58775009-chr6:58776566..58778429,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101407	chromatin interactions
ENSG00000101413	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562045358	chr6:58773796-58773797	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs74189573	chr6:58773804-58773805	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs79953895	chr6:58773811-58773812	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs529298763	chr6:58773817-58773818	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs140625398	chr6:58773820-58773821	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs77531321	chr6:58773821-58773822	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs150746830	chr6:58773824-58773825	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs530688606	chr6:58773825-58773826	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs77433488	chr6:58773826-58773827	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs140606377	chr6:58773827-58773828	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs7761340	chr6:58773828-58773829	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs377515656	chr6:58773830-58773831	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs112621404	chr6:58773831-58773832	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs144479446	chr6:58773836-58773837	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs76671034	chr6:58773838-58773839	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs74186351	chr6:58773840-58773841	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs80123621	chr6:58773841-58773842	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs74220723	chr6:58773844-58773845	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs74202956	chr6:58773845-58773846	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs78721901	chr6:58773848-58773849	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs74197155	chr6:58773850-58773851	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs62412773	chr6:58773860-58773861	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs74194878	chr6:58773861-58773862	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs376012399	chr6:58773868-58773869	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs77092798	chr6:58773874-58773875	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs74585142	chr6:58773880-58773881	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs370382354	chr6:58773881-58773882	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs74210428	chr6:58773883-58773884	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs79705995	chr6:58773888-58773889	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs74188848	chr6:58773895-58773896	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs79686625	chr6:58773900-58773901	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs74201733	chr6:58773905-58773906	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs36140327	chr6:58773915-58773916	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs75388868	chr6:58773917-58773918	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs79877760	chr6:58773920-58773921	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs74192004	chr6:58773926-58773927	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs76280423	chr6:58773927-58773928	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs540012021	chr6:58773930-58773931	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs60855878	chr6:58773931-58773932	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs76124259	chr6:58773936-58773937	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs74425864	chr6:58773937-58773938	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs57021044	chr6:58773938-58773939	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs62412775	chr6:58773939-58773940	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs78261376	chr6:58773941-58773942	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs573510525	chr6:58773945-58773946	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs74195209	chr6:58773947-58773948	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs79443241	chr6:58773952-58773953	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs74217648	chr6:58773953-58773954	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs534263668	chr6:58773957-58773958	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs555627502	chr6:58773961-58773962	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	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:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58773400-58774000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
2	chr6:58773400-58774000	Flanking Bivalent TSS/Enh	Hela-S3	cervix
3	chr6:58773400-58774800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:58773400-58774800	ZNF genes & repeats	Brain Hippocampus Middle	brain
5	chr6:58773400-58774800	ZNF genes & repeats	Colon Smooth Muscle	Colon
6	chr6:58773400-58774800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr6:58773400-58774800	ZNF genes & repeats	Fetal Lung	lung
8	chr6:58773400-58774800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
9	chr6:58773400-58774800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
10	chr6:58773400-58774800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
11	chr6:58773400-58774800	ZNF genes & repeats	GM12878-XiMat	blood
12	chr6:58773400-58774800	ZNF genes & repeats	HUVEC	blood vessel
13	chr6:58773400-58775000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
14	chr6:58773400-58775000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:58773400-58775000	ZNF genes & repeats	Brain Anterior Caudate	brain
16	chr6:58773400-58775000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
17	chr6:58773400-58775000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:58773400-58775000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr6:58773400-58775000	ZNF genes & repeats	Dnd41	blood
20	chr6:58773400-58775200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:58773400-58775200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:58773400-58775200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
23	chr6:58773400-58775400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
24	chr6:58773400-58775400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr6:58773400-58775600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr6:58773400-58775600	ZNF genes & repeats	Liver	Liver
27	chr6:58773400-58775800	ZNF genes & repeats	HMEC	breast
28	chr6:58773400-58776000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:58773400-58776000	ZNF genes & repeats	NH-A	brain
30	chr6:58773400-58776200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:58773400-58776200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:58773400-58776400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:58773400-58776400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr6:58773400-58776600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr6:58773400-58776600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr6:58773400-58776600	ZNF genes & repeats	Gastric	stomach
37	chr6:58773400-58776600	ZNF genes & repeats	Small Intestine	intestine
38	chr6:58773400-58779400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr6:58773400-58779400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:58773400-58779400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:58773400-58779400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
42	chr6:58773400-58779400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
43	chr6:58773400-58779400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
44	chr6:58773400-58779400	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr6:58773400-58779400	ZNF genes & repeats	Fetal Stomach	stomach
46	chr6:58773400-58779400	ZNF genes & repeats	Left Ventricle	heart
47	chr6:58773600-58773800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:58773600-58773800	ZNF genes & repeats	Aorta	Aorta
49	chr6:58773600-58773800	Active TSS	NHLF	lung
50	chr6:58773600-58774000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived

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