Variant report

Variant	esv2493927
Chromosome Location	chr6:58776937-58776937
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:58)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:38031911..38033432-chr6:58776341..58779018,2	MCF-7	breast:
2	chr20:17516282..17517977-chr6:58775914..58778767,2	MCF-7	breast:
3	chr6:58776657..58777247-chrX:136737324..136737914,2	MCF-7	breast:
4	chr6:58776722..58778356-chr8:48323824..48325324,2	MCF-7	breast:
5	chr2:219259923..219262856-chr6:58776591..58778942,2	MCF-7	breast:
6	chr1:216349276..216351630-chr6:58776732..58778763,2	MCF-7	breast:
7	chr12:38032931..38033431-chr6:58776879..58777388,2	MCF-7	breast:
8	chr6:58776890..58777662-chr7:5569763..5570677,2	Hela-S3	cervix:
9	chr6:58772143..58775007-chr6:58776713..58778919,5	K562	blood:
10	chr17:57914586..57918340-chr6:58776843..58780440,4	MCF-7	breast:
11	chr6:30581365..30583375-chr6:58776545..58779152,2	MCF-7	breast:
12	chr21:35272607..35275458-chr6:58776178..58778758,2	MCF-7	breast:
13	chr17:73716896..73718915-chr6:58776651..58778729,2	MCF-7	breast:
14	chr5:157496471..157496971-chr6:58776705..58777406,2	MCF-7	breast:
15	chr17:57928094..57930742-chr6:58776120..58778676,4	MCF-7	breast:
16	chr6:58776858..58779077-chr6:61908295..61909815,2	MCF-7	breast:
17	chr20:52327864..52329489-chr6:58775870..58778258,2	MCF-7	breast:
18	chr1:201243876..201245779-chr6:58775647..58777227,2	MCF-7	breast:
19	chr12:38031932..38033432-chr6:58775709..58777615,2	MCF-7	breast:
20	chr3:63980131..63982580-chr6:58776275..58779243,2	MCF-7	breast:
21	chr14:19022553..19024053-chr6:58774785..58777168,2	MCF-7	breast:
22	chr20:46135534..46137185-chr6:58775644..58777423,2	MCF-7	breast:
23	chr22:32301912..32302764-chr6:58776740..58777661,2	MCF-7	breast:
24	chr17:56707689..56709464-chr6:58776179..58779153,2	MCF-7	breast:
25	chr15:50229689..50230313-chr6:58776456..58777229,2	MCF-7	breast:
26	chr11:66445363..66446008-chr6:58776703..58777356,2	MCF-7	breast:
27	chr4:26787771..26789874-chr6:58775360..58778093,2	MCF-7	breast:
28	chr6:58773141..58775009-chr6:58776566..58778429,2	MCF-7	breast:
29	chr16:85495639..85498852-chr6:58775657..58778770,3	MCF-7	breast:
30	chr12:117585721..117587663-chr6:58775712..58777632,2	MCF-7	breast:
31	chr6:58776666..58779159-chr8:125462787..125464378,2	MCF-7	breast:
32	chr6:31849956..31851616-chr6:58776203..58778751,2	MCF-7	breast:
33	chr6:58776676..58777225-chr8:72532546..72533088,2	MCF-7	breast:
34	chr4:44422694..44424195-chr6:58776128..58778515,2	MCF-7	breast:
35	chr2:109819769..109820303-chr6:58776869..58777442,2	MCF-7	breast:
36	chr17:57697051..57699517-chr6:58775454..58778452,2	MCF-7	breast:
37	chr17:56735441..56738187-chr6:58776197..58778735,2	MCF-7	breast:
38	chr6:58775915..58778901-chr8:144691705..144693500,2	MCF-7	breast:
39	chr6:58776120..58778273-chr8:145699925..145701982,2	MCF-7	breast:
40	chr17:57920709..57924714-chr6:58775095..58779071,5	MCF-7	breast:
41	chr3:90450072..90451589-chr6:58776092..58777719,4	MCF-7	breast:
42	chr2:38304500..38306516-chr6:58776846..58778352,2	MCF-7	breast:
43	chr20:45984506..45987023-chr6:58776231..58780015,3	MCF-7	breast:
44	chr3:90451069..90451589-chr6:58776919..58777844,3	MCF-7	breast:
45	chr6:58776637..58777632-chr8:18871298..18871912,2	HCT-116	colon:
46	chr14:77757334..77757890-chr6:58776828..58777663,2	MCF-7	breast:
47	chr12:80435495..80437852-chr6:58775102..58777367,2	MCF-7	breast:
48	chr6:58776711..58777237-chr8:105771574..105772190,2	MCF-7	breast:
49	chr3:90450069..90451571-chr6:58776178..58778913,3	MCF-7	breast:
50	chr5:157496470..157497451-chr6:58776593..58777234,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000062716	chromatin interactions
ENSG00000009830	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000160325	chromatin interactions
ENSG00000230513	chromatin interactions
ENSG00000141367	chromatin interactions
ENSG00000184436	chromatin interactions
ENSG00000246263	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000065135	chromatin interactions
ENSG00000173914	chromatin interactions
ENSG00000048392	chromatin interactions
ENSG00000104524	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000160973	chromatin interactions
ENSG00000183665	chromatin interactions
ENSG00000237080	chromatin interactions
ENSG00000132470	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 61 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9391329	chr6:58776937-58776938	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	20 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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58773400-58779400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr6:58773400-58779400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:58773400-58779400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:58773400-58779400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr6:58773400-58779400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr6:58773400-58779400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr6:58773400-58779400	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr6:58773400-58779400	ZNF genes & repeats	Fetal Stomach	stomach
9	chr6:58773400-58779400	ZNF genes & repeats	Left Ventricle	heart
10	chr6:58773600-58779200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
11	chr6:58773600-58779400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
12	chr6:58773600-58779400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr6:58773600-58779400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr6:58773600-58779400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr6:58773600-58779400	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr6:58773600-58779400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
17	chr6:58773600-58779400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:58773600-58779400	ZNF genes & repeats	Fetal Intestine Large	intestine
19	chr6:58776200-58779400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:58776400-58778200	ZNF genes & repeats	Brain Germinal Matrix	brain
21	chr6:58776400-58779200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:58776400-58779400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:58776400-58779400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
24	chr6:58776400-58779400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:58776400-58779400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
26	chr6:58776400-58779400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
27	chr6:58776600-58777000	ZNF genes & repeats	HepG2	liver
28	chr6:58776600-58777200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:58776600-58777200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
30	chr6:58776600-58777200	Flanking Bivalent TSS/Enh	Osteobl	bone
31	chr6:58776600-58777400	Flanking Bivalent TSS/Enh	Pancreas	Pancrea
32	chr6:58776600-58777400	Flanking Bivalent TSS/Enh	HSMMtube	muscle
33	chr6:58776600-58777400	Flanking Bivalent TSS/Enh	NHLF	lung
34	chr6:58776600-58777600	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:58776600-58777600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
36	chr6:58776600-58777800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
37	chr6:58776600-58777800	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
38	chr6:58776600-58777800	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
39	chr6:58776600-58777800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
40	chr6:58776600-58777800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
41	chr6:58776600-58777800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
42	chr6:58776600-58777800	Flanking Bivalent TSS/Enh	Pancreatic Islets	Pancreatic Islet
43	chr6:58776600-58777800	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
44	chr6:58776600-58777800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
45	chr6:58776600-58777800	Flanking Bivalent TSS/Enh	Dnd41	blood
46	chr6:58776600-58778000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:58776600-58778000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
48	chr6:58776600-58778400	ZNF genes & repeats	Esophagus	oesophagus
49	chr6:58776600-58778800	Bivalent/Poised TSS	K562	blood
50	chr6:58776600-58779200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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