Variant report

Variant	esv2443412
Chromosome Location	chr6:58778227-58778230
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:66)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr20:45984506..45987023-chr6:58776231..58780015,3	MCF-7	breast:
2	chr17:57930610..57932922-chr6:58777438..58780644,3	MCF-7	breast:
3	chr20:19633644..19634334-chr6:58777686..58778513,2	MCF-7	breast:
4	chr6:49499719..49500373-chr6:58777827..58778441,2	MCF-7	breast:
5	chr2:219259923..219262856-chr6:58776591..58778942,2	MCF-7	breast:
6	chr20:52424572..52427398-chr6:58777006..58778744,2	MCF-7	breast:
7	chr4:44423714..44424215-chr6:58777839..58778663,2	MCF-7	breast:
8	chr14:70592691..70594528-chr6:58777109..58778754,2	MCF-7	breast:
9	chr20:52238301..52240090-chr6:58777406..58779226,2	MCF-7	breast:
10	chr19:35488627..35490321-chr6:58777408..58779728,2	MCF-7	breast:
11	chr17:79008190..79010769-chr6:58777233..58779265,2	MCF-7	breast:
12	chr17:73716896..73718915-chr6:58776651..58778729,2	MCF-7	breast:
13	chr3:90450069..90451571-chr6:58776178..58778913,3	MCF-7	breast:
14	chr12:38031911..38033432-chr6:58776341..58779018,2	MCF-7	breast:
15	chr6:58776858..58779077-chr6:61908295..61909815,2	MCF-7	breast:
16	chr17:57918618..57920889-chr6:58777178..58778919,2	MCF-7	breast:
17	chr6:58777671..58778345-chr6:61909292..61909815,4	MCF-7	breast:
18	chr17:57697051..57699517-chr6:58775454..58778452,2	MCF-7	breast:
19	chr6:58777416..58779792-chr6:77801547..77804072,2	MCF-7	breast:
20	chr6:58773141..58775009-chr6:58776566..58778429,2	MCF-7	breast:
21	chr3:63980131..63982580-chr6:58776275..58779243,2	MCF-7	breast:
22	chr2:135217803..135218666-chr6:58777553..58778353,2	MCF-7	breast:
23	chr13:20943879..20946266-chr6:58777671..58779217,2	MCF-7	breast:
24	chr6:58777390..58779179-chr6:133135024..133136911,2	MCF-7	breast:
25	chr2:38304500..38306516-chr6:58776846..58778352,2	MCF-7	breast:
26	chr17:57928094..57930742-chr6:58776120..58778676,4	MCF-7	breast:
27	chr20:52327864..52329489-chr6:58775870..58778258,2	MCF-7	breast:
28	chr16:73430630..73432387-chr6:58777761..58779339,2	MCF-7	breast:
29	chr4:44422694..44424195-chr6:58776128..58778515,2	MCF-7	breast:
30	chr16:85495639..85498852-chr6:58775657..58778770,3	MCF-7	breast:
31	chr6:58772143..58775007-chr6:58776713..58778919,5	K562	blood:
32	chr6:58777707..58778511-chr6:61909313..61909813,2	MCF-7	breast:
33	chr22:21356184..21359058-chr6:58776120..58778924,2	MCF-7	breast:
34	chr6:58776666..58779159-chr8:125462787..125464378,2	MCF-7	breast:
35	chr1:216349276..216351630-chr6:58776732..58778763,2	MCF-7	breast:
36	chr13:111364963..111367929-chr6:58777252..58779728,2	MCF-7	breast:
37	chr6:30581365..30583375-chr6:58776545..58779152,2	MCF-7	breast:
38	chr6:58777993..58779849-chr8:94211437..94213575,2	MCF-7	breast:
39	chr6:58776722..58778356-chr8:48323824..48325324,2	MCF-7	breast:
40	chr6:31849956..31851616-chr6:58776203..58778751,2	MCF-7	breast:
41	chr6:27805995..27806602-chr6:58778107..58778767,2	MCF-7	breast:
42	chr11:58677524..58679024-chr6:58777164..58778728,2	K562	blood:
43	chr6:58777712..58778738-chr6:61909295..61909815,6	MCF-7	breast:
44	chr17:46984708..46987154-chr6:58777011..58778755,2	MCF-7	breast:
45	chr6:27776232..27779951-chr6:58776955..58780402,3	MCF-7	breast:
46	chr20:17516282..17517977-chr6:58775914..58778767,2	MCF-7	breast:
47	chr17:59487756..59489295-chr6:58776969..58779008,2	MCF-7	breast:
48	chr17:57914586..57918340-chr6:58776843..58780440,4	MCF-7	breast:
49	chr17:57920709..57924714-chr6:58775095..58779071,5	MCF-7	breast:
50	chr20:60960325..60962671-chr6:58777619..58780127,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233822	chromatin interactions
ENSG00000207713	chromatin interactions
ENSG00000136997	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000175866	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000111321	chromatin interactions
ENSG00000184348	chromatin interactions
ENSG00000089351	chromatin interactions
ENSG00000207708	chromatin interactions
ENSG00000183665	chromatin interactions
ENSG00000257084	chromatin interactions
ENSG00000160325	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000159202	chromatin interactions
ENSG00000132470	chromatin interactions
ENSG00000184436	chromatin interactions
ENSG00000171858	chromatin interactions
ENSG00000255326	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000248278	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000206754	chromatin interactions
ENSG00000104524	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000126749	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000112306	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000141367	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000230513	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000160973	chromatin interactions
ENSG00000268858	chromatin interactions
ENSG00000226137	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000237080	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	rs9500571	chr6:58778228-58778229	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	39 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:126 , 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	chr6:58776400-58779200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:58776400-58779400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:58776400-58779400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
23	chr6:58776400-58779400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:58776400-58779400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
25	chr6:58776400-58779400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr6:58776600-58778400	ZNF genes & repeats	Esophagus	oesophagus
27	chr6:58776600-58778800	Bivalent/Poised TSS	K562	blood
28	chr6:58776600-58779200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:58776600-58779200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
30	chr6:58776600-58779200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:58776600-58779200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:58776600-58779200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:58776600-58779200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:58776600-58779200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:58776600-58779200	ZNF genes & repeats	Fetal Brain Male	brain
36	chr6:58776600-58779200	ZNF genes & repeats	Fetal Brain Female	brain
37	chr6:58776600-58779200	ZNF genes & repeats	Fetal Heart	heart
38	chr6:58776600-58779200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
39	chr6:58776600-58779200	ZNF genes & repeats	Lung	lung
40	chr6:58776600-58779200	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
41	chr6:58776600-58779200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
42	chr6:58776600-58779200	Flanking Bivalent TSS/Enh	A549	lung
43	chr6:58776600-58779200	ZNF genes & repeats	GM12878-XiMat	blood
44	chr6:58776600-58779200	ZNF genes & repeats	HMEC	breast
45	chr6:58776600-58779200	Transcr. at gene 5' and 3'	NHEK	skin
46	chr6:58776600-58779400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr6:58776600-58779400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:58776600-58779400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:58776600-58779400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:58776600-58779400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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