Variant report

Variant	esv3404794
Chromosome Location	chr6:58775461-58776606
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:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:74031778..74033740-chr6:58774757..58776794,2	MCF-7	breast:
2	chr5:157496470..157497451-chr6:58776593..58777234,3	MCF-7	breast:
3	chr21:9826269..9827015-chr6:58776389..58777037,2	MCF-7	breast:
4	chr17:57920709..57924714-chr6:58775095..58779071,5	MCF-7	breast:
5	chr2:219259923..219262856-chr6:58776591..58778942,2	MCF-7	breast:
6	chr17:57697051..57699517-chr6:58775454..58778452,2	MCF-7	breast:
7	chr20:36661511..36663112-chr6:58773928..58776889,2	K562	blood:
8	chr20:52327864..52329489-chr6:58775870..58778258,2	MCF-7	breast:
9	chr17:57928094..57930742-chr6:58776120..58778676,4	MCF-7	breast:
10	chr6:58775915..58778901-chr8:144691705..144693500,2	MCF-7	breast:
11	chr6:58775076..58778073-chr8:103250732..103252303,2	K562	blood:
12	chr12:38031932..38033432-chr6:58775709..58777615,2	MCF-7	breast:
13	chr3:90450069..90451571-chr6:58776178..58778913,3	MCF-7	breast:
14	chr3:63980131..63982580-chr6:58776275..58779243,2	MCF-7	breast:
15	chr16:85495639..85498852-chr6:58775657..58778770,3	MCF-7	breast:
16	chr17:56707619..56709303-chr6:58776177..58777680,2	MCF-7	breast:
17	chr21:35272607..35275458-chr6:58776178..58778758,2	MCF-7	breast:
18	chr1:201243876..201245779-chr6:58775647..58777227,2	MCF-7	breast:
19	chr4:44422694..44424195-chr6:58776128..58778515,2	MCF-7	breast:
20	chr17:57920187..57922882-chr6:58774753..58776582,2	MCF-7	breast:
21	chr4:26787771..26789874-chr6:58775360..58778093,2	MCF-7	breast:
22	chr6:30581365..30583375-chr6:58776545..58779152,2	MCF-7	breast:
23	chr12:117585721..117587663-chr6:58775712..58777632,2	MCF-7	breast:
24	chr20:45984506..45987023-chr6:58776231..58780015,3	MCF-7	breast:
25	chr20:46135534..46137185-chr6:58775644..58777423,2	MCF-7	breast:
26	chr6:58773141..58775009-chr6:58776566..58778429,2	MCF-7	breast:
27	chr14:19022553..19024053-chr6:58774785..58777168,2	MCF-7	breast:
28	chr22:21356184..21359058-chr6:58776120..58778924,2	MCF-7	breast:
29	chr17:56735441..56738187-chr6:58776197..58778735,2	MCF-7	breast:
30	chr3:90450072..90451589-chr6:58776092..58777719,4	MCF-7	breast:
31	chr20:46012525..46013472-chr6:58776071..58776784,2	MCF-7	breast:
32	chr17:56707689..56709464-chr6:58776179..58779153,2	MCF-7	breast:
33	chr6:31849956..31851616-chr6:58776203..58778751,2	MCF-7	breast:
34	chr15:50229689..50230313-chr6:58776456..58777229,2	MCF-7	breast:
35	chr1:117112641..117113268-chr6:58775753..58776519,2	MCF-7	breast:
36	chr12:80435495..80437852-chr6:58775102..58777367,2	MCF-7	breast:
37	chr20:17516282..17517977-chr6:58775914..58778767,2	MCF-7	breast:
38	chr12:38031911..38033432-chr6:58776341..58779018,2	MCF-7	breast:
39	chr20:19348440..19350405-chr6:58776310..58778887,2	MCF-7	breast:
40	chr6:58776120..58778273-chr8:145699925..145701982,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141367	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000230513	chromatin interactions
ENSG00000184436	chromatin interactions
ENSG00000048392	chromatin interactions
ENSG00000160973	chromatin interactions
ENSG00000101407	chromatin interactions
ENSG00000101413	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000237080	chromatin interactions
ENSG00000246263	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000104524	chromatin interactions
ENSG00000202077	chromatin interactions

Extended variants
information (count: 569 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:569 , 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	rs375732276	chr6:58775461-58775462	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs60780146	chr6:58775462-58775463	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs79749348	chr6:58775465-58775466	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs112768152	chr6:58775466-58775467	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs571298639	chr6:58775469-58775470	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs538658577	chr6:58775471-58775472	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs6903638	chr6:58775473-58775474	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs566783675	chr6:58775475-58775476	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs533711078	chr6:58775476-58775477	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs555519855	chr6:58775477-58775478	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs62412783	chr6:58775478-58775479	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs370098180	chr6:58775480-58775481	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs573907335	chr6:58775483-58775484	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs77786342	chr6:58775484-58775485	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs537935143	chr6:58775485-58775486	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs556333045	chr6:58775486-58775487	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs111505736	chr6:58775491-58775492	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs544991810	chr6:58775492-58775493	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs75271581	chr6:58775493-58775494	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs572684292	chr6:58775494-58775495	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs542979915	chr6:58775495-58775496	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs372376437	chr6:58775497-58775498	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs561145217	chr6:58775498-58775499	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs553786598	chr6:58775500-58775501	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs113379268	chr6:58775503-58775504	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs377145660	chr6:58775506-58775507	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs573571725	chr6:58775509-58775510	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs369123992	chr6:58775513-58775514	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs373595596	chr6:58775515-58775516	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs565042995	chr6:58775516-58775517	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs377580539	chr6:58775517-58775518	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs76782127	chr6:58775519-58775520	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs78399720	chr6:58775520-58775521	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs368886175	chr6:58775521-58775522	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs373085959	chr6:58775522-58775523	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs6941358	chr6:58775525-58775526	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs6588724	chr6:58775527-58775528	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs189690270	chr6:58775531-58775532	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs376956721	chr6:58775532-58775533	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs565972582	chr6:58775536-58775537	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs534069097	chr6:58775537-58775538	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs377049579	chr6:58775541-58775542	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs56143760	chr6:58775547-58775548	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs9500412	chr6:58775549-58775550	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs571387213	chr6:58775550-58775551	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs183384738	chr6:58775553-58775554	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs188951917	chr6:58775558-58775559	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs538221440	chr6:58775559-58775560	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs553706936	chr6:58775560-58775561	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs112381025	chr6:58775561-58775562	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 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:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58773400-58775600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr6:58773400-58775600	ZNF genes & repeats	Liver	Liver
3	chr6:58773400-58775800	ZNF genes & repeats	HMEC	breast
4	chr6:58773400-58776000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:58773400-58776000	ZNF genes & repeats	NH-A	brain
6	chr6:58773400-58776200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:58773400-58776200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:58773400-58776400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:58773400-58776400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr6:58773400-58776600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr6:58773400-58776600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr6:58773400-58776600	ZNF genes & repeats	Gastric	stomach
13	chr6:58773400-58776600	ZNF genes & repeats	Small Intestine	intestine
14	chr6:58773400-58779400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr6:58773400-58779400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:58773400-58779400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:58773400-58779400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr6:58773400-58779400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr6:58773400-58779400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
20	chr6:58773400-58779400	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr6:58773400-58779400	ZNF genes & repeats	Fetal Stomach	stomach
22	chr6:58773400-58779400	ZNF genes & repeats	Left Ventricle	heart
23	chr6:58773600-58776600	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr6:58773600-58776600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:58773600-58779200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
26	chr6:58773600-58779400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
27	chr6:58773600-58779400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr6:58773600-58779400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr6:58773600-58779400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr6:58773600-58779400	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr6:58773600-58779400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
32	chr6:58773600-58779400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:58773600-58779400	ZNF genes & repeats	Fetal Intestine Large	intestine
34	chr6:58774800-58775800	Weak transcription	HSMMtube	muscle
35	chr6:58774800-58776400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:58774800-58776400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:58774800-58776400	Weak transcription	Brain Germinal Matrix	brain
38	chr6:58774800-58776600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:58774800-58776600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:58774800-58776600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:58774800-58776600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr6:58774800-58776600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr6:58774800-58776600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:58774800-58776600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:58774800-58776600	Weak transcription	Brain Hippocampus Middle	brain
46	chr6:58774800-58776600	Weak transcription	Esophagus	oesophagus
47	chr6:58774800-58776600	Weak transcription	Fetal Brain Male	brain
48	chr6:58774800-58776600	Weak transcription	Fetal Heart	heart
49	chr6:58774800-58776600	Weak transcription	Fetal Kidney	kidney
50	chr6:58774800-58776600	Weak transcription	Placenta	Placenta

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