Variant report

Variant	esv2574971
Chromosome Location	chr6:58775524-58775863
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:57920187..57922882-chr6:58774753..58776582,2	MCF-7	breast:
2	chr20:36661511..36663112-chr6:58773928..58776889,2	K562	blood:
3	chr12:80435495..80437852-chr6:58775102..58777367,2	MCF-7	breast:
4	chr17:57920709..57924714-chr6:58775095..58779071,5	MCF-7	breast:
5	chr12:117585721..117587663-chr6:58775712..58777632,2	MCF-7	breast:
6	chr1:117112641..117113268-chr6:58775753..58776519,2	MCF-7	breast:
7	chr20:46135534..46137185-chr6:58775644..58777423,2	MCF-7	breast:
8	chr1:201243876..201245779-chr6:58775647..58777227,2	MCF-7	breast:
9	chr12:38031932..38033432-chr6:58775709..58777615,2	MCF-7	breast:
10	chr14:19022553..19024053-chr6:58774785..58777168,2	MCF-7	breast:
11	chr16:85495639..85498852-chr6:58775657..58778770,3	MCF-7	breast:
12	chr6:58775076..58778073-chr8:103250732..103252303,2	K562	blood:
13	chr10:74031778..74033740-chr6:58774757..58776794,2	MCF-7	breast:
14	chr4:26787771..26789874-chr6:58775360..58778093,2	MCF-7	breast:
15	chr17:57697051..57699517-chr6:58775454..58778452,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168209	chromatin interactions
ENSG00000141367	chromatin interactions
ENSG00000246263	chromatin interactions
ENSG00000101413	chromatin interactions
ENSG00000101407	chromatin interactions
ENSG00000048392	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6941358	chr6:58775525-58775526	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs6588724	chr6:58775527-58775528	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs189690270	chr6:58775531-58775532	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs376956721	chr6:58775532-58775533	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs565972582	chr6:58775536-58775537	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs534069097	chr6:58775537-58775538	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs377049579	chr6:58775541-58775542	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs56143760	chr6:58775547-58775548	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs9500412	chr6:58775549-58775550	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs571387213	chr6:58775550-58775551	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs183384738	chr6:58775553-58775554	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs188951917	chr6:58775558-58775559	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs538221440	chr6:58775559-58775560	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs553706936	chr6:58775560-58775561	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs112381025	chr6:58775561-58775562	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs571993429	chr6:58775565-58775566	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs543297774	chr6:58775567-58775568	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs554852638	chr6:58775568-58775569	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs576184642	chr6:58775570-58775571	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs555667755	chr6:58775575-58775576	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs565007887	chr6:58775579-58775580	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs532626011	chr6:58775581-58775582	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs6941507	chr6:58775582-58775583	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs559693740	chr6:58775584-58775585	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs530077720	chr6:58775585-58775586	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs549256715	chr6:58775587-58775588	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs567567882	chr6:58775589-58775590	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs77679052	chr6:58775590-58775591	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs79670460	chr6:58775592-58775593	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs75357733	chr6:58775596-58775597	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs111251197	chr6:58775600-58775601	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs531505047	chr6:58775611-58775612	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs575514978	chr6:58775612-58775613	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs544451143	chr6:58775616-58775617	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs550016244	chr6:58775620-58775621	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs76114505	chr6:58775623-58775624	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs571381654	chr6:58775627-58775628	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs538724594	chr6:58775628-58775629	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs113680375	chr6:58775629-58775630	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs553628161	chr6:58775632-58775633	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs564344353	chr6:58775636-58775637	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs371630091	chr6:58775637-58775638	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs111991067	chr6:58775639-58775640	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs533528116	chr6:58775640-58775641	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs540387091	chr6:58775644-58775645	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs373094253	chr6:58775649-58775650	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs376276293	chr6:58775653-58775654	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs79279008	chr6:58775654-58775655	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs560610144	chr6:58775660-58775661	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs150366755	chr6:58775662-58775663	ZNF genes & repeats Weak 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:71 , 50 per page) page: 1 2

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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