Variant report

Variant	esv3475110
Chromosome Location	chr6:26575704-26577436
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26574454..26577093-chr6:27063520..27065530,2	K562	blood:
2	chr6:26575403..26577801-chr6:26599976..26601665,3	K562	blood:
3	chr6:26308793..26311615-chr6:26576648..26578287,2	K562	blood:
4	chr6:26327970..26330676-chr6:26575820..26578738,2	K562	blood:
5	chr6:26576770..26577438-chr6:26595189..26595697,2	K562	blood:
6	chr6:26574296..26575923-chr6:27099211..27101258,2	K562	blood:
7	chr6:26216001..26219242-chr6:26574102..26578957,5	K562	blood:
8	chr6:26568033..26580216-chr6:26588796..26603066,49	K562	blood:
9	chr6:26215403..26219104-chr6:26575436..26578957,4	K562	blood:
10	chr6:26195366..26197728-chr6:26574483..26577323,2	K562	blood:
11	chr6:26535611..26540047-chr6:26576394..26579600,4	K562	blood:
12	chr6:26571513..26576040-chr6:26594296..26598668,8	MCF-7	breast:
13	chr6:26402744..26404382-chr6:26575217..26577628,2	K562	blood:
14	chr6:26572998..26574679-chr6:26574747..26576254,2	MCF-7	breast:
15	chr6:26291552..26293957-chr6:26573124..26576055,2	K562	blood:
16	chr6:26575954..26578514-chr6:27111915..27114661,2	K562	blood:
17	chr6:26568887..26570876-chr6:26573166..26576074,2	MCF-7	breast:
18	chr6:26576709..26579469-chr6:26595010..26597747,2	MCF-7	breast:
19	chr6:26541729..26543411-chr6:26576160..26577936,2	K562	blood:
20	chr6:26285889..26287811-chr6:26576369..26578960,2	K562	blood:
21	chr6:26576158..26578683-chr6:27099793..27101418,3	K562	blood:
22	chr6:26520128..26522932-chr6:26576156..26579285,4	K562	blood:
23	chr6:26566413..26579648-chr6:26592370..26599609,38	K562	blood:
24	chr6:26341150..26343678-chr6:26575652..26577197,2	K562	blood:
25	chr6:26575952..26578920-chr6:26582301..26585861,4	K562	blood:
26	chr6:26575145..26580691-chr6:26582301..26587887,10	K562	blood:
27	chr6:26311713..26314020-chr6:26575069..26576687,2	K562	blood:
28	chr6:26029513..26031973-chr6:26575071..26576731,2	K562	blood:
29	chr6:26536620..26538867-chr6:26576288..26578360,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197409	chromatin interactions
ENSG00000146109	chromatin interactions
ENSG00000216331	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000228223	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000182952	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000168274	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376482202	chr6:26575713-26575714	Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs528243914	chr6:26575728-26575729	Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs372756702	chr6:26575756-26575757	Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs368825107	chr6:26575780-26575781	Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs564844749	chr6:26575782-26575783	Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs116574109	chr6:26575786-26575787	Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs181519527	chr6:26575789-26575790	Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs566911391	chr6:26575793-26575794	Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs74565204	chr6:26575799-26575800	Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs535861485	chr6:26575805-26575806	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs143116499	chr6:26575820-26575821	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs72844477	chr6:26575823-26575824	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538146511	chr6:26575826-26575827	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs556480758	chr6:26575834-26575835	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs559096378	chr6:26575838-26575839	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs575793793	chr6:26575845-26575846	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs544695712	chr6:26575851-26575852	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs146642536	chr6:26575854-26575855	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs574848797	chr6:26575864-26575865	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs540651082	chr6:26575877-26575878	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs139952747	chr6:26575881-26575882	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs114298927	chr6:26575882-26575883	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs149848195	chr6:26575884-26575885	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs565071019	chr6:26575885-26575886	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs372698510	chr6:26575888-26575889	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs16891836	chr6:26575889-26575890	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550227316	chr6:26575907-26575908	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs73738502	chr6:26575910-26575911	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189219693	chr6:26575932-26575933	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs72844478	chr6:26575958-26575959	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs546199134	chr6:26575961-26575962	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs566384531	chr6:26575967-26575968	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs539314618	chr6:26575978-26575979	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs1570061	chr6:26575986-26575987	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs181261997	chr6:26576018-26576019	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs538453122	chr6:26576019-26576020	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs555069339	chr6:26576048-26576049	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs574987408	chr6:26576059-26576060	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs534140258	chr6:26576079-26576080	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs370345783	chr6:26576086-26576087	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs532781698	chr6:26576111-26576112	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs554135474	chr6:26576158-26576159	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs147073579	chr6:26576168-26576169	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs147680611	chr6:26576225-26576226	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs565049334	chr6:26576229-26576230	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs575071082	chr6:26576302-26576303	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs542796166	chr6:26576351-26576352	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs544007836	chr6:26576366-26576367	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs560611741	chr6:26576369-26576370	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs186473040	chr6:26576379-26576380	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	21569311	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26569600-26577600	Weak transcription	Spleen	Spleen
2	chr6:26573000-26576600	Weak transcription	NHLF	lung
3	chr6:26573000-26576800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:26573000-26576800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:26573000-26577000	Weak transcription	Brain Substantia Nigra	brain
6	chr6:26573000-26577200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:26573000-26577600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:26573200-26576000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:26573200-26576000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:26573200-26576600	Weak transcription	Adipose Nuclei	Adipose
11	chr6:26573200-26576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:26573200-26577000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr6:26573200-26577000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:26573200-26577400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:26573400-26575800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:26573400-26575800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:26573400-26575800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:26573400-26575800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr6:26573400-26575800	Weak transcription	Hela-S3	cervix
20	chr6:26573400-26576000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:26573400-26576000	Weak transcription	A549	lung
22	chr6:26573400-26576200	Weak transcription	NHEK	skin
23	chr6:26573400-26576400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr6:26573400-26576400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:26573400-26576400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr6:26573400-26576600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr6:26573400-26576600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:26573400-26576800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:26573400-26576800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:26573400-26576800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:26573400-26576800	Weak transcription	Brain Anterior Caudate	brain
32	chr6:26573400-26577000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr6:26573400-26577000	Weak transcription	HMEC	breast
34	chr6:26573400-26577200	Weak transcription	Dnd41	blood
35	chr6:26573400-26577400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:26573400-26577400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:26573400-26577400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:26573600-26575800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:26573600-26575800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:26573600-26575800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:26573600-26575800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:26573600-26576400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr6:26573600-26576800	Weak transcription	Osteobl	bone
44	chr6:26574000-26576200	Weak transcription	GM12878-XiMat	blood
45	chr6:26574200-26576800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:26574600-26576000	Weak transcription	HepG2	liver
47	chr6:26575600-26575800	Enhancers	K562	blood
48	chr6:26575600-26578600	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr6:26575800-26576200	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr6:26575800-26576400	Active TSS	iPS-18 Cell Line	embryonic stem cell

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