Variant report

Variant	esv3488799
Chromosome Location	chr6:26343822-26351574
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26351127..26352720-chr6:26382336..26385327,2	K562	blood:
2	chr6:26343594..26345212-chr6:26474079..26475915,2	K562	blood:
3	chr1:17221559..17223078-chr6:26350716..26352216,2	MCF-7	breast:
4	chr6:26350529..26353058-chr6:26354416..26356563,2	K562	blood:
5	chr6:26340224..26344158-chr6:26569567..26573981,6	K562	blood:
6	chr6:26346422..26348741-chr6:26456867..26458564,3	K562	blood:
7	chr6:26345077..26347178-chr6:26389815..26392658,2	K562	blood:
8	chr6:26341478..26343917-chr6:26362438..26365038,2	K562	blood:
9	chr6:26345080..26346941-chr6:26520838..26522730,2	K562	blood:
10	chr1:17222072..17224236-chr6:26350716..26352236,2	K562	blood:
11	chr6:26346737..26349010-chr6:26483438..26485200,2	K562	blood:
12	chr6:26342125..26345094-chr6:26474079..26475850,2	K562	blood:
13	chr6:26342033..26344696-chr6:26521826..26523631,2	MCF-7	breast:
14	chr6:26345126..26347534-chr6:26601972..26604774,2	K562	blood:
15	chr6:26350096..26351709-chr6:26521212..26523157,2	K562	blood:
16	chr6:26342168..26345048-chr6:26509847..26512007,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228223	chromatin interactions
ENSG00000112763	chromatin interactions
ENSG00000207005	chromatin interactions
ENSG00000124508	chromatin interactions

Extended variants
information (count: 266 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566512733	chr6:26343847-26343848	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs532639388	chr6:26343876-26343877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77088041	chr6:26343917-26343918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569480201	chr6:26344013-26344014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143655582	chr6:26344231-26344232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs116161667	chr6:26344333-26344334	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555306429	chr6:26344365-26344366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534135621	chr6:26344401-26344402	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570325835	chr6:26344555-26344556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148071656	chr6:26344558-26344559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577258680	chr6:26344561-26344562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544921440	chr6:26344608-26344609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558694195	chr6:26344687-26344688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548502050	chr6:26344699-26344700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368666874	chr6:26344710-26344711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544113295	chr6:26344730-26344731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560819259	chr6:26344759-26344760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187437400	chr6:26344818-26344819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540218170	chr6:26344828-26344829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560039174	chr6:26344843-26344844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532214952	chr6:26344844-26344845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201539736	chr6:26344845-26344846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377742551	chr6:26344849-26344850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552533420	chr6:26344874-26344875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140862681	chr6:26344910-26344911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10946812	chr6:26344975-26344976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs145957764	chr6:26345007-26345008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568730222	chr6:26345018-26345019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368370857	chr6:26345035-26345036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371575362	chr6:26345126-26345127	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs10946813	chr6:26345141-26345142	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs570884428	chr6:26345185-26345186	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs138795545	chr6:26345190-26345191	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs376960234	chr6:26345290-26345291	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs375397251	chr6:26345409-26345410	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs143885039	chr6:26345420-26345421	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs557914571	chr6:26345423-26345424	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs556346252	chr6:26345440-26345441	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs575116544	chr6:26345454-26345455	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs553683256	chr6:26345462-26345463	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs59219950	chr6:26345470-26345471	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs537600434	chr6:26345477-26345478	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs60967300	chr6:26345506-26345507	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368360404	chr6:26345519-26345520	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs142759025	chr6:26345556-26345557	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs539877768	chr6:26345566-26345567	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs560080187	chr6:26345672-26345673	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs576730904	chr6:26345702-26345703	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs541198076	chr6:26345796-26345797	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs147386715	chr6:26345818-26345819	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Multiple myeloma	17550852	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
Burkitt''s lymphoma	19759907	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
Breast cancer	21364760	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
Autism	22495309	CNVD
Lung cancer	21569311	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	20531469	CNVD
Acute lymphoblastic leukemia	19100363	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26342400-26351800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:26342600-26344000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:26342600-26350200	Weak transcription	Hela-S3	cervix
4	chr6:26342800-26348000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:26342800-26349800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:26343000-26346400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:26343000-26350800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:26343200-26344200	Weak transcription	K562	blood
9	chr6:26343200-26348600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:26343200-26352400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:26343400-26346200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:26343400-26347600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:26343400-26348000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:26343600-26344400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:26343600-26346000	Weak transcription	A549	lung
16	chr6:26343800-26345000	Weak transcription	HepG2	liver
17	chr6:26344000-26348600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:26344200-26349000	Enhancers	K562	blood
19	chr6:26345000-26350400	Enhancers	HepG2	liver
20	chr6:26346000-26346800	Enhancers	A549	lung
21	chr6:26346200-26346800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:26346400-26346800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:26346800-26348000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:26346800-26348000	Weak transcription	A549	lung
25	chr6:26347600-26349000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:26347800-26348800	Enhancers	Fetal Intestine Small	intestine
27	chr6:26347800-26349000	Enhancers	Fetal Intestine Large	intestine
28	chr6:26348000-26348200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr6:26348000-26348200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:26348000-26348200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:26348000-26348200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:26348000-26348800	Enhancers	A549	lung
33	chr6:26348000-26349000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:26348000-26355600	Weak transcription	Fetal Thymus	thymus
35	chr6:26348200-26348400	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr6:26348200-26348600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:26348200-26348800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr6:26348200-26349000	Enhancers	Stomach Mucosa	stomach
39	chr6:26348200-26349200	Enhancers	NHEK	skin
40	chr6:26348200-26351800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr6:26348400-26348600	Enhancers	Duodenum Mucosa	Duodenum
42	chr6:26348400-26350600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:26348600-26349000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:26348600-26349000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:26348600-26349000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:26348600-26349000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:26348600-26349000	Enhancers	HMEC	breast
48	chr6:26348600-26350200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:26348600-26354800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr6:26348800-26350400	Weak transcription	A549	lung

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