Variant report

Variant	nsv601183
Chromosome Location	chr6:26346175-26351325
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26346422..26348741-chr6:26456867..26458564,3	K562	blood:
2	chr1:17222072..17224236-chr6:26350716..26352236,2	K562	blood:
3	chr6:26350096..26351709-chr6:26521212..26523157,2	K562	blood:
4	chr6:26346737..26349010-chr6:26483438..26485200,2	K562	blood:
5	chr6:26345126..26347534-chr6:26601972..26604774,2	K562	blood:
6	chr6:26350529..26353058-chr6:26354416..26356563,2	K562	blood:
7	chr1:17221559..17223078-chr6:26350716..26352216,2	MCF-7	breast:
8	chr6:26351127..26352720-chr6:26382336..26385327,2	K562	blood:
9	chr6:26345080..26346941-chr6:26520838..26522730,2	K562	blood:
10	chr6:26345077..26347178-chr6:26389815..26392658,2	K562	blood:

No data

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

Extended variants
information (count: 192 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28478610	chr6:26346175-26346176	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs553756706	chr6:26346235-26346236	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148587847	chr6:26346244-26346245	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs573488926	chr6:26346253-26346254	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545441547	chr6:26346274-26346275	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546401959	chr6:26346278-26346279	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs562613981	chr6:26346315-26346316	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs576202808	chr6:26346359-26346360	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542470690	chr6:26346433-26346434	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs191250019	chr6:26346468-26346469	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs562250129	chr6:26346477-26346478	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs527846928	chr6:26346479-26346480	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs183795972	chr6:26346510-26346511	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs187682089	chr6:26346512-26346513	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs35932279	chr6:26346514-26346515	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114977226	chr6:26346546-26346547	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs372251713	chr6:26346600-26346601	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs569844410	chr6:26346633-26346634	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs79762570	chr6:26346666-26346667	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs141988787	chr6:26346671-26346672	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs9467716	chr6:26346675-26346676	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs550954255	chr6:26346693-26346694	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs146128030	chr6:26346716-26346717	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs140147612	chr6:26346818-26346819	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs570646597	chr6:26346838-26346839	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs564762391	chr6:26346857-26346858	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs143780187	chr6:26346867-26346868	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs79957247	chr6:26346881-26346882	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs371603261	chr6:26346886-26346887	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs370706029	chr6:26346937-26346938	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs375363311	chr6:26346942-26346943	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs530687324	chr6:26346955-26346956	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs146832245	chr6:26346960-26346961	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs139302845	chr6:26347119-26347120	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs541960651	chr6:26347123-26347124	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs376611279	chr6:26347179-26347180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555471845	chr6:26347201-26347202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192651556	chr6:26347202-26347203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2038045	chr6:26347216-26347217	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369953660	chr6:26347225-26347226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373025803	chr6:26347267-26347268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564837607	chr6:26347275-26347276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs149986367	chr6:26347290-26347291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543448605	chr6:26347426-26347427	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs563358803	chr6:26347442-26347443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs72836450	chr6:26347472-26347473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs72836452	chr6:26347567-26347568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566001395	chr6:26347614-26347615	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527521630	chr6:26347656-26347657	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149117075	chr6:26347721-26347722	Enhancers Weak transcription	Chromatin interactive region	1 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:92 , 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	chr6:26342600-26350200	Weak transcription	Hela-S3	cervix
3	chr6:26342800-26348000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:26342800-26349800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:26343000-26346400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:26343000-26350800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:26343200-26348600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:26343200-26352400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:26343400-26346200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:26343400-26347600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:26343400-26348000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:26344000-26348600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:26344200-26349000	Enhancers	K562	blood
14	chr6:26345000-26350400	Enhancers	HepG2	liver
15	chr6:26346000-26346800	Enhancers	A549	lung
16	chr6:26346200-26346800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:26346400-26346800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:26346800-26348000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:26346800-26348000	Weak transcription	A549	lung
20	chr6:26347600-26349000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:26347800-26348800	Enhancers	Fetal Intestine Small	intestine
22	chr6:26347800-26349000	Enhancers	Fetal Intestine Large	intestine
23	chr6:26348000-26348200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr6:26348000-26348200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:26348000-26348200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:26348000-26348200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:26348000-26348800	Enhancers	A549	lung
28	chr6:26348000-26349000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:26348000-26355600	Weak transcription	Fetal Thymus	thymus
30	chr6:26348200-26348400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr6:26348200-26348600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:26348200-26348800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr6:26348200-26349000	Enhancers	Stomach Mucosa	stomach
34	chr6:26348200-26349200	Enhancers	NHEK	skin
35	chr6:26348200-26351800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:26348400-26348600	Enhancers	Duodenum Mucosa	Duodenum
37	chr6:26348400-26350600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:26348600-26349000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:26348600-26349000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:26348600-26349000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:26348600-26349000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:26348600-26349000	Enhancers	HMEC	breast
43	chr6:26348600-26350200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:26348600-26354800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:26348800-26350400	Weak transcription	A549	lung
46	chr6:26348800-26354400	Weak transcription	Fetal Intestine Small	intestine
47	chr6:26349000-26350000	Weak transcription	K562	blood
48	chr6:26349000-26350400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr6:26349000-26351000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:26349000-26351000	Weak transcription	HMEC	breast

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