Variant report

Variant	nsv519516
Chromosome Location	chr6:11938672-11942371
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	chr6:11919166..11921796-chr6:11941953..11944553,2	K562	blood:
2	chr6:11934884..11941785-chr6:12006305..12013263,12	K562	blood:
3	chr6:11937603..11940541-chr6:11940588..11943697,3	K562	blood:
4	chr6:11935152..11937413-chr6:11941922..11944210,2	K562	blood:
5	chr6:11938325..11940429-chr6:12012405..12015176,2	K562	blood:
6	chr6:11937603..11940636-chr6:11941347..11943697,3	K562	blood:
7	chr6:11913765..11915487-chr6:11938555..11940311,2	K562	blood:
8	chr6:11930465..11936991-chr6:11937118..11940104,9	K562	blood:
9	chr6:11937603..11940541-chr6:11940588..11943697,3	K562	blood:
10	chr6:11942314..11946137-chr6:11947181..11949367,4	K562	blood:
11	chr6:11937988..11940263-chr6:11954946..11957643,2	K562	blood:
12	chr6:11940312..11942234-chr6:11949542..11951160,2	K562	blood:
13	chr6:11913987..11915505-chr6:11938167..11940311,2	K562	blood:
14	chr6:11938241..11940254-chr6:12007996..12010839,2	K562	blood:
15	chr6:11937603..11940636-chr6:11941347..11943697,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229896	chromatin interactions
ENSG00000095951	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs6904014	chr6:11938672-11938673	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149915002	chr6:11938686-11938687	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs563386255	chr6:11938730-11938731	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs187883107	chr6:11938732-11938733	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs169715	chr6:11938797-11938798	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11756601	chr6:11938805-11938806	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs528430695	chr6:11938821-11938822	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs144924574	chr6:11938835-11938836	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568410264	chr6:11938840-11938841	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs192658798	chr6:11938912-11938913	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557035320	chr6:11938914-11938915	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs13362603	chr6:11938933-11938934	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539521971	chr6:11938946-11938947	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs143737655	chr6:11938964-11938965	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs553163942	chr6:11938972-11938973	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs147206994	chr6:11939014-11939015	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs370958723	chr6:11939106-11939107	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184258000	chr6:11939109-11939110	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs556021384	chr6:11939116-11939117	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs148664610	chr6:11939143-11939144	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs543414570	chr6:11939153-11939154	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs543764816	chr6:11939180-11939181	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs77336149	chr6:11939210-11939211	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs368926412	chr6:11939259-11939260	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs139322728	chr6:11939260-11939261	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs576450164	chr6:11939281-11939282	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs58167079	chr6:11939283-11939284	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs209786	chr6:11939285-11939286	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545899350	chr6:11939328-11939329	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528945441	chr6:11939420-11939421	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs189565051	chr6:11939421-11939422	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs528292887	chr6:11939488-11939489	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs548230291	chr6:11939496-11939497	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs180949173	chr6:11939512-11939513	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs112469668	chr6:11939518-11939519	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs565501027	chr6:11939523-11939524	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs113830067	chr6:11939555-11939556	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs370082999	chr6:11939561-11939562	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs527616086	chr6:11939562-11939563	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs76964720	chr6:11939563-11939564	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs398065571	chr6:11939573-11939574	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs61655480	chr6:11939574-11939575	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs570476056	chr6:11939644-11939645	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs539576970	chr6:11939674-11939675	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs553025251	chr6:11939679-11939680	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs540438959	chr6:11939684-11939685	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs145535629	chr6:11939697-11939698	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs531392340	chr6:11939729-11939730	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs536036482	chr6:11939787-11939788	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs555639798	chr6:11939798-11939799	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
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
Myelodysplastic syndrome	21251322	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	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11937800-11940200	Weak transcription	Thymus	Thymus
2	chr6:11937800-11940600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr6:11938000-11939000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:11938000-11939200	Flanking Active TSS	K562	blood
5	chr6:11938200-11939200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr6:11938400-11938800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:11938400-11939000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:11938400-11939000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:11938400-11939000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:11938400-11939000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:11938400-11939000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:11938400-11939000	Enhancers	Brain Germinal Matrix	brain
13	chr6:11938400-11939000	Enhancers	Brain Hippocampus Middle	brain
14	chr6:11938400-11939000	Enhancers	NHLF	lung
15	chr6:11938400-11939200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:11938400-11939200	Enhancers	Liver	Liver
17	chr6:11938400-11939400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:11938600-11938800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:11938600-11938800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:11938600-11938800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:11938600-11938800	Flanking Active TSS	Fetal Kidney	kidney
22	chr6:11938600-11939000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr6:11938600-11939000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:11938600-11939000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:11938600-11939000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr6:11938600-11939000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:11938600-11939000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:11938600-11939000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:11938600-11939000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:11938600-11939000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:11938600-11939000	Enhancers	Adipose Nuclei	Adipose
32	chr6:11938600-11939000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr6:11938600-11939000	Flanking Active TSS	Fetal Intestine Large	intestine
34	chr6:11938600-11939000	Flanking Active TSS	Fetal Intestine Small	intestine
35	chr6:11938600-11939000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr6:11938600-11939000	Enhancers	Fetal Lung	lung
37	chr6:11938600-11939000	Enhancers	Ovary	ovary
38	chr6:11938600-11939000	Enhancers	Psoas Muscle	Psoas
39	chr6:11938600-11939000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr6:11938600-11939000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr6:11938600-11939000	Active TSS	Rectal Smooth Muscle	rectum
42	chr6:11938600-11939000	Flanking Active TSS	HUVEC	blood vessel
43	chr6:11938600-11939000	Flanking Active TSS	Osteobl	bone
44	chr6:11938600-11939200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:11938600-11939200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:11938600-11939200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:11938600-11939200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr6:11938600-11939200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:11938600-11939200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:11938600-11939200	Flanking Active TSS	Duodenum Mucosa	Duodenum

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