Variant report

Variant	nsv883474
Chromosome Location	chr6:21312967-21337024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:20403168..20405515-chr6:21330909..21333657,2	K562	blood:
2	chr6:21332031..21332909-chr6:21589176..21589787,2	MCF-7	breast:
3	chr6:21313757..21315920-chr6:21316264..21318006,2	K562	blood:
4	chr6:21332425..21333075-chr6:21588923..21589622,2	MCF-7	breast:
5	chr6:21336228..21338674-chr6:21340550..21342231,2	K562	blood:
6	chr6:21313757..21315920-chr6:21316264..21318006,2	K562	blood:
7	chr2:55844241..55844973-chr6:21332465..21333118,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000112242	chromatin interactions
ENSG00000138041	chromatin interactions

Extended variants
information (count: 946 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:946 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1535604	chr6:21312967-21312968	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149847771	chr6:21312971-21312972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368456585	chr6:21312980-21312981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377690604	chr6:21313015-21313016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184065653	chr6:21313035-21313036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544514539	chr6:21313036-21313037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563630653	chr6:21313053-21313054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535346436	chr6:21313068-21313069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562112536	chr6:21313080-21313081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529665424	chr6:21313114-21313115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368298609	chr6:21313137-21313138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144687467	chr6:21313229-21313230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566477536	chr6:21313238-21313239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527470356	chr6:21313321-21313322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186500371	chr6:21313347-21313348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570628816	chr6:21313363-21313364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564990769	chr6:21313430-21313431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574499113	chr6:21313447-21313448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs386697826	chr6:21313490-21313491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9368295	chr6:21313491-21313492	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs117276599	chr6:21313499-21313500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555091732	chr6:21313562-21313563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116035907	chr6:21313590-21313591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34322817	chr6:21313642-21313643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs66732341	chr6:21313643-21313644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201533553	chr6:21313644-21313645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540725028	chr6:21313647-21313648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558845099	chr6:21313659-21313660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191245642	chr6:21313660-21313661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183793271	chr6:21313679-21313680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544477723	chr6:21313690-21313691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188458649	chr6:21313695-21313696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562873326	chr6:21313710-21313711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574075855	chr6:21313727-21313728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550565746	chr6:21313753-21313754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192979411	chr6:21313787-21313788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560188200	chr6:21313812-21313813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs719098	chr6:21313844-21313845	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371301111	chr6:21313870-21313871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552257863	chr6:21313882-21313883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139486837	chr6:21313892-21313893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531558423	chr6:21313923-21313924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550077769	chr6:21313929-21313930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs719097	chr6:21313949-21313950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144302710	chr6:21313959-21313960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146589113	chr6:21313997-21313998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548243989	chr6:21314017-21314018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566869953	chr6:21314029-21314030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185031788	chr6:21314051-21314052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146354291	chr6:21314075-21314076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
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	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
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
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian cancer	20844748	CNVD
Developmental delay	19490664	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:21309200-21314600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:21310400-21313000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:21310600-21313200	Weak transcription	Fetal Brain Male	brain
4	chr6:21311000-21313600	Weak transcription	Brain Germinal Matrix	brain
5	chr6:21312000-21314200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr6:21312200-21313000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:21312400-21314200	Enhancers	Fetal Brain Female	brain
8	chr6:21312600-21317600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:21313000-21313600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:21313000-21313600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:21313200-21314200	Enhancers	Fetal Brain Male	brain
12	chr6:21313600-21313800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:21313600-21313800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:21313600-21313800	Enhancers	Brain Germinal Matrix	brain
15	chr6:21313600-21314000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:21314200-21317600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:21314200-21331800	Weak transcription	Fetal Brain Male	brain
18	chr6:21317400-21317600	Weak transcription	Ovary	ovary
19	chr6:21317600-21317800	Enhancers	Ovary	ovary
20	chr6:21317600-21318000	Enhancers	Fetal Lung	lung
21	chr6:21317600-21318000	Bivalent Enhancer	HepG2	liver
22	chr6:21317600-21318200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:21317600-21318200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr6:21317800-21318200	Enhancers	Fetal Muscle Leg	muscle
25	chr6:21317800-21318200	Flanking Active TSS	Ovary	ovary
26	chr6:21317800-21318200	Enhancers	A549	lung
27	chr6:21318000-21318200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:21318000-21318200	Enhancers	Fetal Kidney	kidney
29	chr6:21318000-21318200	Flanking Bivalent TSS/Enh	HepG2	liver
30	chr6:21318200-21318400	Active TSS	Ovary	ovary
31	chr6:21318200-21318600	Bivalent Enhancer	HepG2	liver
32	chr6:21318200-21321200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:21318200-21321400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:21321200-21321600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:21321200-21321600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:21321200-21321600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:21321200-21322000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:21321200-21322000	Enhancers	Fetal Muscle Leg	muscle
39	chr6:21321400-21321600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:21321600-21321800	Enhancers	Gastric	stomach
41	chr6:21321600-21323800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:21322000-21323800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:21323600-21324000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:21323800-21324000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:21323800-21324200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:21323800-21324200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:21323800-21324200	Enhancers	Placenta	Placenta
48	chr6:21324200-21328400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:21324200-21328400	Weak transcription	Placenta	Placenta
50	chr6:21324400-21327600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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