Variant report

Variant	nsv969293
Chromosome Location	chr6:30348821-30368580
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30360733..30362483-chr6:30523991..30525891,2	K562	blood:
2	chr6:30365835..30367993-chr6:30369387..30370931,2	K562	blood:
3	chr6:30325083..30325836-chr6:30364496..30366117,4	MCF-7	breast:
4	chr6:30364310..30365862-chr6:30386384..30388997,2	MCF-7	breast:
5	chr6:30364759..30366950-chr6:30511934..30514120,2	K562	blood:
6	chr6:30070557..30071542-chr6:30364602..30365386,4	K562	blood:
7	chr6:30069286..30070342-chr6:30364378..30364933,3	K562	blood:
8	chr6:30311806..30314300-chr6:30365522..30367404,2	MCF-7	breast:
9	chr6:30205903..30206430-chr6:30364660..30365198,2	MCF-7	breast:
10	chr6:30205760..30206880-chr6:30364359..30365320,6	K562	blood:
11	chr6:30344008..30344969-chr6:30364258..30365252,4	MCF-7	breast:
12	chr6:30312384..30314565-chr6:30347926..30349833,2	K562	blood:
13	chr6:30332081..30333027-chr6:30364533..30365885,7	MCF-7	breast:
14	chr6:30325016..30326378-chr6:30364305..30365879,10	K562	blood:
15	chr6:30269685..30271838-chr6:30361381..30363519,2	K562	blood:
16	chr6:30186670..30187594-chr6:30364355..30365372,7	K562	blood:
17	chr6:30325032..30326080-chr6:30364681..30365329,7	MCF-7	breast:
18	chr6:30186843..30187585-chr6:30364587..30365117,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000241370	chromatin interactions
ENSG00000204576	chromatin interactions
ENSG00000204590	chromatin interactions
ENSG00000236475	chromatin interactions

Extended variants
information (count: 410 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533962256	chr6:30348861-30348862	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs572281402	chr6:30348908-30348909	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138190304	chr6:30348954-30348955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570579000	chr6:30348994-30348995	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs72841305	chr6:30349040-30349041	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs371317591	chr6:30349083-30349084	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534489014	chr6:30349087-30349088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555996326	chr6:30349174-30349175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149594187	chr6:30349194-30349195	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144325347	chr6:30349197-30349198	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs3094623	chr6:30349201-30349202	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs373717184	chr6:30349220-30349221	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375853428	chr6:30349225-30349226	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182219916	chr6:30349235-30349236	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540538190	chr6:30349276-30349277	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560706212	chr6:30349282-30349283	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs9261700	chr6:30349294-30349295	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs140952429	chr6:30349297-30349298	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562881087	chr6:30349311-30349312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs143304700	chr6:30349326-30349327	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548638136	chr6:30349372-30349373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs3132621	chr6:30349382-30349383	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs527556296	chr6:30349383-30349384	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547381897	chr6:30349418-30349419	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577309759	chr6:30349419-30349420	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs61122953	chr6:30349466-30349467	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539297703	chr6:30349550-30349551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553329551	chr6:30349574-30349575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372797187	chr6:30349582-30349583	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572025359	chr6:30349591-30349592	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147547867	chr6:30349737-30349738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186349473	chr6:30349740-30349741	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535065452	chr6:30349779-30349780	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs554905260	chr6:30349789-30349790	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs571727289	chr6:30349803-30349804	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200933328	chr6:30349812-30349813	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542879280	chr6:30349813-30349814	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs548390625	chr6:30349814-30349815	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371483761	chr6:30359011-30359012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538415441	chr6:30359016-30359017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559840860	chr6:30359018-30359019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191836298	chr6:30359084-30359085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372166282	chr6:30359137-30359138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374724123	chr6:30359139-30359140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565158845	chr6:30359145-30359146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148465552	chr6:30359171-30359172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550671354	chr6:30359200-30359201	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs550479909	chr6:30359228-30359229	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs35102994	chr6:30359293-30359294	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530087930	chr6:30359311-30359312	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Ovarian cancer	21781307	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
Cancer	16790693	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
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30359000-30359400	Enhancers	H9 Cell Line	embryonic stem cell
2	chr6:30359000-30359400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:30359000-30359800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:30359000-30359800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:30359000-30359800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:30359200-30359600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr6:30359200-30359800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr6:30359200-30359800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:30359200-30359800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:30359800-30364600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:30362000-30362200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr6:30362000-30362200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:30363800-30364000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:30363800-30364800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
15	chr6:30363800-30364800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:30364000-30364200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:30364000-30365000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:30364000-30365200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr6:30364200-30364400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
20	chr6:30364200-30364600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:30364400-30364600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
22	chr6:30364400-30364600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:30364400-30364800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
24	chr6:30364400-30364800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
25	chr6:30364400-30364800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
26	chr6:30364400-30364800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr6:30364400-30365000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:30364400-30365000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr6:30364400-30365000	Bivalent Enhancer	Placenta	Placenta
30	chr6:30364400-30365000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
31	chr6:30364400-30365200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr6:30364400-30365200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:30364600-30364800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:30364600-30364800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:30364600-30364800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr6:30364600-30364800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
37	chr6:30364600-30364800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr6:30364600-30364800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr6:30364600-30364800	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr6:30364600-30364800	Bivalent Enhancer	Fetal Stomach	stomach
41	chr6:30364600-30364800	Bivalent Enhancer	Fetal Thymus	thymus
42	chr6:30364600-30364800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
43	chr6:30364600-30364800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr6:30364600-30364800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
45	chr6:30364600-30364800	Bivalent Enhancer	Thymus	Thymus
46	chr6:30364600-30364800	Bivalent Enhancer	HSMM	muscle
47	chr6:30364600-30365000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr6:30364600-30365000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:30364600-30365000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:30364600-30365000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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