Variant report

Variant	nsv981111
Chromosome Location	chr6:25023198-25024891
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:25024597-25024634	GM20000	blood:	n/a	n/a
2	MAFK	chr6:25023733-25023823	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:25023613-25023615	MCF-7	breast:	n/a	n/a
4	POLR2A	chr6:25023938-25023955	MCF-7	breast:	n/a	n/a
5	POLR2A	chr6:25023957-25023958	MCF-7	breast:	n/a	n/a
6	POLR2A	chr6:25023620-25023781	MCF-7	breast:	n/a	n/a
7	POLR2A	chr6:25023959-25023983	MCF-7	breast:	n/a	n/a
8	POLR2A	chr6:25023783-25023794	Gliobla	brain:	n/a	n/a
9	POLR2A	chr6:25024173-25024259	Gliobla	brain:	n/a	n/a
10	POLR2A	chr6:25024408-25024593	MCF-7	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:25024044-25024094	AG10803	skin:	n/a
2	chr6:25024044-25024094	HL-60	blood:	n/a
3	chr6:25024044-25024094	BJ	skin:	n/a
4	chr6:25024204-25024254	Caco-2	colon:	n/a
5	chr6:25024044-25024094	HNPCEpiC	eye:	n/a
6	chr6:25024340-25024390	HUVEC	blood vessel:	n/a
7	chr6:25024044-25024094	BE2_C	brain:	n/a
8	chr6:25024204-25024254	HL-60	blood:	n/a
9	chr6:25024204-25024254	CMK	blood:	n/a
10	chr6:25024340-25024390	AG04449	skin:	fetal
11	chr6:25024340-25024390	GM19239	blood:	n/a
12	chr6:25024340-25024390	AG10803	skin:	n/a
13	chr6:25024340-25024390	T-47D	breast:	n/a
14	chr6:25024044-25024094	GM12878	blood:	n/a
15	chr6:25024340-25024390	RPTEC	kidney:	n/a
16	chr6:25024204-25024254	PrEC	prostate:	n/a
17	chr6:25024204-25024254	U87	brain:	n/a
18	chr6:25024340-25024390	SKMC	muscle:	n/a
19	chr6:25024044-25024094	HCPEpiC	choroid plexus:	n/a
20	chr6:25024204-25024254	AG09309	skin:	n/a
21	chr6:25024044-25024094	HCF	heart:	n/a
22	chr6:25024340-25024390	HIPEpiC	eye:	n/a
23	chr6:25024044-25024094	AG04449	skin:	fetal
24	chr6:25024204-25024254	NH-A	brain:	n/a
25	chr6:25024340-25024390	HRPEpiC	eye:	n/a
26	chr6:25024204-25024254	HPAEpiC	pulmonary alveolar:	n/a
27	chr6:25024204-25024254	H1-hESC	embryonic stem cell:	embryo
28	chr6:25024204-25024254	HAEpiC	amniotic membrane:	n/a
29	chr6:25024044-25024094	AG09309	skin:	n/a
30	chr6:25024340-25024390	HRCEpiC	kidney:	n/a
31	chr6:25024340-25024390	CMK	blood:	n/a
32	chr6:25024044-25024094	AG04450	lung:	fetal
33	chr6:25024204-25024254	SK-N-SH	brain:	n/a
34	chr6:25024044-25024094	HRE	kidney:	n/a
35	chr6:25024044-25024094	SK-N-SH_RA	brain:	n/a
36	chr6:25024044-25024094	NHBE	bronchial:	n/a
37	chr6:25024044-25024094	GM06990	blood:	n/a
38	chr6:25024340-25024390	ProgFib	skin:	n/a
39	chr6:25024044-25024094	MCF-7	breast:	n/a
40	chr6:25024340-25024390	Hepatocyte	liver:	n/a
41	chr6:25024204-25024254	LNCaP	prostate:	n/a
42	chr6:25024340-25024390	HNPCEpiC	eye:	n/a
43	chr6:25024340-25024390	HepG2	liver:	n/a
44	chr6:25024204-25024254	NT2-D1	testis:	n/a
45	chr6:25024044-25024094	PrEC	prostate:	n/a
46	chr6:25024340-25024390	AG04450	lung:	fetal
47	chr6:25024044-25024094	NT2-D1	testis:	n/a
48	chr6:25024044-25024094	HIPEpiC	eye:	n/a
49	chr6:25024340-25024390	NH-A	brain:	n/a
50	chr6:25024204-25024254	SK-N-SH_RA	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:25024268..25027647-chr6:25028842..25032564,4	K562	blood:
2	chr6:25023746..25026604-chr6:25028842..25032564,3	K562	blood:

No data

Variant related genes	Relation type
ASS1P1	TF binding region
ASS1P1	CpG island
ENSG00000244618	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528920288	chr6:25023198-25023199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144068251	chr6:25023204-25023205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138375137	chr6:25023219-25023220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552021316	chr6:25023225-25023226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78281301	chr6:25023226-25023227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9393607	chr6:25023253-25023254	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566013068	chr6:25023259-25023260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9348655	chr6:25023263-25023264	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181297095	chr6:25023307-25023308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186306213	chr6:25023308-25023309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191288487	chr6:25023310-25023311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535281440	chr6:25023326-25023327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181809833	chr6:25023331-25023332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567542300	chr6:25023369-25023370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186782451	chr6:25023412-25023413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9348656	chr6:25023474-25023475	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9348657	chr6:25023500-25023501	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs150429701	chr6:25023533-25023534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559214903	chr6:25023564-25023565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575940670	chr6:25023565-25023566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117073191	chr6:25023608-25023609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368264875	chr6:25023615-25023616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372229215	chr6:25023664-25023665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191077494	chr6:25023694-25023695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375290779	chr6:25023706-25023707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73729597	chr6:25023717-25023718	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs528402796	chr6:25023727-25023728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551133533	chr6:25023733-25023734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571092633	chr6:25023782-25023783	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs528492337	chr6:25023786-25023787	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557295079	chr6:25023792-25023793	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs116156936	chr6:25023798-25023799	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550657230	chr6:25023811-25023812	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537334994	chr6:25023814-25023815	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9379706	chr6:25023829-25023830	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536209246	chr6:25023854-25023855	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186964188	chr6:25023863-25023864	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567023130	chr6:25023886-25023887	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539315028	chr6:25023905-25023906	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559328777	chr6:25023906-25023907	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576730529	chr6:25023914-25023915	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs116527380	chr6:25023916-25023917	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556735076	chr6:25023944-25023945	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs9358823	chr6:25023966-25023967	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs138127391	chr6:25023974-25023975	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559323110	chr6:25024003-25024004	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs9356953	chr6:25024004-25024005	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534882017	chr6:25024045-25024046	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs189749863	chr6:25024055-25024056	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149566612	chr6:25024059-25024060	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
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
Osteosarcoma	16790693	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
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
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25011200-25023400	Weak transcription	Thymus	Thymus
2	chr6:25011200-25035600	Weak transcription	Spleen	Spleen
3	chr6:25015600-25023600	Weak transcription	Fetal Thymus	thymus
4	chr6:25015800-25023800	Weak transcription	Dnd41	blood
5	chr6:25015800-25027000	Weak transcription	Esophagus	oesophagus
6	chr6:25017000-25023800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:25018200-25023200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:25018200-25023400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:25018200-25023600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:25018200-25023600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:25018200-25025000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:25018200-25027400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:25018400-25023600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:25018400-25023600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:25018400-25024600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:25018400-25025000	Weak transcription	Primary T cells from cord blood	blood
17	chr6:25018400-25025000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:25018400-25025600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:25018600-25023600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:25018600-25024000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:25018600-25024800	Weak transcription	HMEC	breast
22	chr6:25018600-25025000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:25018600-25026000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:25019200-25023400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:25022800-25024800	Weak transcription	NHEK	skin
26	chr6:25022800-25025200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr6:25023000-25024600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:25023000-25024600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:25023200-25024600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr6:25023400-25024600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:25023400-25024600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:25023400-25025000	Strong transcription	Thymus	Thymus
33	chr6:25023600-25024200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:25023600-25024600	Strong transcription	Primary hematopoietic stem cells	blood
35	chr6:25023600-25024600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:25023600-25024600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:25023600-25025000	Strong transcription	Fetal Thymus	thymus
38	chr6:25023600-25025200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:25023800-25024600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:25023800-25025400	Strong transcription	Dnd41	blood
41	chr6:25024000-25024600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr6:25024200-25024600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr6:25024200-25024800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:25024200-25027000	Weak transcription	Small Intestine	intestine
45	chr6:25024600-25024800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:25024600-25024800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:25024600-25025000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr6:25024600-25025200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:25024600-25025400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr6:25024600-25025400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links