Variant report

Variant	nsv823459
Chromosome Location	chr6:25893906-25905563
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:25888880..25890642-chr6:25894444..25897441,2	MCF-7	breast:
2	chr6:25898939..25901573-chr6:25907220..25909750,2	K562	blood:
3	chr6:25897592..25899356-chr6:26027381..26030147,2	K562	blood:
4	chr6:25899487..25901860-chr6:25910075..25912188,3	K562	blood:
5	chr6:25898784..25900330-chr6:25902433..25903999,2	K562	blood:
6	chr6:25898784..25900330-chr6:25902433..25903999,2	K562	blood:
7	chr6:25903958..25905764-chr6:26024857..26026815,2	K562	blood:
8	chr6:25858972..25860782-chr6:25894429..25896826,2	K562	blood:
9	chr6:25902877..25904563-chr6:25909751..25912391,2	K562	blood:
10	chr6:25889678..25892007-chr6:25897921..25900598,2	K562	blood:
11	chr6:25892405..25894426-chr6:25992573..25994348,2	MCF-7	breast:
12	chr6:25897592..25901852-chr6:26026680..26030378,5	K562	blood:
13	chr6:25896550..25898969-chr6:25990767..25993592,2	MCF-7	breast:
14	chr6:25751340..25754236-chr6:25902948..25905113,2	K562	blood:
15	chr6:25903749..25906848-chr6:26123027..26124839,3	K562	blood:
16	chr6:25894658..25897194-chr6:25908960..25911635,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272065	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000272462	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000124529	chromatin interactions

Extended variants
information (count: 314 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557862180	chr6:25893917-25893918	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs377088177	chr6:25893926-25893927	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369740018	chr6:25893950-25893951	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs1165173	chr6:25893986-25893987	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552047308	chr6:25893999-25894000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186257932	chr6:25894008-25894009	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs478322	chr6:25894051-25894052	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs478349	chr6:25894057-25894058	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs370162488	chr6:25894084-25894085	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376931956	chr6:25894120-25894121	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536311576	chr6:25894218-25894219	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553057719	chr6:25894255-25894256	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571859185	chr6:25894280-25894281	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540911555	chr6:25894322-25894323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs141527846	chr6:25894341-25894342	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368938548	chr6:25894343-25894344	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376924382	chr6:25896658-25896659	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs566714342	chr6:25896677-25896678	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs183385570	chr6:25896736-25896737	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs576233336	chr6:25896737-25896738	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs552388038	chr6:25896741-25896742	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs368527292	chr6:25896742-25896743	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs78588777	chr6:25896771-25896772	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs564939965	chr6:25896873-25896874	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs13220488	chr6:25896907-25896908	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs567490329	chr6:25896916-25896917	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs536515162	chr6:25897004-25897005	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs553239391	chr6:25897028-25897029	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs572701435	chr6:25897109-25897110	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs117369893	chr6:25897120-25897121	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs558357320	chr6:25897138-25897139	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs186948689	chr6:25897141-25897142	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs736088	chr6:25897169-25897170	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192263266	chr6:25897175-25897176	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs561114535	chr6:25897187-25897188	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs574703317	chr6:25897315-25897316	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs540525004	chr6:25897396-25897397	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs560889673	chr6:25897406-25897407	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs532392607	chr6:25897428-25897429	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs368250902	chr6:25897446-25897447	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs559834900	chr6:25897481-25897482	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs552575984	chr6:25897483-25897484	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs139007037	chr6:25897492-25897493	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs60262167	chr6:25897501-25897502	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184330583	chr6:25897561-25897562	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs72830103	chr6:25897618-25897619	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188767425	chr6:25897658-25897659	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs112416195	chr6:25897669-25897670	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs546573167	chr6:25897697-25897698	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs371910671	chr6:25897723-25897724	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25898400-25899200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:25898400-25899400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr6:25898400-25899400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:25898400-25899400	Enhancers	HepG2	liver
5	chr6:25898400-25900400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:25898400-25900600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:25898400-25900600	Enhancers	Fetal Intestine Large	intestine
8	chr6:25898600-25900600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:25898600-25900600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:25898600-25900800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:25898600-25900800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:25898600-25910800	Enhancers	Liver	Liver
13	chr6:25898800-25899000	Enhancers	Pancreas	Pancrea
14	chr6:25898800-25899200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:25898800-25899200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:25898800-25899400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:25898800-25899400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:25898800-25899400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:25898800-25900000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:25898800-25900400	Enhancers	Fetal Intestine Small	intestine
21	chr6:25898800-25900600	Enhancers	A549	lung
22	chr6:25899000-25899200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr6:25899000-25900000	Weak transcription	Pancreas	Pancrea
24	chr6:25899000-25900400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:25899000-25900400	Enhancers	Fetal Kidney	kidney
26	chr6:25899000-25900800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr6:25899200-25899400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr6:25899400-25899600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr6:25899400-25899800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:25899400-25899800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:25899400-25899800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:25899400-25899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:25899400-25900000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:25899400-25900800	Flanking Active TSS	HepG2	liver
35	chr6:25899600-25900000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr6:25899600-25900800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:25899800-25900000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr6:25899800-25900400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr6:25899800-25900400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:25899800-25900400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr6:25899800-25900400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:25899800-25900600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:25900000-25900200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:25900000-25900400	Enhancers	Pancreas	Pancrea
45	chr6:25900000-25900600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr6:25900400-25901200	Weak transcription	Fetal Intestine Small	intestine
47	chr6:25900800-25902400	Enhancers	HepG2	liver
48	chr6:25901200-25901400	Enhancers	Fetal Intestine Small	intestine
49	chr6:25901400-25904000	Weak transcription	Fetal Intestine Small	intestine
50	chr6:25902200-25903200	Enhancers	Primary B cells from peripheral blood	blood

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