Variant report

Variant	nsv883543
Chromosome Location	chr6:29812030-29818092
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29815528..29816550-chr6:29935117..29936165,4	MCF-7	breast:
2	chr6:29815502..29816513-chr6:29980468..29982151,21	K562	blood:
3	chr6:29720902..29721504-chr6:29815550..29816084,2	K562	blood:
4	chr1:156186327..156187016-chr6:29817417..29817938,4	MCF-7	breast:
5	chr6:29815519..29816578-chr6:29980839..29982014,6	MCF-7	breast:
6	chr6:29815601..29816421-chr6:30004834..30005555,3	MCF-7	breast:
7	chr1:156186395..156187016-chr6:29817417..29817931,2	MCF-7	breast:
8	chr6:29815484..29816856-chr6:30098503..30099361,8	K562	blood:
9	chr6:29815548..29816170-chr6:30137547..30138377,2	K562	blood:
10	chr6:29815002..29816640-chr6:29980850..29981857,19	MCF-7	breast:
11	chr6:29815545..29816511-chr6:30004700..30005650,3	MCF-7	breast:
12	chr1:156186259..156187021-chr6:29817417..29817937,4	MCF-7	breast:
13	chr20:26189787..26191477-chr6:29817931..29819451,2	MCF-7	breast:
14	chr21:9826240..9826974-chr6:29817929..29818437,2	MCF-7	breast:
15	chr1:156186248..156187894-chr6:29816418..29817920,2	MCF-7	breast:
16	chr1:156186344..156186990-chr6:29817437..29817949,3	MCF-7	breast:
17	chr6:29814850..29816996-chr6:29980272..29982111,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227195	chromatin interactions
ENSG00000204610	chromatin interactions

Extended variants
information (count: 150 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2734989	chr6:29812643-29812644	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550618063	chr6:29812651-29812652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567124820	chr6:29812670-29812671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116248499	chr6:29812671-29812672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370349950	chr6:29812708-29812709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573090271	chr6:29812717-29812718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72843667	chr6:29812727-29812728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs190231759	chr6:29812737-29812738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2523768	chr6:29812750-29812751	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs72843668	chr6:29812769-29812770	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114887824	chr6:29812775-29812776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148758442	chr6:29812797-29812798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182450489	chr6:29812806-29812807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2523767	chr6:29812807-29812808	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs2523766	chr6:29812834-29812835	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs375025434	chr6:29812843-29812844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142424880	chr6:29812859-29812860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564942793	chr6:29812863-29812864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72843669	chr6:29812880-29812881	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs72843670	chr6:29812895-29812896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs114853934	chr6:29812896-29812897	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs151321530	chr6:29812912-29812913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376681633	chr6:29812919-29812920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368759353	chr6:29812938-29812939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57644190	chr6:29812956-29812957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs62392493	chr6:29812958-29812959	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs2517879	chr6:29812974-29812975	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs72843672	chr6:29813004-29813005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs9258555	chr6:29813016-29813017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs185911779	chr6:29813034-29813035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73747715	chr6:29813055-29813056	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566012824	chr6:29813062-29813063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376711796	chr6:29813065-29813066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72843675	chr6:29813067-29813068	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs140628837	chr6:29813093-29813094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553305770	chr6:29813106-29813107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573342720	chr6:29813113-29813114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188428002	chr6:29813164-29813165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576241838	chr6:29813165-29813166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565282448	chr6:29813166-29813167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184495221	chr6:29815549-29815550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs28993600	chr6:29815550-29815551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs3094179	chr6:29815571-29815572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112461612	chr6:29815576-29815577	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556579654	chr6:29815597-29815598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs28721723	chr6:29815607-29815608	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs73747723	chr6:29815609-29815610	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs374092457	chr6:29815636-29815637	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs3128912	chr6:29815637-29815638	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs28721736	chr6:29815638-29815639	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
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
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
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
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	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
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29812600-29813000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr6:29812800-29813200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr6:29812800-29813200	Enhancers	NHEK	skin
4	chr6:29815600-29815800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:29815600-29815800	Bivalent Enhancer	Brain Anterior Caudate	brain
6	chr6:29815600-29816000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr6:29815600-29816000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
8	chr6:29815600-29816200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
9	chr6:29815600-29816200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:29815600-29816200	Bivalent Enhancer	Brain Hippocampus Middle	brain
11	chr6:29815600-29816400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr6:29815800-29816000	Bivalent Enhancer	Colonic Mucosa	Colon
13	chr6:29815800-29816000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
14	chr6:29815800-29816200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
15	chr6:29815800-29816200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
16	chr6:29815800-29816200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
17	chr6:29815800-29816200	Bivalent Enhancer	Brain Substantia Nigra	brain
18	chr6:29815800-29817800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:29816000-29816200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr6:29816000-29816200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
21	chr6:29816000-29816200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:29816000-29816200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
23	chr6:29816000-29816200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:29816000-29816200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
25	chr6:29816000-29816200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
26	chr6:29816000-29816200	Bivalent Enhancer	Liver	Liver
27	chr6:29816000-29816200	Bivalent Enhancer	Brain Angular Gyrus	brain
28	chr6:29816000-29816200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
29	chr6:29816000-29816200	Enhancers	Esophagus	oesophagus
30	chr6:29816000-29816200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr6:29816000-29816200	Bivalent Enhancer	Fetal Intestine Small	intestine
32	chr6:29816000-29816200	Bivalent Enhancer	Placenta	Placenta
33	chr6:29816000-29816200	Enhancers	Gastric	stomach
34	chr6:29816000-29816200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
35	chr6:29816000-29816400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:29816000-29816400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
37	chr6:29816000-29816400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
38	chr6:29816200-29816400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr6:29816200-29816400	Bivalent Enhancer	Fetal Brain Male	brain
40	chr6:29816200-29816600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:29816200-29816600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:29816200-29817000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
43	chr6:29816200-29818000	Weak transcription	Gastric	stomach
44	chr6:29816600-29816800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
45	chr6:29816600-29818000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:29816800-29818000	Weak transcription	Esophagus	oesophagus
47	chr6:29817400-29817600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
48	chr6:29817400-29817600	Bivalent/Poised TSS	Right Ventricle	heart
49	chr6:29817400-29818000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr6:29817400-29818400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood

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