Variant report

Variant	nsv883466
Chromosome Location	chr6:20231272-20265965
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:20257163..20259345-chr6:20402768..20405752,2	K562	blood:
2	chr6:20238553..20240582-chr6:20241959..20245472,3	K562	blood:
3	chr6:20243580..20245382-chr6:20252186..20254509,2	K562	blood:
4	chr6:20210967..20214150-chr6:20231659..20234377,3	MCF-7	breast:
5	chr6:20235276..20236928-chr6:20238646..20240151,2	MCF-7	breast:
6	chr6:20233971..20236766-chr6:20402526..20404050,2	MCF-7	breast:
7	chr6:20249185..20251861-chr6:20402342..20404972,2	K562	blood:
8	chr6:20250718..20252698-chr6:20267503..20269386,2	K562	blood:
9	chr6:20233889..20236800-chr6:20238338..20241700,4	K562	blood:
10	chr6:20251621..20254415-chr6:20273233..20274861,2	K562	blood:
11	chr6:20230061..20232198-chr6:20234155..20236953,3	K562	blood:
12	chr6:20250098..20251839-chr6:20259482..20261565,2	K562	blood:
13	chr6:20257438..20259509-chr6:20267766..20269754,2	K562	blood:
14	chr6:20245847..20248461-chr6:20255988..20257835,2	K562	blood:
15	chr6:20254298..20256549-chr6:20402064..20404625,3	K562	blood:
16	chr6:20261956..20264723-chr6:20403059..20405477,2	K562	blood:
17	chr6:20243580..20245382-chr6:20252186..20254509,2	K562	blood:
18	chr6:20209069..20211986-chr6:20231381..20233005,2	K562	blood:
19	chr6:20250024..20251861-chr6:20400909..20403842,3	K562	blood:
20	chr6:20245847..20248461-chr6:20255988..20257835,2	K562	blood:
21	chr6:20249102..20251350-chr6:20252406..20254618,3	K562	blood:
22	chr6:20212542..20214233-chr6:20238029..20240822,2	MCF-7	breast:
23	chr6:20233889..20236800-chr6:20238338..20241700,4	K562	blood:
24	chr6:20235276..20236928-chr6:20238646..20240151,2	MCF-7	breast:
25	chr6:20238553..20240582-chr6:20241959..20245472,3	K562	blood:
26	chr6:20229285..20232940-chr6:20236537..20239101,3	K562	blood:
27	chr6:20255614..20258588-chr6:20259384..20261852,2	MCF-7	breast:
28	chr6:20255614..20258588-chr6:20259384..20261852,2	MCF-7	breast:
29	chr6:20227262..20229694-chr6:20256912..20259182,2	K562	blood:
30	chr6:20261108..20263456-chr6:20402736..20405477,2	K562	blood:
31	chr6:20262313..20265540-chr6:20266921..20270828,3	K562	blood:
32	chr6:20250098..20251839-chr6:20259482..20261565,2	K562	blood:
33	chr6:20229285..20232940-chr6:20236537..20239101,3	K562	blood:
34	chr6:20211929..20216104-chr6:20227975..20231920,3	K562	blood:
35	chr6:20249102..20251350-chr6:20252406..20254618,3	K562	blood:
36	chr6:20230061..20232198-chr6:20234155..20236953,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227803	chromatin interactions
ENSG00000112242	chromatin interactions
ENSG00000172197	chromatin interactions

Extended variants
information (count: 1695 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1695 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9465660	chr6:20231272-20231273	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554573695	chr6:20231320-20231321	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs9460470	chr6:20231516-20231517	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540055400	chr6:20231548-20231549	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs564774148	chr6:20231551-20231552	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs75510925	chr6:20231633-20231634	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs577799632	chr6:20231647-20231648	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs543942004	chr6:20231666-20231667	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs149944211	chr6:20231713-20231714	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs529658457	chr6:20231719-20231720	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs548834500	chr6:20231764-20231765	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs567067352	chr6:20231771-20231772	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs145083925	chr6:20231822-20231823	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs186142500	chr6:20231824-20231825	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs571104989	chr6:20231851-20231852	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs538334454	chr6:20231867-20231868	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs372420610	chr6:20231901-20231902	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs556391251	chr6:20231926-20231927	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534285680	chr6:20231929-20231930	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs115939967	chr6:20231964-20231965	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs555801796	chr6:20232131-20232132	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs543935144	chr6:20232134-20232135	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs111596230	chr6:20232158-20232159	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs141074747	chr6:20232160-20232161	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs540165951	chr6:20232176-20232177	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs371467497	chr6:20232179-20232180	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs558319844	chr6:20232195-20232196	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs578172705	chr6:20232204-20232205	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs576634543	chr6:20232222-20232223	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs9465661	chr6:20232249-20232250	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs370283144	chr6:20232255-20232256	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs9358313	chr6:20232256-20232257	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs9368159	chr6:20232257-20232258	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs200627767	chr6:20232269-20232270	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs61635370	chr6:20232271-20232272	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs9368160	chr6:20232272-20232273	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs60033983	chr6:20232274-20232275	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs59247883	chr6:20232276-20232277	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs373113735	chr6:20232285-20232286	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs376293108	chr6:20232286-20232287	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs61597645	chr6:20232287-20232288	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs12198990	chr6:20232301-20232302	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs370415455	chr6:20232302-20232303	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs563627057	chr6:20232303-20232304	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs529341816	chr6:20232304-20232305	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs564904538	chr6:20232311-20232312	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs549120399	chr6:20232319-20232320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs576981211	chr6:20232320-20232321	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs562463282	chr6:20232321-20232322	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs529657564	chr6:20232330-20232331	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:20222200-20233400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:20230400-20231800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:20230400-20236600	Weak transcription	Stomach Mucosa	stomach
4	chr6:20231200-20231600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr6:20231600-20236400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:20231800-20232000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:20233400-20234000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:20234000-20238600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:20234600-20235400	Enhancers	K562	blood
10	chr6:20236200-20238800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:20236400-20237000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:20236400-20237200	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:20236400-20238200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr6:20236400-20238600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr6:20236400-20239000	Enhancers	Fetal Intestine Large	intestine
16	chr6:20236400-20239000	Enhancers	Fetal Intestine Small	intestine
17	chr6:20236400-20239800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr6:20236600-20237000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:20236600-20238600	Enhancers	Primary T cells from cord blood	blood
20	chr6:20236600-20238800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr6:20236600-20239000	Enhancers	Stomach Mucosa	stomach
22	chr6:20236800-20237400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:20236800-20238000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:20236800-20239000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:20236800-20239200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr6:20237000-20237400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:20237000-20237600	Enhancers	HepG2	liver
28	chr6:20237000-20238400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:20237000-20238400	Enhancers	HMEC	breast
30	chr6:20237000-20238400	Enhancers	NHEK	skin
31	chr6:20237000-20238600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:20237000-20238600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr6:20237200-20237400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr6:20237200-20238600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:20237200-20238600	Enhancers	Hela-S3	cervix
36	chr6:20237200-20238800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr6:20237200-20239200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr6:20237400-20237800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:20237400-20237800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:20237400-20238400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr6:20237800-20238400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr6:20237800-20238600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:20237800-20238600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:20237800-20238800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr6:20237800-20239600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:20238000-20239000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr6:20238200-20238800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr6:20238200-20238800	Enhancers	Gastric	stomach
49	chr6:20238200-20239200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr6:20238400-20238800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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