Variant report

Variant	nsv435838
Chromosome Location	chr6:28507880-28514263
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28511658..28513836-chr6:28633626..28636236,2	K562	blood:
2	chr6:28367674..28369905-chr6:28510832..28512890,2	K562	blood:
3	chr6:28463594..28464468-chr6:28509984..28510682,3	MCF-7	breast:
4	chr6:28493448..28495135-chr6:28508813..28510667,2	K562	blood:
5	chr6:28439477..28442256-chr6:28509445..28511862,2	K562	blood:
6	chr6:28508315..28510538-chr6:28538499..28540306,2	K562	blood:
7	chr6:28508618..28512579-chr6:28580487..28584134,6	K562	blood:
8	chr6:28510407..28512273-chr6:28513492..28515889,2	K562	blood:
9	chr6:28509014..28511009-chr6:28516572..28518393,2	K562	blood:
10	chr6:28510133..28512590-chr6:28554507..28556682,2	MCF-7	breast:
11	chr6:28508469..28511332-chr6:28520528..28524271,3	K562	blood:
12	chr6:28499347..28503956-chr6:28505758..28508912,7	K562	blood:
13	chr6:28508365..28512579-chr6:28582414..28584502,4	K562	blood:
14	chr6:28507775..28510636-chr6:28641558..28643450,2	K562	blood:
15	chr6:28511881..28516576-chr6:28517392..28521415,6	K562	blood:
16	chr6:28508020..28511004-chr6:28575052..28576613,2	K562	blood:
17	chr6:28510237..28512040-chr6:28576892..28578404,2	K562	blood:
18	chr6:28508033..28510404-chr6:28569688..28571958,2	K562	blood:
19	chr6:28475480..28477562-chr6:28509551..28511332,2	K562	blood:
20	chr6:28511955..28518467-chr6:28519043..28523058,10	K562	blood:
21	chr6:28510407..28512273-chr6:28513492..28515889,2	K562	blood:
22	chr6:28508074..28513880-chr6:28531341..28537609,9	K562	blood:
23	chr6:28509624..28513880-chr6:28531310..28536044,4	K562	blood:
24	chr6:28510221..28512274-chr6:28527181..28528821,2	K562	blood:
25	chr6:28364273..28366438-chr6:28510597..28512229,2	K562	blood:
26	chr6:28361357..28362258-chr6:28510286..28511051,2	MCF-7	breast:
27	chr6:28470071..28472229-chr6:28510465..28513041,2	K562	blood:
28	chr6:28317772..28319708-chr6:28509467..28511768,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224586	chromatin interactions
ENSG00000246350	chromatin interactions
ENSG00000232040	chromatin interactions

Extended variants
information (count: 203 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545141655	chr6:28507892-28507893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9468387	chr6:28507987-28507988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs399558	chr6:28507991-28507992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376185029	chr6:28508003-28508004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543493245	chr6:28508020-28508021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143061817	chr6:28508025-28508026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116756717	chr6:28508095-28508096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549120739	chr6:28508229-28508230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562426187	chr6:28508241-28508242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529512560	chr6:28508274-28508275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180962949	chr6:28508361-28508362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370549752	chr6:28508373-28508374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140252190	chr6:28508430-28508431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552092677	chr6:28508437-28508438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114796104	chr6:28508449-28508450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115726954	chr6:28508468-28508469	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550666949	chr6:28508475-28508476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150349816	chr6:28508509-28508510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536202627	chr6:28508528-28508529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532952243	chr6:28508581-28508582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187163616	chr6:28508593-28508594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs192456154	chr6:28508600-28508601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538546340	chr6:28508632-28508633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs73742927	chr6:28508652-28508653	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs138154434	chr6:28508803-28508804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544020698	chr6:28508822-28508823	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs182160503	chr6:28508850-28508851	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs143711876	chr6:28508959-28508960	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs186776213	chr6:28508961-28508962	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs559480401	chr6:28508979-28508980	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs548879951	chr6:28508980-28508981	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs528522666	chr6:28508982-28508983	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs545356294	chr6:28509049-28509050	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs565599938	chr6:28509054-28509055	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs531091547	chr6:28509061-28509062	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs551205781	chr6:28509062-28509063	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs536546639	chr6:28509081-28509082	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs567554918	chr6:28509086-28509087	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs113749105	chr6:28509114-28509115	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs554482293	chr6:28509172-28509173	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs546712896	chr6:28509173-28509174	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs375660245	chr6:28509195-28509196	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs35115913	chr6:28509208-28509209	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs566326942	chr6:28509320-28509321	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs182408123	chr6:28509354-28509355	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs373275267	chr6:28509355-28509356	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs537710210	chr6:28509371-28509372	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs556415031	chr6:28509372-28509373	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs187151524	chr6:28509414-28509415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs147225690	chr6:28509484-28509485	Weak transcription Enhancers	Chromatin interactive region	2 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
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
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

Chromatin state (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28504000-28509800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:28505200-28510200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:28506000-28510000	Weak transcription	Placenta	Placenta
4	chr6:28506000-28510200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:28506200-28509200	Weak transcription	K562	blood
6	chr6:28506400-28510200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:28509200-28509800	Enhancers	K562	blood
8	chr6:28509600-28512800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr6:28509800-28510000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:28509800-28510000	Flanking Active TSS	K562	blood
11	chr6:28509800-28510400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:28509800-28511800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:28509800-28512200	Active TSS	A549	lung
14	chr6:28509800-28512600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:28509800-28512600	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr6:28509800-28512600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr6:28509800-28512600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr6:28509800-28512800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:28509800-28512800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr6:28509800-28512800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr6:28510000-28510200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:28510000-28510200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:28510000-28510200	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr6:28510000-28510200	Flanking Active TSS	GM12878-XiMat	blood
25	chr6:28510000-28510200	Enhancers	HepG2	liver
26	chr6:28510000-28510200	Flanking Active TSS	HMEC	breast
27	chr6:28510000-28510200	Active TSS	K562	blood
28	chr6:28510000-28510400	Flanking Active TSS	NHEK	skin
29	chr6:28510000-28510600	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr6:28510000-28510600	Active TSS	Fetal Stomach	stomach
31	chr6:28510000-28510800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:28510000-28511000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr6:28510000-28511000	Active TSS	Placenta	Placenta
34	chr6:28510000-28511200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:28510000-28512000	Active TSS	Fetal Intestine Small	intestine
36	chr6:28510000-28512200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr6:28510000-28512200	Active TSS	Fetal Intestine Large	intestine
38	chr6:28510000-28512400	Active TSS	H9 Cell Line	embryonic stem cell
39	chr6:28510000-28512400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:28510000-28512400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:28510000-28512400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:28510000-28512600	Active TSS	Fetal Kidney	kidney
43	chr6:28510000-28512800	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr6:28510200-28510400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:28510200-28510400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr6:28510200-28510400	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
47	chr6:28510200-28510400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr6:28510200-28510400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr6:28510200-28510400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:28510200-28510400	Enhancers	Primary T helper cells fromperipheralblood	blood

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