Variant report

Variant	nsv528962
Chromosome Location	chr6:33480435-33485241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33483395..33487072-chr6:33487166..33490449,4	MCF-7	breast:
2	chr6:33480361..33482958-chr6:33629089..33631311,2	K562	blood:
3	chr6:33393869..33396201-chr6:33479107..33481448,2	MCF-7	breast:
4	chr6:33422288..33424743-chr6:33478570..33480571,2	MCF-7	breast:
5	chr6:33479121..33484420-chr6:33487848..33490096,5	K562	blood:
6	chr6:33407586..33409275-chr6:33483578..33485423,2	K562	blood:

Variant related genes	Relation type
ENSG00000213588	chromatin interactions

Extended variants
information (count: 182 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs86715	chr6:33480435-33480436	Enhancers Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568073055	chr6:33480507-33480508	Enhancers Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372230368	chr6:33480632-33480633	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542664421	chr6:33480652-33480653	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535497373	chr6:33480689-33480690	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183559872	chr6:33480694-33480695	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs68191	chr6:33480738-33480739	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575303065	chr6:33480802-33480803	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148756959	chr6:33480869-33480870	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73402386	chr6:33480870-33480871	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188995872	chr6:33480886-33480887	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141411157	chr6:33480904-33480905	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368835081	chr6:33480906-33480907	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565666905	chr6:33480991-33480992	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562260816	chr6:33481027-33481028	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529392336	chr6:33481069-33481070	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544287150	chr6:33481193-33481194	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs210192	chr6:33481204-33481205	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs375826199	chr6:33481222-33481223	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150831460	chr6:33481245-33481246	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193037541	chr6:33481251-33481252	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182369	chr6:33481314-33481315	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528347209	chr6:33481334-33481335	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546481441	chr6:33481344-33481345	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145929888	chr6:33481393-33481394	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113675043	chr6:33481394-33481395	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568244257	chr6:33481399-33481400	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543420243	chr6:33481400-33481401	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184150224	chr6:33481401-33481402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9469443	chr6:33481402-33481403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575627794	chr6:33481405-33481406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201300841	chr6:33481409-33481410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199653151	chr6:33481410-33481411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557077513	chr6:33481430-33481431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533658160	chr6:33481438-33481439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139892788	chr6:33481452-33481453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9461864	chr6:33481469-33481470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs557703410	chr6:33481499-33481500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573459409	chr6:33481539-33481540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11970477	chr6:33481571-33481572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191328519	chr6:33481629-33481630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375101150	chr6:33481713-33481714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544327736	chr6:33481813-33481814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112277261	chr6:33481868-33481869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577681739	chr6:33481870-33481871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545081303	chr6:33481876-33481877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527798232	chr6:33481940-33481941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183943726	chr6:33481955-33481956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs210193	chr6:33481961-33481962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546865055	chr6:33481974-33481975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	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
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	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	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33474400-33481200	Weak transcription	Fetal Intestine Small	intestine
2	chr6:33477800-33480600	Weak transcription	GM12878-XiMat	blood
3	chr6:33479400-33480600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:33479800-33480600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr6:33479800-33480600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:33479800-33480600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr6:33479800-33480600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr6:33479800-33480600	Enhancers	Placenta	Placenta
9	chr6:33479800-33481000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:33479800-33481200	Enhancers	Fetal Thymus	thymus
11	chr6:33480000-33480600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:33480000-33480600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:33480000-33480600	Enhancers	Primary B cells from cord blood	blood
14	chr6:33480000-33480600	Enhancers	Primary T cells from cord blood	blood
15	chr6:33480000-33480600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:33480000-33480600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr6:33480000-33480600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr6:33480000-33480600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr6:33480000-33480600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr6:33480000-33480600	Enhancers	Pancreas	Pancrea
21	chr6:33480000-33480800	Enhancers	Thymus	Thymus
22	chr6:33480000-33481000	Enhancers	Spleen	Spleen
23	chr6:33480000-33481200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr6:33480200-33480600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:33480200-33480600	Bivalent Enhancer	K562	blood
26	chr6:33480200-33481400	Strong transcription	Right Atrium	heart
27	chr6:33480400-33480800	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr6:33480400-33481000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:33480400-33481400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr6:33480600-33481000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr6:33480600-33484800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:33480800-33481000	Enhancers	GM12878-XiMat	blood
33	chr6:33481000-33488000	Weak transcription	Spleen	Spleen
34	chr6:33481200-33481400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:33481400-33491200	Weak transcription	Right Atrium	heart
36	chr6:33483400-33483800	Enhancers	HSMMtube	muscle
37	chr6:33483600-33483800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:33484800-33485000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:33484800-33485400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:33485000-33485400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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