Variant report

Variant	nsv884740
Chromosome Location	chr6:32358513-32364190
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:9)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:32212479..32213374-chr6:32361354..32361920,2	MCF-7	breast:
2	chr6:32358023..32360400-chr6:32361196..32362901,2	K562	blood:
3	chr6:32363881..32366700-chr6:32368239..32370976,2	K562	blood:
4	chr6:32360881..32363601-chr6:32363763..32366001,3	MCF-7	breast:
5	chr6:32360990..32362711-chr6:32363289..32364863,2	K562	blood:
6	chr6:32360990..32362711-chr6:32363289..32364863,2	K562	blood:
7	chr6:32212577..32213569-chr6:32361133..32362153,5	MCF-7	breast:
8	chr6:32360881..32363601-chr6:32363763..32366001,3	MCF-7	breast:
9	chr6:32356860..32358519-chr6:32360443..32363333,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HLA-DRA-1	chr6:32361226-32361468	NONHSAT108902
2	lnc-HLA-DRA-1	chr6:32359390-32359517	NONHSAT108902
3	lnc-HLA-DRA-1	chr6:32361226-32361247	XLOC_005254
4	lnc-HLA-DRA-1	chr6:32360320-32361134	XLOC_005254
5	lnc-HLA-DRA-1	chr6:32358287-32358530	ENSG00000228962.1
6	lnc-HLA-DRA-1	chr6:32359390-32359517	ENSG00000228962.1
7	lnc-HLA-DRA-1	chr6:32358287-32358530	NONHSAT108902
8	lnc-HLA-DRA-1	chr6:32361226-32361463	ENSG00000228962.1

No data

Variant related genes	Relation type
ENSG00000228962	chromatin interactions
DKK2	miRNA target sites

Extended variants
information (count: 383 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3117098	chr6:32358513-32358514	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs551291976	chr6:32358526-32358527	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs563113343	chr6:32358528-32358529	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs17495592	chr6:32358533-32358534	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs9348883	chr6:32358549-32358550	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs117886263	chr6:32358666-32358667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3117097	chr6:32358689-32358690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546604525	chr6:32358704-32358705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567963592	chr6:32358727-32358728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62402741	chr6:32358728-32358729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12662906	chr6:32358797-32358798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149986549	chr6:32358802-32358803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72847903	chr6:32358834-32358835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140243223	chr6:32358840-32358841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs67019312	chr6:32358883-32358884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs117030612	chr6:32358900-32358901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573924756	chr6:32358927-32358928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs66568865	chr6:32358939-32358940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9268476	chr6:32358942-32358943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117680060	chr6:32358956-32358957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200237273	chr6:32359015-32359016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574073110	chr6:32359078-32359079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544575015	chr6:32359087-32359088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9268477	chr6:32359121-32359122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs191637688	chr6:32359131-32359132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1143257	chr6:32359133-32359134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560500519	chr6:32359145-32359146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs118171271	chr6:32359149-32359150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117177076	chr6:32359150-32359151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1143258	chr6:32359156-32359157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs62402742	chr6:32359163-32359164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs62402743	chr6:32359171-32359172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs370909783	chr6:32359172-32359173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs118094977	chr6:32359185-32359186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116854236	chr6:32359186-32359187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1143259	chr6:32359208-32359209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs117643912	chr6:32359210-32359211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386699305	chr6:32359227-32359228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1143261	chr6:32359230-32359231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183137024	chr6:32359240-32359241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113373443	chr6:32359241-32359242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571978771	chr6:32359244-32359245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201297895	chr6:32359264-32359265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570915703	chr6:32359267-32359268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201577992	chr6:32359268-32359269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117691618	chr6:32359300-32359301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116938180	chr6:32359331-32359332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62402754	chr6:32359389-32359390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375305881	chr6:32359400-32359401	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs201171972	chr6:32359409-32359410	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Lung cancer	18438408	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
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	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
Ovarian cancer	21781307	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	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
Acute lymphoblastic leukemia	22237106	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
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32344000-32361400	Weak transcription	Fetal Stomach	stomach
2	chr6:32351400-32365000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:32356000-32361400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr6:32356400-32364200	Weak transcription	Fetal Lung	lung
5	chr6:32356800-32360800	Weak transcription	Right Atrium	heart
6	chr6:32357200-32358600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:32358400-32360600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:32358400-32361400	Weak transcription	GM12878-XiMat	blood
9	chr6:32358600-32360400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:32359600-32361200	Weak transcription	Fetal Brain Male	brain
11	chr6:32360400-32361000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:32360400-32362000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:32360600-32361000	Enhancers	Left Ventricle	heart
14	chr6:32360600-32361000	Enhancers	NHEK	skin
15	chr6:32360600-32361200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:32360600-32361200	Enhancers	HUVEC	blood vessel
17	chr6:32360600-32362000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:32360800-32361000	Enhancers	Right Atrium	heart
19	chr6:32360800-32361000	Enhancers	Spleen	Spleen
20	chr6:32360800-32361200	Enhancers	Fetal Muscle Trunk	muscle
21	chr6:32360800-32361600	Enhancers	HMEC	breast
22	chr6:32360800-32362000	Enhancers	Fetal Muscle Leg	muscle
23	chr6:32360800-32362000	Enhancers	Hela-S3	cervix
24	chr6:32360800-32362800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr6:32360800-32362800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:32360800-32362800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:32360800-32362800	Enhancers	Esophagus	oesophagus
28	chr6:32361000-32361400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:32361000-32361800	Enhancers	Primary hematopoietic stem cells	blood
30	chr6:32361000-32362200	Flanking Active TSS	NHEK	skin
31	chr6:32361000-32370600	Weak transcription	Spleen	Spleen
32	chr6:32361200-32361400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr6:32361200-32361400	Enhancers	Fetal Kidney	kidney
34	chr6:32361200-32361400	Flanking Active TSS	HUVEC	blood vessel
35	chr6:32361200-32361600	Strong transcription	Fetal Brain Male	brain
36	chr6:32361200-32366000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr6:32361400-32361600	Enhancers	HUVEC	blood vessel
38	chr6:32361400-32361800	Enhancers	Primary B cells from peripheral blood	blood
39	chr6:32361400-32362000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:32361400-32362000	Enhancers	GM12878-XiMat	blood
41	chr6:32361400-32363000	Strong transcription	Fetal Stomach	stomach
42	chr6:32361400-32366800	Weak transcription	Fetal Kidney	kidney
43	chr6:32361600-32362000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:32361600-32362000	Flanking Active TSS	HMEC	breast
45	chr6:32361600-32362000	Flanking Active TSS	HUVEC	blood vessel
46	chr6:32361600-32366800	Weak transcription	Fetal Brain Male	brain
47	chr6:32361800-32364600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr6:32362000-32362400	Enhancers	HUVEC	blood vessel
49	chr6:32362000-32362800	Enhancers	HMEC	breast
50	chr6:32362000-32364200	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links