Variant report

Variant	nsv981130
Chromosome Location	chr6:32292670-32294261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:366)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:32293462-32293517	GM13976	blood:	n/a	n/a
2	CTCF	chr6:32293320-32293470	GM12869	blood:	n/a	n/a
3	HEY1	chr6:32292965-32293181	K562	blood:	n/a	n/a
4	POLR2A	chr6:32292966-32293144	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr6:32293655-32293718	Gliobla	brain:	n/a	n/a
6	POLR2A	chr6:32292972-32293138	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:32292962-32293142	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr6:32292993-32293119	H1-hESC	embryonic stem cell:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:32294260-32294310	HepG2	liver:	n/a
2	chr6:32293411-32293461	Caco-2	colon:	n/a
3	chr6:32293578-32293628	GM12892	blood:	n/a
4	chr6:32293117-32293167	Hela-S3	cervix:	n/a
5	chr6:32293117-32293167	HRCEpiC	kidney:	n/a
6	chr6:32293578-32293628	T-47D	breast:	n/a
7	chr6:32293578-32293628	HepG2	liver:	n/a
8	chr6:32294260-32294310	GM12878	blood:	n/a
9	chr6:32293207-32293257	AG10803	skin:	n/a
10	chr6:32294260-32294310	A549	lung:	n/a
11	chr6:32292992-32293042	HRPEpiC	eye:	n/a
12	chr6:32293578-32293628	GM06990	blood:	n/a
13	chr6:32294260-32294310	BJ	skin:	n/a
14	chr6:32293117-32293167	HCPEpiC	choroid plexus:	n/a
15	chr6:32293411-32293461	Hepatocyte	liver:	n/a
16	chr6:32294260-32294310	RPTEC	kidney:	n/a
17	chr6:32293207-32293257	HIPEpiC	eye:	n/a
18	chr6:32293117-32293167	MCF10A-Er-Src	breast:	n/a
19	chr6:32293117-32293167	PrEC	prostate:	n/a
20	chr6:32294260-32294310	SAEC	small airway:	n/a
21	chr6:32292992-32293042	CMK	blood:	n/a
22	chr6:32293578-32293628	CMK	blood:	n/a
23	chr6:32293578-32293628	NH-A	brain:	n/a
24	chr6:32293117-32293167	SKMC	muscle:	n/a
25	chr6:32293411-32293461	SAEC	small airway:	n/a
26	chr6:32293117-32293167	SK-N-SH_RA	brain:	n/a
27	chr6:32293411-32293461	HRCEpiC	kidney:	n/a
28	chr6:32293578-32293628	A549	lung:	n/a
29	chr6:32292992-32293042	HPAEpiC	pulmonary alveolar:	n/a
30	chr6:32294260-32294310	U87	brain:	n/a
31	chr6:32294260-32294310	NHBE	bronchial:	n/a
32	chr6:32293411-32293461	NH-A	brain:	n/a
33	chr6:32294260-32294310	HNPCEpiC	eye:	n/a
34	chr6:32293207-32293257	PFSK-1	brain:	n/a
35	chr6:32293411-32293461	MCF10A-Er-Src	breast:	n/a
36	chr6:32293117-32293167	AG04449	skin:	fetal
37	chr6:32293578-32293628	ECC-1	luminal epithelium:	n/a
38	chr6:32293411-32293461	PFSK-1	brain:	n/a
39	chr6:32293411-32293461	HCF	heart:	n/a
40	chr6:32293117-32293167	NB4	blood:	n/a
41	chr6:32293207-32293257	NT2-D1	testis:	n/a
42	chr6:32293207-32293257	GM12878	blood:	n/a
43	chr6:32293411-32293461	BE2_C	brain:	n/a
44	chr6:32293578-32293628	HPAEpiC	pulmonary alveolar:	n/a
45	chr6:32294260-32294310	AG04449	skin:	fetal
46	chr6:32293207-32293257	K562	blood:	n/a
47	chr6:32293411-32293461	PANC-1	pancreas:	n/a
48	chr6:32293578-32293628	HAEpiC	amniotic membrane:	n/a
49	chr6:32294260-32294310	GM06990	blood:	n/a
50	chr6:32293411-32293461	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:32293492..32295346-chr6:32818511..32821148,2	K562	blood:

No data

Variant related genes	Relation type
HNRNPA1P2	TF binding region
HNRNPA1P2	CpG island
ENSG00000168394	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 129 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552339	chr6:32292715-32292716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182544893	chr6:32292732-32292733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188059863	chr6:32292733-32292734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528034243	chr6:32292808-32292809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536693	chr6:32292818-32292819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543886582	chr6:32292864-32292865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550771623	chr6:32292891-32292892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9501178	chr6:32292917-32292918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs3132957	chr6:32292956-32292957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548799780	chr6:32292960-32292961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9501179	chr6:32292993-32292994	Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs192642006	chr6:32293025-32293026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371354341	chr6:32293037-32293038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115191445	chr6:32293040-32293041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183413491	chr6:32293046-32293047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566416236	chr6:32293118-32293119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145306895	chr6:32293121-32293122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147215248	chr6:32293127-32293128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572927531	chr6:32293138-32293139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533816289	chr6:32293142-32293143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533885	chr6:32293152-32293153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs574016715	chr6:32293155-32293156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544474420	chr6:32293203-32293204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187405143	chr6:32293239-32293240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs511874	chr6:32293255-32293256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs144613627	chr6:32293295-32293296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374703858	chr6:32293335-32293336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527778995	chr6:32293385-32293386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553526621	chr6:32293411-32293412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145781227	chr6:32293412-32293413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs510181	chr6:32293434-32293435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148956872	chr6:32293445-32293446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142845961	chr6:32293467-32293468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28732190	chr6:32293509-32293510	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547670288	chr6:32293516-32293517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs2077002	chr6:32293532-32293533	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs533856519	chr6:32293551-32293552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555430886	chr6:32293565-32293566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2077333	chr6:32293570-32293571	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs2395143	chr6:32293578-32293579	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564711637	chr6:32293583-32293584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs471081	chr6:32293598-32293599	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561333528	chr6:32293623-32293624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577815444	chr6:32293667-32293668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs471964	chr6:32293671-32293672	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs553544308	chr6:32293749-32293750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572243095	chr6:32293778-32293779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs542731688	chr6:32293927-32293928	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192250285	chr6:32293936-32293937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs9268245	chr6:32293941-32293942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:129)

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
Ependymoma	19289631	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
Melanoma	17363583	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32286200-32294200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:32288400-32296600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:32291600-32294400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:32293200-32297000	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:32293800-32295400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:32294200-32294400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:32294200-32294400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:32294200-32295400	Enhancers	Primary neutrophils fromperipheralblood	blood

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