Variant report

Variant	nsv884717
Chromosome Location	chr6:32224388-32286761
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:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:32084866..32087270-chr6:32222075..32224600,2	K562	blood:
2	chr6:32260150..32262258-chr6:32267045..32269420,2	MCF-7	breast:
3	chr6:32259346..32261422-chr6:32263927..32266328,2	MCF-7	breast:
4	chr6:32251349..32253695-chr6:32277418..32279197,2	MCF-7	breast:
5	chr6:32260223..32261904-chr6:32262964..32264831,2	K562	blood:
6	chr6:32260223..32261904-chr6:32262964..32264831,2	K562	blood:
7	chr6:32264476..32267942-chr6:32268038..32271496,3	K562	blood:
8	chr6:32266172..32268310-chr6:32269017..32271310,2	MCF-7	breast:
9	chr6:32259346..32261422-chr6:32263927..32266328,2	MCF-7	breast:
10	chr6:32264476..32267942-chr6:32268038..32271496,3	K562	blood:
11	chr6:32251349..32253695-chr6:32277418..32279197,2	MCF-7	breast:
12	chr6:32266172..32268310-chr6:32269017..32271310,2	MCF-7	breast:
13	chr6:32221059..32223929-chr6:32261762..32264103,2	MCF-7	breast:
14	chr6:32260150..32262258-chr6:32267045..32269420,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF5-1	chr6:32230389-32233615	ENSG00000225914.1

No data

Variant related genes	Relation type
ENSG00000213676	chromatin interactions
ENSG00000225914	chromatin interactions

Extended variants
information (count: 1811 )
Associated
traits (count: 133 )

Variant overlapped rSNPs/rCNVs (count:1811 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9268005	chr6:32224388-32224389	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573942542	chr6:32224423-32224424	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192270475	chr6:32224433-32224434	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6908903	chr6:32224439-32224440	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6908464	chr6:32224445-32224446	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184048983	chr6:32224449-32224450	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546957361	chr6:32224456-32224457	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568672155	chr6:32224457-32224458	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs6931322	chr6:32224463-32224464	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs6908927	chr6:32224489-32224490	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569725267	chr6:32224491-32224492	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547098982	chr6:32224543-32224544	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537059434	chr6:32224559-32224560	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558559513	chr6:32224567-32224568	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114866685	chr6:32224580-32224581	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534949983	chr6:32224589-32224590	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552980743	chr6:32224617-32224618	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs373180641	chr6:32224655-32224656	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs574620473	chr6:32224737-32224738	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs34119183	chr6:32224764-32224765	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs143021603	chr6:32224765-32224766	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs72548036	chr6:32224777-32224778	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs386358891	chr6:32224778-32224779	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs187793703	chr6:32224784-32224785	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs9268012	chr6:32224792-32224793	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs9268013	chr6:32224828-32224829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545818037	chr6:32224829-32224830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9268014	chr6:32224852-32224853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528453949	chr6:32224862-32224863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112601065	chr6:32224872-32224873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201779830	chr6:32224876-32224877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147109796	chr6:32224885-32224886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111728794	chr6:32224887-32224888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141628766	chr6:32224888-32224889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199599077	chr6:32224899-32224900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9268015	chr6:32224937-32224938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529498151	chr6:32224986-32224987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9268016	chr6:32225050-32225051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs569788507	chr6:32225060-32225061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9268017	chr6:32225072-32225073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs147705333	chr6:32225086-32225087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142420384	chr6:32225106-32225107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534319205	chr6:32225121-32225122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553233214	chr6:32225131-32225132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9268018	chr6:32225197-32225198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535656297	chr6:32225198-32225199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556712801	chr6:32225222-32225223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199532837	chr6:32225235-32225236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9268019	chr6:32225256-32225257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545928177	chr6:32225260-32225261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:133)

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
Ovarian cancer	21781307	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
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
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32222200-32224400	Active TSS	Fetal Kidney	kidney
2	chr6:32222200-32224800	Active TSS	Fetal Brain Female	brain
3	chr6:32223200-32224400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:32223600-32230800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:32223600-32231200	Weak transcription	Spleen	Spleen
6	chr6:32223800-32224400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:32223800-32224400	Active TSS	Brain Anterior Caudate	brain
8	chr6:32223800-32224600	Enhancers	HUVEC	blood vessel
9	chr6:32223800-32224800	Weak transcription	Small Intestine	intestine
10	chr6:32223800-32230600	Weak transcription	Ovary	ovary
11	chr6:32223800-32230800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:32224000-32224400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:32224000-32224400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:32224000-32224400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:32224000-32224600	Weak transcription	Primary B cells from cord blood	blood
16	chr6:32224000-32224600	Active TSS	Fetal Brain Male	brain
17	chr6:32224000-32233800	Weak transcription	Fetal Lung	lung
18	chr6:32224000-32233800	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:32224200-32224600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:32224200-32230600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:32224400-32224800	Enhancers	Primary B cells from peripheral blood	blood
22	chr6:32224400-32241000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:32224600-32224800	Enhancers	Primary B cells from cord blood	blood
24	chr6:32224600-32224800	Flanking Active TSS	Fetal Brain Male	brain
25	chr6:32225800-32230400	Weak transcription	Fetal Stomach	stomach
26	chr6:32230400-32231600	ZNF genes & repeats	Fetal Stomach	stomach
27	chr6:32230600-32230800	ZNF genes & repeats	Brain Germinal Matrix	brain
28	chr6:32230600-32231600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:32230600-32231600	Strong transcription	Ovary	ovary
30	chr6:32230800-32231000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:32230800-32231400	ZNF genes & repeats	Fetal Brain Female	brain
32	chr6:32230800-32231600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr6:32230800-32232200	Weak transcription	Brain Germinal Matrix	brain
34	chr6:32231000-32246800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:32231200-32231400	Active TSS	Spleen	Spleen
36	chr6:32231400-32231800	Weak transcription	Fetal Brain Female	brain
37	chr6:32231600-32233200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr6:32231600-32235400	Weak transcription	Ovary	ovary
39	chr6:32231600-32237200	Weak transcription	Fetal Stomach	stomach
40	chr6:32231600-32244200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:32233800-32234000	ZNF genes & repeats	Fetal Lung	lung
42	chr6:32233800-32234000	ZNF genes & repeats	Fetal Muscle Leg	muscle
43	chr6:32234000-32234400	Weak transcription	Fetal Muscle Leg	muscle
44	chr6:32234000-32238200	Weak transcription	Fetal Lung	lung
45	chr6:32234400-32236200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr6:32234400-32242200	Enhancers	Primary B cells from peripheral blood	blood
47	chr6:32234600-32236000	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr6:32234600-32237000	Enhancers	GM12878-XiMat	blood
49	chr6:32234600-32238800	Enhancers	Primary B cells from cord blood	blood
50	chr6:32236000-32238600	Weak transcription	Monocytes-CD14+_RO01746	blood

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