Variant report

Variant	nsv884056
Chromosome Location	chr6:30089623-30097818
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:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30033618..30036318-chr6:30097659..30102068,3	MCF-7	breast:
2	chr6:30092394..30094578-chr6:30120446..30121954,2	MCF-7	breast:
3	chr6:30029228..30033267-chr6:30087715..30091660,3	MCF-7	breast:
4	chr6:30091019..30094481-chr6:30095201..30099363,3	K562	blood:
5	chr6:30091019..30094481-chr6:30095201..30099363,3	K562	blood:
6	chr6:30090894..30093149-chr6:30095550..30098193,2	K562	blood:
7	chr6:30093045..30094849-chr6:30097589..30099576,2	MCF-7	breast:
8	chr6:30080946..30082589-chr6:30093243..30095341,2	MCF-7	breast:
9	chr6:30093045..30094849-chr6:30097589..30099576,2	MCF-7	breast:
10	chr6:30090894..30093149-chr6:30095550..30098193,2	K562	blood:
11	chr6:30044585..30046967-chr6:30097709..30100269,2	MCF-7	breast:
12	chr6:30070791..30073416-chr6:30095644..30098529,2	K562	blood:
13	chr6:30089484..30091081-chr6:30092185..30094762,2	K562	blood:
14	chr6:30089484..30091081-chr6:30092185..30094762,2	K562	blood:
15	chr6:30097580..30101195-chr6:30103058..30105479,3	MCF-7	breast:
16	chr6:30096297..30098577-chr6:30292705..30294693,2	MCF-7	breast:
17	chr6:30070867..30073416-chr6:30097029..30099845,2	K562	blood:
18	chr6:30070301..30072986-chr6:30097734..30100221,43	MCF-7	breast:
19	chr6:30079648..30081334-chr6:30091309..30093049,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM31-2	chr6:30093187-30095185	NONHSAT108603

No data

Variant related genes	Relation type
ENSG00000204616	chromatin interactions
ENSG00000204599	chromatin interactions
ENSG00000204619	chromatin interactions
ENSG00000231074	chromatin interactions
ENSG00000204623	chromatin interactions
ENSG00000270604	chromatin interactions
ENSG00000204614	chromatin interactions
ENSG00000231226	chromatin interactions

Extended variants
information (count: 316 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116431564	chr6:30089654-30089655	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192316939	chr6:30089678-30089679	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115805080	chr6:30089679-30089680	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528116283	chr6:30089694-30089695	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547669193	chr6:30089718-30089719	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540262089	chr6:30089729-30089730	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs116212330	chr6:30089746-30089747	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs115218258	chr6:30089806-30089807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185689675	chr6:30089904-30089905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570007375	chr6:30089986-30089987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564916276	chr6:30089997-30089998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187557940	chr6:30090004-30090005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549541808	chr6:30090005-30090006	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149982403	chr6:30090027-30090028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535042188	chr6:30090096-30090097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192151790	chr6:30090146-30090147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184231130	chr6:30090164-30090165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188848374	chr6:30090216-30090217	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115818238	chr6:30090244-30090245	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376800879	chr6:30090247-30090248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs530421593	chr6:30090250-30090251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181528788	chr6:30090266-30090267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548450299	chr6:30090312-30090313	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs9366753	chr6:30090336-30090337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs9261439	chr6:30090337-30090338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs572478646	chr6:30090373-30090374	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183730970	chr6:30090383-30090384	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370927138	chr6:30090406-30090407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567908137	chr6:30090408-30090409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115879449	chr6:30090417-30090418	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376245910	chr6:30090437-30090438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs114574103	chr6:30090476-30090477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs116521449	chr6:30090498-30090499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs115995223	chr6:30090532-30090533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs116375319	chr6:30090562-30090563	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532227994	chr6:30090583-30090584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184709138	chr6:30090630-30090631	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs114900082	chr6:30090633-30090634	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546044107	chr6:30090700-30090701	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115471648	chr6:30090702-30090703	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114414578	chr6:30090718-30090719	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs145155402	chr6:30090721-30090722	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs115028917	chr6:30090743-30090744	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567438391	chr6:30090789-30090790	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368047325	chr6:30090813-30090814	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs9261440	chr6:30090820-30090821	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs572613787	chr6:30090828-30090829	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs544559324	chr6:30090885-30090886	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs114906953	chr6:30090908-30090909	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575174786	chr6:30090910-30090911	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Ovarian cancer	21781307	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
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	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	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
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30082400-30091000	Weak transcription	HepG2	liver
2	chr6:30086200-30092600	Enhancers	Fetal Intestine Small	intestine
3	chr6:30087400-30090600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:30088000-30089800	Weak transcription	NHDF-Ad	bronchial
5	chr6:30089000-30092600	Enhancers	Fetal Intestine Large	intestine
6	chr6:30089200-30089800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr6:30089200-30090400	Enhancers	Colonic Mucosa	Colon
8	chr6:30089200-30092400	Enhancers	Hela-S3	cervix
9	chr6:30089400-30090600	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr6:30089400-30091000	Enhancers	Stomach Mucosa	stomach
11	chr6:30089400-30092400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr6:30089400-30092600	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:30089600-30089800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
14	chr6:30089600-30091200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:30089800-30090800	Enhancers	NHDF-Ad	bronchial
16	chr6:30090400-30091200	Weak transcription	Colonic Mucosa	Colon
17	chr6:30090600-30091000	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr6:30090600-30091200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:30091000-30091200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr6:30091000-30091400	Flanking Active TSS	Stomach Mucosa	stomach
21	chr6:30091000-30092400	Enhancers	HepG2	liver
22	chr6:30091200-30091400	Enhancers	Colonic Mucosa	Colon
23	chr6:30091400-30092200	Enhancers	Stomach Mucosa	stomach
24	chr6:30092200-30092400	Bivalent Enhancer	Stomach Mucosa	stomach
25	chr6:30092200-30092600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:30092200-30092600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr6:30092400-30093600	Weak transcription	HepG2	liver
28	chr6:30092400-30096200	Weak transcription	Hela-S3	cervix
29	chr6:30092600-30097200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:30093600-30094400	Enhancers	HepG2	liver
31	chr6:30094400-30094600	Bivalent Enhancer	HepG2	liver
32	chr6:30094400-30096000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr6:30094600-30094800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr6:30094600-30096000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:30094600-30096200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr6:30094800-30095000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:30094800-30095000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr6:30094800-30095200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
39	chr6:30094800-30096000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr6:30094800-30096200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
41	chr6:30094800-30096200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr6:30094800-30096200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr6:30094800-30096200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr6:30095000-30095200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:30095000-30095200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:30095000-30095200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr6:30095000-30095200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:30095000-30095200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
49	chr6:30095000-30095200	Bivalent Enhancer	Brain Hippocampus Middle	brain
50	chr6:30095000-30095200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain

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