Variant report

Variant	esv1812632
Chromosome Location	chr6:30985635-31002013
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:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30991705..30994740-chr6:30996173..30998795,3	K562	blood:
2	chr6:30992122..30993777-chr6:30998805..31001666,2	MCF-7	breast:
3	chr6:30989389..30991180-chr6:30994181..30996114,2	K562	blood:
4	chr6:30975520..30978451-chr6:30989094..30991003,2	K562	blood:
5	chr6:30999055..31000640-chr6:31000771..31002332,2	K562	blood:
6	chr6:30999055..31000640-chr6:31000771..31002332,2	K562	blood:
7	chr6:30992122..30993777-chr6:30998805..31001666,2	MCF-7	breast:
8	chr6:30992182..30995323-chr6:30998811..31002073,3	K562	blood:
9	chr6:30989389..30991180-chr6:30994181..30996114,2	K562	blood:
10	chr6:30991705..30994740-chr6:30996173..30998795,3	K562	blood:
11	chr6:30971805..30974320-chr6:30984460..30987060,2	K562	blood:
12	chr6:30990191..30992901-chr6:31003159..31005249,2	K562	blood:
13	chr6:30992875..30996671-chr6:31006000..31008963,4	K562	blood:
14	chr6:30992182..30995323-chr6:30998811..31002073,3	K562	blood:
15	chr6:31001503..31003399-chr6:31005884..31008190,2	K562	blood:
16	chr6:30998897..31001147-chr6:31006108..31008262,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC21-1	chr6:30999973-31000358	XLOC_005242
2	lnc-MUC21-1	chr6:30997689-30997877	XLOC_005242

No data

Variant related genes	Relation type
ENSG00000261272	chromatin interactions

Extended variants
information (count: 970 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:970 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6933042	chr6:30985635-30985636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555312363	chr6:30985636-30985637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576850782	chr6:30985664-30985665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6910464	chr6:30985686-30985687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529971425	chr6:30985693-30985694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377150132	chr6:30985694-30985695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556224981	chr6:30985699-30985700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6910475	chr6:30985708-30985709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544793628	chr6:30985709-30985710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6910484	chr6:30985726-30985727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115598724	chr6:30985768-30985769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150395961	chr6:30985774-30985775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181853985	chr6:30985778-30985779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6910636	chr6:30985793-30985794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185482502	chr6:30985794-30985795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114859604	chr6:30985809-30985810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547578786	chr6:30985812-30985813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1634726	chr6:30985828-30985829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs6910669	chr6:30985859-30985860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs17196311	chr6:30985866-30985867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs114016843	chr6:30985872-30985873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538652228	chr6:30985873-30985874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9394027	chr6:30985885-30985886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs6910700	chr6:30985957-30985958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs141078590	chr6:30985972-30985973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57175035	chr6:30985973-30985974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17189959	chr6:30985978-30985979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9262492	chr6:30986015-30986016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs386698827	chr6:30986038-30986039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542409958	chr6:30986039-30986040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17189980	chr6:30986040-30986041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575915068	chr6:30986041-30986042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9461643	chr6:30986051-30986052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs3906268	chr6:30986079-30986080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs6911186	chr6:30986120-30986121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs17196346	chr6:30986137-30986138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145247885	chr6:30986162-30986163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115018720	chr6:30986205-30986206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376860390	chr6:30986234-30986235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548786850	chr6:30986250-30986251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3873345	chr6:30986264-30986265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs537715380	chr6:30986274-30986275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141275562	chr6:30986281-30986282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3084521	chr6:30986303-30986304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3063655	chr6:30986307-30986308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386698828	chr6:30986308-30986309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs5002840	chr6:30986310-30986311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1345230	chr6:30986312-30986313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189907854	chr6:30986331-30986332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145048612	chr6:30986333-30986334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	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
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
Breast cancer	21364760	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
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30972600-30997600	Weak transcription	Right Atrium	heart
2	chr6:30986000-30986200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:30987800-30988400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:30988000-30988200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
5	chr6:30988000-30988400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:30988200-30988400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
7	chr6:30988200-30988400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:30988200-30988400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:30988200-30988600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:30988200-30988600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:30988200-30988600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr6:30988400-30988800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr6:30988400-30988800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr6:30988400-30988800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:30988400-30988800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:30988400-30989000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr6:30988600-30988800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:30988600-30988800	Bivalent Enhancer	Esophagus	oesophagus
19	chr6:30988600-30989000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:30988800-30989000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:30989000-30993400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:30993200-30993400	Weak transcription	Left Ventricle	heart
23	chr6:30993400-30993800	Enhancers	Left Ventricle	heart
24	chr6:30993400-30997800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:30994800-30995000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:30997600-30997800	Enhancers	Right Atrium	heart
27	chr6:30997800-30998600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:30997800-31005000	Weak transcription	Right Atrium	heart
29	chr6:30998400-30999200	Enhancers	Pancreas	Pancrea
30	chr6:30999200-31004400	Weak transcription	Pancreas	Pancrea
31	chr6:31001200-31001400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:31001600-31004800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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