Variant report

Variant	esv3438269
Chromosome Location	chr6:33997674-34002172
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34001507..34003993-chr6:34004424..34006060,2	K562	blood:
2	chr6:33995413..33997686-chr6:34000542..34003138,2	K562	blood:
3	chr6:33990582..33994151-chr6:33994836..33998218,3	MCF-7	breast:
4	chr6:33997116..33999259-chr6:34004517..34006268,2	MCF-7	breast:
5	chr6:33995413..33997686-chr6:34000542..34003138,2	K562	blood:
6	chr6:33738171..33740892-chr6:33996773..33998948,2	K562	blood:
7	chr6:34000675..34003589-chr6:34005786..34007935,2	MCF-7	breast:
8	chr6:34001967..34003797-chr6:34007437..34009006,2	K562	blood:
9	chr6:33999477..34001932-chr6:34022950..34026113,3	MCF-7	breast:
10	chr6:33999705..34002254-chr6:34018446..34020183,2	K562	blood:
11	chr6:33989625..33994952-chr6:33996605..33998585,4	K562	blood:
12	chr6:34002105..34003797-chr6:34007506..34009026,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGA1-8	chr6:34000089-34000438	NONHSAT112111

No data

Variant related genes	Relation type
ENSG00000124493	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2451378	chr6:33997720-33997721	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs3778043	chr6:33997754-33997755	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181652980	chr6:33997784-33997785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555139429	chr6:33997803-33997804	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs186171229	chr6:33997804-33997805	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs570792034	chr6:33997835-33997836	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs537996134	chr6:33997850-33997851	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs3778044	chr6:33997865-33997866	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147483320	chr6:33997866-33997867	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs545310703	chr6:33997924-33997925	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs558163545	chr6:33997925-33997926	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs148545209	chr6:33997939-33997940	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs540736974	chr6:33997944-33997945	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs562001795	chr6:33997953-33997954	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs140357921	chr6:33997992-33997993	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs575288258	chr6:33997993-33997994	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs34658218	chr6:33998018-33998019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142877111	chr6:33998052-33998053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151028620	chr6:33998132-33998133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533479741	chr6:33998181-33998182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34370618	chr6:33998191-33998192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6905040	chr6:33998224-33998225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368639323	chr6:33998234-33998235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78301741	chr6:33998262-33998263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527255259	chr6:33998273-33998274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566093501	chr6:33998286-33998287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567201253	chr6:33998299-33998300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191079676	chr6:33998301-33998302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556432649	chr6:33998355-33998356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571449019	chr6:33998379-33998380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9469688	chr6:33998386-33998387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79285640	chr6:33998400-33998401	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200366575	chr6:33998483-33998484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146886149	chr6:33998512-33998513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540217275	chr6:33998539-33998540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6905771	chr6:33998576-33998577	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs573834779	chr6:33998634-33998635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544284762	chr6:33998654-33998655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367882000	chr6:33998725-33998726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs55855703	chr6:33998738-33998739	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs533318953	chr6:33998825-33998826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562511119	chr6:33998963-33998964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545695995	chr6:33998969-33998970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75086809	chr6:33998970-33998971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527281455	chr6:33998995-33998996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548746800	chr6:33999000-33999001	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs544023618	chr6:33999014-33999015	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs140662865	chr6:33999016-33999017	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs549875985	chr6:33999019-33999020	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs117478913	chr6:33999040-33999041	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33984000-34010200	Weak transcription	Brain Anterior Caudate	brain
2	chr6:33984400-34023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:33985200-34002200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:33985800-34000400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:33986200-34009600	Weak transcription	Right Atrium	heart
6	chr6:33988000-34013600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:33991000-34003400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:33992200-33999800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:33992800-33999000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:33994400-34013000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:33995200-33998400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:33995600-33999000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:33996000-33999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:33996200-33999800	Weak transcription	Spleen	Spleen
15	chr6:33996800-33998000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:33997800-33998000	Bivalent Enhancer	K562	blood
17	chr6:33998000-33998200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:33998200-33998400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:33998400-33999000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:33998400-34003000	Enhancers	Fetal Thymus	thymus
21	chr6:33999000-33999200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:33999000-33999200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:33999000-33999200	Bivalent Enhancer	Placenta	Placenta
24	chr6:33999000-33999400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr6:33999000-33999800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:33999000-33999800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:33999000-34000000	Enhancers	GM12878-XiMat	blood
28	chr6:33999000-34000200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:33999200-33999400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr6:33999200-33999600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr6:33999200-33999600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:33999200-33999800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:33999200-33999800	Enhancers	Primary hematopoietic stem cells	blood
34	chr6:33999200-34000800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:33999400-33999600	Enhancers	Primary B cells from peripheral blood	blood
36	chr6:33999400-33999600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:33999800-34000000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:33999800-34000200	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr6:33999800-34001000	Enhancers	Spleen	Spleen
40	chr6:34000000-34000800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:34000000-34003800	Weak transcription	GM12878-XiMat	blood
42	chr6:34000200-34003400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:34000200-34016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:34000400-34001000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:34000800-34001000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:34000800-34001000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:34001000-34002200	Weak transcription	Spleen	Spleen
48	chr6:34001000-34003400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:34001000-34003600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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