Variant report

Variant	esv3436593
Chromosome Location	chr6:34010074-34014572
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:34009054..34010918-chr6:34013768..34015577,2	K562	blood:
2	chr6:34014361..34016508-chr6:34070604..34072147,2	MCF-7	breast:
3	chr6:34009054..34010918-chr6:34013768..34015577,2	K562	blood:
4	chr6:34011747..34013677-chr6:34019752..34021828,2	K562	blood:
5	chr6:34007334..34011465-chr6:34013510..34016202,3	MCF-7	breast:
6	chr6:34007682..34010620-chr6:34022223..34024070,2	K562	blood:
7	chr6:34012736..34015339-chr6:34023792..34026644,2	K562	blood:
8	chr6:34007334..34011465-chr6:34013510..34016202,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124493	chromatin interactions

Extended variants
information (count: 268 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574141074	chr6:34010090-34010091	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544584578	chr6:34010114-34010115	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556768537	chr6:34010122-34010123	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578183472	chr6:34010150-34010151	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545062155	chr6:34010153-34010154	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530622182	chr6:34010173-34010174	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369859644	chr6:34010242-34010243	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560174792	chr6:34010278-34010279	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527411084	chr6:34010354-34010355	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545378465	chr6:34010371-34010372	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542710638	chr6:34010441-34010442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372450017	chr6:34010445-34010446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560935733	chr6:34010499-34010500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144762047	chr6:34010520-34010521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190138170	chr6:34010576-34010577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140108368	chr6:34010592-34010593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13216961	chr6:34010593-34010594	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551393241	chr6:34010600-34010601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375736944	chr6:34010607-34010608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566503632	chr6:34010625-34010626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181797405	chr6:34010640-34010641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34653766	chr6:34010687-34010688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185634929	chr6:34010694-34010695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548131060	chr6:34010710-34010711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565176415	chr6:34010764-34010765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75557403	chr6:34010794-34010795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7772059	chr6:34010803-34010804	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs144287719	chr6:34010808-34010809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545695111	chr6:34010811-34010812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190562453	chr6:34010830-34010831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531033818	chr6:34010831-34010832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112327553	chr6:34010835-34010836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2451326	chr6:34010888-34010889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs368215433	chr6:34010908-34010909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141118080	chr6:34010933-34010934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543638634	chr6:34010935-34010936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564910688	chr6:34010944-34010945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532297891	chr6:34010968-34010969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142530047	chr6:34011008-34011009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115002272	chr6:34011045-34011046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7775780	chr6:34011066-34011067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548960500	chr6:34011089-34011090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150933563	chr6:34011115-34011116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114247560	chr6:34011157-34011158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558584374	chr6:34011164-34011165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375171973	chr6:34011169-34011170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550376248	chr6:34011179-34011180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571720414	chr6:34011195-34011196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539356671	chr6:34011235-34011236	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554459228	chr6:34011269-34011270	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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

Chromatin state (count:70 , 50 per page) page: 1 2

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	chr6:33988000-34013600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:33994400-34013000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:34000200-34016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:34002800-34027000	Weak transcription	Spleen	Spleen
7	chr6:34004000-34013400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:34004200-34013400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:34004400-34011000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:34004400-34013400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:34010000-34010200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:34010000-34010400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:34010000-34010400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:34010000-34010600	Enhancers	GM12878-XiMat	blood
15	chr6:34010200-34010400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:34010200-34010400	Enhancers	Brain Anterior Caudate	brain
17	chr6:34010400-34011000	Weak transcription	Brain Anterior Caudate	brain
18	chr6:34010400-34013000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:34010400-34013000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:34010400-34013400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:34010600-34011200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:34010600-34012000	Weak transcription	GM12878-XiMat	blood
23	chr6:34011000-34011600	Enhancers	Brain Anterior Caudate	brain
24	chr6:34011200-34011600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:34011600-34013600	Weak transcription	Brain Anterior Caudate	brain
26	chr6:34011800-34012000	Enhancers	Fetal Kidney	kidney
27	chr6:34012000-34012800	Bivalent Enhancer	Fetal Brain Male	brain
28	chr6:34012000-34012800	Bivalent Enhancer	Fetal Kidney	kidney
29	chr6:34012400-34012600	Enhancers	Fetal Heart	heart
30	chr6:34012400-34013600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr6:34012600-34012800	Enhancers	Primary T cells from cord blood	blood
32	chr6:34012600-34013200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:34012600-34013400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:34012600-34013400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr6:34012600-34013600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr6:34012600-34013600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr6:34012600-34014400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:34012800-34013200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr6:34012800-34013200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:34012800-34013200	Enhancers	Fetal Brain Male	brain
41	chr6:34013000-34013200	Enhancers	GM12878-XiMat	blood
42	chr6:34013000-34013400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:34013000-34013400	Enhancers	Brain Germinal Matrix	brain
44	chr6:34013000-34013800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:34013000-34014000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr6:34013000-34014600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:34013200-34013600	Weak transcription	Fetal Brain Male	brain
48	chr6:34013400-34013600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:34013400-34013600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:34013400-34013600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links