Variant report

Variant	esv275561
Chromosome Location	chr6:5281294-5285172
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:5261565..5263835-chr6:5284540..5287301,3	MCF-7	breast:
2	chr6:5284244..5290564-chr6:5292142..5296092,7	K562	blood:
3	chr6:5279637..5281330-chr6:5284508..5287117,2	K562	blood:
4	chr6:5279637..5281330-chr6:5284508..5287117,2	K562	blood:
5	chr6:5280760..5282906-chr6:5284734..5288197,3	K562	blood:
6	chr6:5232933..5235244-chr6:5282951..5285822,2	K562	blood:
7	chr6:5280760..5282906-chr6:5284734..5288197,3	K562	blood:
8	chr6:5275045..5278604-chr6:5280944..5282922,3	K562	blood:
9	chr6:5273787..5275351-chr6:5283823..5285479,2	K562	blood:
10	chr6:5260884..5263189-chr6:5279736..5282482,2	K562	blood:
11	chr6:5270189..5272095-chr6:5280821..5282645,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145982	chromatin interactions
ENSG00000214113	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:180 , 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	rs553201730	chr6:5281329-5281330	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs529811303	chr6:5281428-5281429	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs9328292	chr6:5281449-5281450	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562133627	chr6:5281466-5281467	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs376914884	chr6:5281467-5281468	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs77247319	chr6:5281472-5281473	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs191210727	chr6:5281535-5281536	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs117445526	chr6:5281544-5281545	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs372501713	chr6:5281588-5281589	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs528577255	chr6:5281599-5281600	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs185033490	chr6:5281623-5281624	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs561931875	chr6:5281643-5281644	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs529414871	chr6:5281672-5281673	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs140016452	chr6:5281723-5281724	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs145344939	chr6:5281734-5281735	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533684719	chr6:5281751-5281752	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs568883532	chr6:5281753-5281754	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs9328293	chr6:5281762-5281763	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
19	rs548342291	chr6:5281765-5281766	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs570474524	chr6:5281770-5281771	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs6935406	chr6:5281865-5281866	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs533999212	chr6:5281866-5281867	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs546750204	chr6:5281873-5281874	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs111287774	chr6:5281876-5281877	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs570665008	chr6:5281920-5281921	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs535598692	chr6:5281936-5281937	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs147679537	chr6:5281937-5281938	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs187967018	chr6:5281965-5281966	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs539767948	chr6:5281975-5281976	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs557848262	chr6:5282010-5282011	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs572938540	chr6:5282018-5282019	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs540249324	chr6:5282023-5282024	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs561817173	chr6:5282027-5282028	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs573797773	chr6:5282039-5282040	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs148469217	chr6:5282045-5282046	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563134963	chr6:5282082-5282083	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs192819635	chr6:5282085-5282086	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs552080184	chr6:5282087-5282088	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs7774414	chr6:5282093-5282094	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs17736496	chr6:5282118-5282119	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs575269478	chr6:5282138-5282139	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs17140068	chr6:5282227-5282228	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs568123512	chr6:5282296-5282297	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs370714583	chr6:5282381-5282382	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs550500158	chr6:5282398-5282399	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs17140075	chr6:5282415-5282416	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs574542008	chr6:5282422-5282423	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368604757	chr6:5282477-5282478	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs185204861	chr6:5282486-5282487	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540435394	chr6:5282496-5282497	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
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
small cell lung cancer	20016488	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5262400-5287200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:5262400-5302400	Weak transcription	Aorta	Aorta
3	chr6:5262600-5287200	Weak transcription	Esophagus	oesophagus
4	chr6:5262600-5287600	Weak transcription	Ovary	ovary
5	chr6:5262800-5287200	Weak transcription	Spleen	Spleen
6	chr6:5262800-5287400	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:5263000-5285200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr6:5263000-5287200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:5263000-5287400	Weak transcription	Fetal Stomach	stomach
10	chr6:5263000-5287800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr6:5263000-5301000	Weak transcription	Fetal Brain Male	brain
12	chr6:5263200-5287800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:5263400-5287400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:5263400-5287600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:5263800-5291800	Weak transcription	Fetal Intestine Small	intestine
16	chr6:5267000-5290400	Weak transcription	HepG2	liver
17	chr6:5268000-5294400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:5273800-5285000	Weak transcription	Lung	lung
19	chr6:5274600-5287200	Weak transcription	Left Ventricle	heart
20	chr6:5274800-5287800	Weak transcription	NHEK	skin
21	chr6:5275000-5281800	Weak transcription	Dnd41	blood
22	chr6:5275000-5282200	Weak transcription	K562	blood
23	chr6:5275000-5290400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr6:5275200-5287400	Weak transcription	Psoas Muscle	Psoas
25	chr6:5275400-5281800	Weak transcription	HSMM	muscle
26	chr6:5275800-5285400	Weak transcription	Gastric	stomach
27	chr6:5276600-5287400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr6:5276600-5294000	Weak transcription	Fetal Intestine Large	intestine
29	chr6:5277200-5282200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:5277200-5283000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:5277400-5282400	Weak transcription	Pancreas	Pancrea
32	chr6:5277400-5287200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:5278600-5287200	Weak transcription	Right Ventricle	heart
34	chr6:5278800-5282000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:5279200-5287400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:5279200-5289800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:5279400-5282000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:5279400-5282000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr6:5279400-5282000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:5279400-5282200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:5279400-5282200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr6:5279400-5282200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr6:5279400-5282400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:5279400-5288200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr6:5279400-5298200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:5280000-5281400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:5280000-5281600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:5280200-5281400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:5280200-5281400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr6:5280200-5282000	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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