Variant report

Variant	esv3475103
Chromosome Location	chr6:12044653-12045155
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:11655910..11656421-chr6:12044919..12045754,2	MCF-7	breast:
2	chr6:12025673..12027383-chr6:12043911..12045956,2	K562	blood:
3	chr6:12012253..12015123-chr6:12042911..12046207,3	MCF-7	breast:
4	chr6:12038480..12040741-chr6:12042062..12044805,2	K562	blood:
5	chr6:12038244..12040741-chr6:12042062..12045321,3	K562	blood:
6	chr6:12009789..12012137-chr6:12043704..12046977,3	MCF-7	breast:
7	chr6:12010545..12015080-chr6:12042990..12048217,6	MCF-7	breast:
8	chr6:12010419..12012181-chr6:12045001..12046641,2	K562	blood:
9	chr6:12042974..12045827-chr6:12047311..12049973,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000095951	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139821525	chr6:12044664-12044665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576214223	chr6:12044668-12044669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535446546	chr6:12044684-12044685	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs62395285	chr6:12044729-12044730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540942198	chr6:12044739-12044740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561249496	chr6:12044744-12044745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529807702	chr6:12044745-12044746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550002028	chr6:12044750-12044751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs9462420	chr6:12044752-12044753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532640934	chr6:12044755-12044756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146664030	chr6:12044756-12044757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs62395286	chr6:12044758-12044759	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189306320	chr6:12044767-12044768	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535039487	chr6:12044772-12044773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs62395287	chr6:12044778-12044779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs62395288	chr6:12044791-12044792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75772242	chr6:12044797-12044798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77195334	chr6:12044802-12044803	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs78146351	chr6:12044803-12044804	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs35496291	chr6:12044807-12044808	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs79858458	chr6:12044814-12044815	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs74535608	chr6:12044815-12044816	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537396990	chr6:12044861-12044862	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557125658	chr6:12044892-12044893	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs377535061	chr6:12044942-12044943	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs180876454	chr6:12044970-12044971	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs9470844	chr6:12044976-12044977	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs571915660	chr6:12045038-12045039	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs373095888	chr6:12045079-12045080	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs116657692	chr6:12045093-12045094	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs140813287	chr6:12045098-12045099	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375831829	chr6:12045127-12045128	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12018600-12049400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:12018600-12052000	Weak transcription	Thymus	Thymus
3	chr6:12023200-12047800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:12026000-12044800	Weak transcription	NHDF-Ad	bronchial
5	chr6:12029200-12045000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:12032000-12044800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:12032000-12044800	Weak transcription	NH-A	brain
8	chr6:12032000-12047600	Weak transcription	Fetal Stomach	stomach
9	chr6:12034400-12045000	Weak transcription	HUVEC	blood vessel
10	chr6:12034600-12044800	Weak transcription	Hela-S3	cervix
11	chr6:12034600-12045000	Weak transcription	A549	lung
12	chr6:12034800-12047600	Weak transcription	Fetal Intestine Large	intestine
13	chr6:12034800-12061000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:12035000-12049800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:12035200-12044800	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:12035200-12044800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:12035200-12047800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:12035200-12052200	Weak transcription	Stomach Mucosa	stomach
19	chr6:12035400-12044800	Weak transcription	Aorta	Aorta
20	chr6:12035400-12044800	Weak transcription	HSMMtube	muscle
21	chr6:12035400-12045000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:12035600-12044800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:12038000-12047600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:12038200-12044800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:12038200-12044800	Weak transcription	Brain Angular Gyrus	brain
26	chr6:12038200-12045000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:12038200-12045000	Weak transcription	Ovary	ovary
28	chr6:12038200-12045000	Weak transcription	Small Intestine	intestine
29	chr6:12038400-12044800	Weak transcription	Primary B cells from cord blood	blood
30	chr6:12038400-12044800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:12038400-12045000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:12038600-12044800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:12040000-12044800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr6:12040000-12045600	Weak transcription	Primary T cells from cord blood	blood
35	chr6:12040200-12044800	Weak transcription	Right Ventricle	heart
36	chr6:12040200-12044800	Weak transcription	Spleen	Spleen
37	chr6:12040200-12045000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:12040200-12045000	Weak transcription	Gastric	stomach
39	chr6:12040200-12047600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:12040200-12048000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr6:12040200-12048600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:12040200-12060800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:12040400-12044800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:12040400-12044800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr6:12040400-12044800	Weak transcription	Adipose Nuclei	Adipose
46	chr6:12040400-12044800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:12040400-12045000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:12040400-12045000	Weak transcription	Left Ventricle	heart
49	chr6:12040400-12045000	Weak transcription	Psoas Muscle	Psoas
50	chr6:12040400-12047400	Weak transcription	H1 Cell Line	embryonic stem cell

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