Variant report

Variant	esv3366963
Chromosome Location	chr6:13296601-13296810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:13296703-13296985	K562	blood:	n/a	chr6:13296932-13296940
2	CTCF	chr6:13296720-13296870	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr6:13296760-13296910	Caco-2	colon:	n/a	n/a
4	CTCF	chr6:13296760-13296910	GM12874	blood:	n/a	n/a
5	CTCF	chr6:13296760-13296910	HepG2	liver:	n/a	n/a
6	CTCF	chr6:13296686-13296986	K562	blood:	n/a	chr6:13296932-13296940
7	CTCF	chr6:13296775-13296885	HepG2	liver:	n/a	n/a
8	CTCF	chr6:13296782-13296889	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr6:13296790-13296795	GM19239	blood:	n/a	n/a
10	CTCF	chr6:13296760-13296910	GM12870	blood:	n/a	n/a
11	CTCF	chr6:13296780-13296930	WERI-Rb-1	eye:	n/a	n/a
12	CTCF	chr6:13296714-13296900	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr6:13296784-13296902	GM12878	blood:	n/a	n/a
14	CTCF	chr6:13296764-13296905	GM19238	blood:	n/a	n/a
15	CTCF	chr6:13296720-13296870	GM06990	blood:	n/a	n/a
16	CTCF	chr6:13296743-13296927	K562	blood:	n/a	n/a
17	CTCF	chr6:13296790-13296852	GM19240	blood:	n/a	n/a
18	CTCF	chr6:13296760-13296910	HEK293	kidney:	n/a	n/a
19	CTCF	chr6:13296760-13296910	GM12866	blood:	n/a	n/a
20	CTCF	chr6:13296660-13296810	GM12871	blood:	n/a	n/a
21	CTCF	chr6:13296796-13296873	GM19239	blood:	n/a	n/a
22	CTCF	chr6:13296700-13296850	GM12864	blood:	n/a	n/a
23	CTCF	chr6:13296775-13296835	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr6:13296760-13296910	HA-sp	spinal cord:	n/a	n/a
25	CTCF	chr6:13296800-13296950	GM12868	blood:	n/a	chr6:13296932-13296940
26	CTCF	chr6:13296720-13296870	GM12875	blood:	n/a	n/a
27	POU2F2	chr6:13296773-13297234	GM12891	blood:	n/a	n/a
28	RAD21	chr6:13296756-13296945	HepG2	liver:	n/a	n/a
29	RAD21	chr6:13296670-13296980	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr6:13296729-13296891	K562	blood:	n/a	n/a
31	RAD21	chr6:13296696-13296945	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr6:13296682-13296894	K562	blood:	n/a	n/a
33	RAD21	chr6:13296574-13297032	H1-hESC	embryonic stem cell:	n/a	n/a
34	RUNX3	chr6:13296738-13297237	GM12878	blood:	n/a	n/a
35	SMC3	chr6:13296737-13296912	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13296423..13299352-chr6:13327386..13329977,2	MCF-7	breast:
2	chr6:13290208..13292111-chr6:13295404..13298068,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215022	TF binding region
ENSG00000145979	chromatin interactions
ENSG00000272379	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs408639	chr6:13296616-13296617	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541728409	chr6:13296617-13296618	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs561599355	chr6:13296618-13296619	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs374930013	chr6:13296635-13296636	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs543914397	chr6:13296651-13296652	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs5874412	chr6:13296659-13296660	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs34405803	chr6:13296660-13296661	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs564095461	chr6:13296678-13296679	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs183614334	chr6:13296700-13296701	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs546649477	chr6:13296703-13296704	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs142205617	chr6:13296727-13296728	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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	21448237	CNVD
Autism	22495311	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
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13274600-13302000	Weak transcription	Small Intestine	intestine
2	chr6:13285400-13302400	Weak transcription	HUVEC	blood vessel
3	chr6:13287000-13303600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:13287800-13298200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:13288400-13302600	Weak transcription	Hela-S3	cervix
6	chr6:13288400-13302800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:13288600-13302400	Strong transcription	Fetal Brain Female	brain
8	chr6:13288600-13302600	Strong transcription	Fetal Muscle Leg	muscle
9	chr6:13288600-13321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:13288600-13326400	Strong transcription	Primary T cells from cord blood	blood
11	chr6:13289000-13299800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:13289800-13327000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:13290200-13302800	Weak transcription	NHEK	skin
14	chr6:13290400-13296800	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr6:13290400-13310400	Strong transcription	Dnd41	blood
16	chr6:13290600-13296800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr6:13290600-13302800	Weak transcription	Stomach Mucosa	stomach
18	chr6:13291000-13297200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:13291000-13297400	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:13291000-13302800	Strong transcription	Fetal Stomach	stomach
21	chr6:13291200-13303000	Strong transcription	Fetal Intestine Small	intestine
22	chr6:13291200-13310400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr6:13291400-13297800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:13291400-13299600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr6:13291400-13300200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:13291400-13303600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:13291600-13297000	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:13291600-13297400	Strong transcription	Gastric	stomach
29	chr6:13291600-13297600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr6:13291600-13298200	Strong transcription	Lung	lung
31	chr6:13291600-13298600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:13291600-13298600	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:13291600-13300800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr6:13291600-13302400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:13291600-13302400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr6:13291600-13302600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:13291600-13302600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr6:13291600-13305800	Strong transcription	Thymus	Thymus
39	chr6:13291800-13301800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:13291800-13320400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr6:13292000-13296800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr6:13292000-13302600	Strong transcription	Fetal Intestine Large	intestine
43	chr6:13292000-13326000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:13292200-13296800	Strong transcription	HepG2	liver
45	chr6:13292400-13297000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:13292400-13299800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:13292400-13302600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr6:13292600-13297000	Strong transcription	NHLF	lung
49	chr6:13292600-13299400	Weak transcription	Psoas Muscle	Psoas
50	chr6:13292600-13326600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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