Variant report

Variant	esv3382084
Chromosome Location	chr6:13622355-13622792
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:11)
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	chr6:13622608-13622668	ProgFib	skin:	n/a	n/a
2	HEY1	chr6:13622006-13622443	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:13622644-13622708	ProgFib	skin:	n/a	n/a
4	POLR2A	chr6:13622368-13622829	K562	blood:	n/a	n/a
5	POLR2A	chr6:13622414-13622822	K562	blood:	n/a	n/a
6	POLR2A	chr6:13622419-13622959	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr6:13621910-13623840	K562	blood:	n/a	n/a
8	POLR2A	chr6:13622527-13623002	GM12892	blood:	n/a	n/a
9	POLR2A	chr6:13622500-13622706	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:13622421-13622830	GM12891	blood:	n/a	n/a
11	POLR2A	chr6:13622429-13623345	K562	blood:	n/a	n/a
12	POLR2A	chr6:13621968-13622876	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:13622484-13622691	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:13622313-13623847	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr6:13621729-13623872	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:13622511-13622766	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr6:13622448-13622753	HL-60	blood:	n/a	n/a
18	POLR2A	chr6:13622427-13622765	GM12891	blood:	n/a	n/a
19	POLR2A	chr6:13622586-13622687	A549	lung:	n/a	n/a
20	POLR2A	chr6:13622373-13622744	GM12892	blood:	n/a	n/a
21	POLR2A	chr6:13622576-13622750	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr6:13622531-13622808	K562	blood:	n/a	n/a
23	POLR2A	chr6:13622020-13622821	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:13620335-13625596	HepG2	liver:	n/a	n/a
25	POLR2A	chr6:13622735-13622935	GM12892	blood:	n/a	n/a
26	POLR2A	chr6:13621917-13622913	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr6:13622479-13622751	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr6:13622430-13623365	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr6:13622474-13623080	HepG2	liver:	n/a	n/a
30	POLR2A	chr6:13621941-13622363	K562	blood:	n/a	n/a
31	POLR2A	chr6:13621995-13622754	MCF-7	breast:	n/a	n/a
32	POLR2A	chr6:13621961-13623322	K562	blood:	n/a	n/a
33	POLR2A	chr6:13621964-13623911	GM12891	blood:	n/a	n/a
34	POLR2A	chr6:13618693-13627590	K562	blood:	n/a	n/a
35	POLR2A	chr6:13622762-13622937	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:13622245..13624613-chr6:13641011..13644598,3	K562	blood:
2	chr6:13572897..13576165-chr6:13620913..13622919,3	K562	blood:
3	chr6:13614941..13617612-chr6:13622081..13626001,4	MCF-7	breast:
4	chr6:13621337..13626470-chr6:13709829..13716449,7	K562	blood:
5	chr6:13621824..13622531-chr6:13711504..13712030,2	MCF-7	breast:
6	chr6:13622436..13626191-chr6:13709343..13710896,3	MCF-7	breast:
7	chr6:13621845..13624012-chr6:13637610..13640298,2	MCF-7	breast:
8	chr6:13572897..13576165-chr6:13619318..13622919,5	K562	blood:
9	chr6:13621263..13622837-chr6:13709836..13712704,2	K562	blood:
10	chr6:13621813..13624606-chr6:13711538..13713160,2	MCF-7	breast:
11	chr6:13622285..13628716-chr6:13632838..13638490,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268059	TF binding region
ENSG00000124523	chromatin interactions
ENSG00000010017	chromatin interactions
ENSG00000225921	chromatin interactions
ENSG00000261071	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538793199	chr6:13622370-13622371	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs559020705	chr6:13622418-13622419	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs61474580	chr6:13622431-13622432	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs35154980	chr6:13622438-13622439	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs572415603	chr6:13622464-13622465	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs192334218	chr6:13622553-13622554	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs115719968	chr6:13622567-13622568	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs201118974	chr6:13622591-13622592	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs184285677	chr6:13622613-13622614	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs375504162	chr6:13622627-13622628	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs562517476	chr6:13622646-13622647	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs200540747	chr6:13622667-13622668	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs544635680	chr6:13622715-13622716	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs112516735	chr6:13622721-13622722	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs369791365	chr6:13622727-13622728	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs199638648	chr6:13622741-13622742	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs367639789	chr6:13622785-13622786	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs547994951	chr6:13622789-13622790	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
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
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13616600-13624200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:13616600-13637400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:13617000-13622800	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr6:13617000-13628200	Strong transcription	Fetal Muscle Leg	muscle
5	chr6:13617000-13633000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr6:13617200-13622800	Strong transcription	Fetal Kidney	kidney
7	chr6:13617200-13623400	Strong transcription	Fetal Stomach	stomach
8	chr6:13617200-13623600	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr6:13617200-13623800	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr6:13617200-13624000	Strong transcription	Brain Anterior Caudate	brain
11	chr6:13617200-13624600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:13617200-13625000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:13617200-13626000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:13617200-13627200	Strong transcription	NH-A	brain
15	chr6:13617200-13627600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:13617200-13632800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr6:13617200-13632800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr6:13617200-13633800	Weak transcription	Stomach Mucosa	stomach
19	chr6:13617200-13634600	Strong transcription	Placenta	Placenta
20	chr6:13617200-13634800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:13617200-13634800	Strong transcription	Fetal Intestine Large	intestine
22	chr6:13617200-13638800	Weak transcription	Aorta	Aorta
23	chr6:13617400-13622800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:13617400-13622800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:13617400-13625400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:13617400-13625400	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:13617400-13625600	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:13617400-13627600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr6:13617400-13627600	Strong transcription	HSMMtube	muscle
30	chr6:13617400-13630400	Strong transcription	Primary B cells from cord blood	blood
31	chr6:13617400-13636400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:13617600-13623000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:13617600-13624000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:13617600-13626000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:13617600-13626000	Strong transcription	NHEK	skin
36	chr6:13617600-13627000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:13617600-13627400	Strong transcription	Left Ventricle	heart
38	chr6:13617600-13627600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:13617600-13627800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:13617600-13632000	Strong transcription	Adipose Nuclei	Adipose
41	chr6:13617600-13632800	Strong transcription	Primary hematopoietic stem cells	blood
42	chr6:13617600-13633000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr6:13617600-13634600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:13617600-13634800	Strong transcription	Primary T cells from cord blood	blood
45	chr6:13617600-13635400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr6:13617600-13642200	Strong transcription	Fetal Thymus	thymus
47	chr6:13617600-13642200	Strong transcription	HSMM	muscle
48	chr6:13617600-13642400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:13617800-13623400	Strong transcription	Ovary	ovary
50	chr6:13617800-13623600	Strong transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links