Variant report

Variant	esv3361903
Chromosome Location	chr6:15736223-15739621
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	chr6:15733392..15737807-chr6:16127623..16131334,6	K562	blood:
2	chr6:15691679..15692211-chr6:15736266..15736989,2	K562	blood:
3	chr6:15736277..15738090-chr6:15744197..15746726,2	K562	blood:
4	chr6:15733339..15738209-chr6:16127623..16132643,9	K562	blood:
5	chr6:15739334..15746702-chr6:16128002..16131195,9	K562	blood:
6	chr6:15734164..15736445-chr6:16129728..16131234,2	MCF-7	breast:
7	chr6:15739404..15741557-chr6:15764680..15767519,2	K562	blood:
8	chr6:15727790..15730046-chr6:15735251..15736954,2	K562	blood:
9	chr6:15738603..15741543-chr6:15742364..15744974,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000007944	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556826684	chr6:15736224-15736225	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs115410098	chr6:15736241-15736242	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150087559	chr6:15736342-15736343	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558320503	chr6:15736422-15736423	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115385990	chr6:15736433-15736434	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540665869	chr6:15736435-15736436	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189320355	chr6:15736493-15736494	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12530267	chr6:15736512-15736513	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543278835	chr6:15736718-15736719	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375683592	chr6:15736785-15736786	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs34000024	chr6:15736786-15736787	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563520529	chr6:15736798-15736799	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs74418660	chr6:15736804-15736805	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529909214	chr6:15736816-15736817	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545495348	chr6:15736857-15736858	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565277996	chr6:15736878-15736879	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527786567	chr6:15736907-15736908	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs180860562	chr6:15736924-15736925	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185883748	chr6:15736967-15736968	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530431030	chr6:15737023-15737024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190259555	chr6:15737071-15737072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs35006346	chr6:15737129-15737130	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370001053	chr6:15737140-15737141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs542094810	chr6:15737151-15737152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564262783	chr6:15737305-15737306	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538815481	chr6:15737352-15737353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563605823	chr6:15737361-15737362	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565684082	chr6:15737434-15737435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541466576	chr6:15737571-15737572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs114886622	chr6:15737572-15737573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528739785	chr6:15737591-15737592	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574067559	chr6:15737683-15737684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147782902	chr6:15737690-15737691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556937288	chr6:15737714-15737715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs181137774	chr6:15737724-15737725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186177731	chr6:15737781-15737782	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs559479721	chr6:15737810-15737811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141139804	chr6:15737847-15737848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs191741644	chr6:15737855-15737856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541500160	chr6:15737869-15737870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528589824	chr6:15737884-15737885	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561285591	chr6:15738009-15738010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530066595	chr6:15738010-15738011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs113565623	chr6:15738013-15738014	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs2769566	chr6:15738018-15738019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12214464	chr6:15738019-15738020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189007547	chr6:15738053-15738054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs552523502	chr6:15738062-15738063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs190957618	chr6:15738070-15738071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534433119	chr6:15738072-15738073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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
Breast cancer	17133270	CNVD
Autism	22495311	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
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17142309	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian cancer	20844748	CNVD
Developmental delay	19490664	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15733400-15737600	Enhancers	Fetal Heart	heart
2	chr6:15733800-15736800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:15733800-15736800	Enhancers	Fetal Thymus	thymus
4	chr6:15733800-15736800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr6:15734000-15736400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:15734200-15736600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:15734800-15737600	Enhancers	Fetal Intestine Small	intestine
8	chr6:15735400-15736400	Enhancers	HepG2	liver
9	chr6:15735400-15737000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:15735600-15736400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:15735600-15736400	Enhancers	Hela-S3	cervix
12	chr6:15735600-15736800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:15735600-15737000	Enhancers	Pancreas	Pancrea
14	chr6:15735600-15737400	Enhancers	Fetal Intestine Large	intestine
15	chr6:15735800-15736400	Enhancers	Primary T cells from cord blood	blood
16	chr6:15735800-15736400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr6:15735800-15736400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr6:15735800-15736400	Enhancers	HMEC	breast
19	chr6:15735800-15736600	Enhancers	Stomach Mucosa	stomach
20	chr6:15735800-15736800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:15735800-15736800	Enhancers	Gastric	stomach
22	chr6:15735800-15737000	Enhancers	GM12878-XiMat	blood
23	chr6:15735800-15737000	Flanking Active TSS	K562	blood
24	chr6:15736000-15736400	Enhancers	NH-A	brain
25	chr6:15736000-15736800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:15736000-15736800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:15736000-15736800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr6:15736200-15736400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:15736200-15736800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:15736200-15736800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr6:15736200-15736800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:15736400-15736800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:15736400-15737000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:15736400-15737000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:15736600-15736800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:15736600-15736800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr6:15736600-15736800	Enhancers	Left Ventricle	heart
38	chr6:15736600-15737000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr6:15736800-15739200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:15736800-15739800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:15736800-15740000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:15737000-15737600	Enhancers	K562	blood
43	chr6:15737000-15739800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr6:15737000-15745400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:15739200-15740600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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