Variant report

Variant	esv1849820
Chromosome Location	chr6:29813519-29816533
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	chr6:29815528..29816550-chr6:29935117..29936165,4	MCF-7	breast:
2	chr6:29815519..29816578-chr6:29980839..29982014,6	MCF-7	breast:
3	chr6:29815601..29816421-chr6:30004834..30005555,3	MCF-7	breast:
4	chr6:29814850..29816996-chr6:29980272..29982111,2	MCF-7	breast:
5	chr6:29815548..29816170-chr6:30137547..30138377,2	K562	blood:
6	chr6:29720902..29721504-chr6:29815550..29816084,2	K562	blood:
7	chr6:29815484..29816856-chr6:30098503..30099361,8	K562	blood:
8	chr6:29815002..29816640-chr6:29980850..29981857,19	MCF-7	breast:
9	chr1:156186248..156187894-chr6:29816418..29817920,2	MCF-7	breast:
10	chr6:29815545..29816511-chr6:30004700..30005650,3	MCF-7	breast:
11	chr6:29815502..29816513-chr6:29980468..29982151,21	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204610	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184495221	chr6:29815549-29815550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs28993600	chr6:29815550-29815551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs3094179	chr6:29815571-29815572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112461612	chr6:29815576-29815577	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556579654	chr6:29815597-29815598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs28721723	chr6:29815607-29815608	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs73747723	chr6:29815609-29815610	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs374092457	chr6:29815636-29815637	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs3128912	chr6:29815637-29815638	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs28721736	chr6:29815638-29815639	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559820319	chr6:29815694-29815695	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564086292	chr6:29815704-29815705	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs3115629	chr6:29815713-29815714	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs6902658	chr6:29815732-29815733	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs6922605	chr6:29815744-29815745	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs9258566	chr6:29815754-29815755	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs376338223	chr6:29815772-29815773	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs6922901	chr6:29815787-29815788	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568641358	chr6:29815803-29815804	Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527925968	chr6:29815806-29815807	Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs28721806	chr6:29815841-29815842	Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571193782	chr6:29815872-29815873	Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540114116	chr6:29815903-29815904	Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115047626	chr6:29815963-29815964	Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561589704	chr6:29815964-29815965	Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569918628	chr6:29815971-29815972	Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2894118	chr6:29815984-29815985	Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs28743472	chr6:29815992-29815993	Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140232309	chr6:29815999-29816000	Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs28743475	chr6:29816003-29816004	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2394183	chr6:29816010-29816011	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs6923284	chr6:29816034-29816035	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs28743497	chr6:29816095-29816096	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573509702	chr6:29816122-29816123	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs150953661	chr6:29816140-29816141	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527953228	chr6:29816201-29816202	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs528171633	chr6:29816243-29816244	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs2394184	chr6:29816282-29816283	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs62392521	chr6:29816289-29816290	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs28743576	chr6:29816310-29816311	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs558899043	chr6:29816349-29816350	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs2394185	chr6:29816371-29816372	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs2394186	chr6:29816421-29816422	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs528947540	chr6:29816450-29816451	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28743648	chr6:29816495-29816496	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566077716	chr6:29816496-29816497	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534774654	chr6:29816530-29816531	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	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
Ovarian cancer	21781307	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
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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29815600-29815800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:29815600-29815800	Bivalent Enhancer	Brain Anterior Caudate	brain
3	chr6:29815600-29816000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
4	chr6:29815600-29816000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
5	chr6:29815600-29816200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
6	chr6:29815600-29816200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:29815600-29816200	Bivalent Enhancer	Brain Hippocampus Middle	brain
8	chr6:29815600-29816400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr6:29815800-29816000	Bivalent Enhancer	Colonic Mucosa	Colon
10	chr6:29815800-29816000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
11	chr6:29815800-29816200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
12	chr6:29815800-29816200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
13	chr6:29815800-29816200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
14	chr6:29815800-29816200	Bivalent Enhancer	Brain Substantia Nigra	brain
15	chr6:29815800-29817800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:29816000-29816200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr6:29816000-29816200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
18	chr6:29816000-29816200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:29816000-29816200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
20	chr6:29816000-29816200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:29816000-29816200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
22	chr6:29816000-29816200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
23	chr6:29816000-29816200	Bivalent Enhancer	Liver	Liver
24	chr6:29816000-29816200	Bivalent Enhancer	Brain Angular Gyrus	brain
25	chr6:29816000-29816200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
26	chr6:29816000-29816200	Enhancers	Esophagus	oesophagus
27	chr6:29816000-29816200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr6:29816000-29816200	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr6:29816000-29816200	Bivalent Enhancer	Placenta	Placenta
30	chr6:29816000-29816200	Enhancers	Gastric	stomach
31	chr6:29816000-29816200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
32	chr6:29816000-29816400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:29816000-29816400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
34	chr6:29816000-29816400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
35	chr6:29816200-29816400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
36	chr6:29816200-29816400	Bivalent Enhancer	Fetal Brain Male	brain
37	chr6:29816200-29816600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:29816200-29816600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:29816200-29817000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
40	chr6:29816200-29818000	Weak transcription	Gastric	stomach

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