Variant report

Variant	esv3529122
Chromosome Location	chr6:149946259-149950757
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr6:149949987-149950716	GM12878	blood:	n/a	n/a
2	BHLHE40	chr6:149950192-149950670	GM12878	blood:	n/a	n/a
3	CTCF	chr6:149950400-149950550	GM12864	blood:	n/a	n/a
4	CTCF	chr6:149950380-149950530	WERI-Rb-1	eye:	n/a	n/a
5	CTCF	chr6:149950390-149950585	HepG2	liver:	n/a	n/a
6	CTCF	chr6:149950420-149950570	GM12864	blood:	n/a	n/a
7	CTCF	chr6:149950420-149950570	GM06990	blood:	n/a	n/a
8	CTCF	chr6:149950460-149950610	NHEK	skin:	n/a	n/a
9	CTCF	chr6:149950362-149950672	GM12878	blood:	n/a	n/a
10	CTCF	chr6:149950460-149950610	GM12875	blood:	n/a	n/a
11	CTCF	chr6:149950488-149950575	MCF-7	breast:	n/a	n/a
12	CTCF	chr6:149950458-149950558	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:149950482-149950591	NHEK	skin:	n/a	n/a
14	CTCF	chr6:149950455-149950610	GM19238	blood:	n/a	n/a
15	CTCF	chr6:149950488-149950531	MCF-7	breast:	n/a	n/a
16	CTCF	chr6:149950483-149950486	MCF-7	breast:	n/a	n/a
17	CTCF	chr6:149950511-149950550	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:149950443-149950550	GM13977	blood:	n/a	n/a
19	CTCF	chr6:149950495-149950568	GM19239	blood:	n/a	n/a
20	CTCF	chr6:149950500-149950650	GM12878	blood:	n/a	n/a
21	CTCF	chr6:149950380-149950530	GM12874	blood:	n/a	n/a
22	CTCF	chr6:149950480-149950630	GM06990	blood:	n/a	n/a
23	CTCF	chr6:149950400-149950550	GM12873	blood:	n/a	n/a
24	CTCF	chr6:149950380-149950530	GM12871	blood:	n/a	n/a
25	CTCF	chr6:149950474-149950584	GM19240	blood:	n/a	n/a
26	CTCF	chr6:149950440-149950590	HEEpiC	esophagus:	n/a	n/a
27	CTCF	chr6:149950486-149950593	GM12891	blood:	n/a	n/a
28	CTCF	chr6:149950440-149950590	HMEC	breast:	n/a	n/a
29	CTCF	chr6:149950500-149950637	K562	blood:	n/a	n/a
30	CTCF	chr6:149950480-149950630	GM12871	blood:	n/a	n/a
31	CTCF	chr6:149950422-149950597	GM12878	blood:	n/a	n/a
32	CTCF	chr6:149950380-149950530	HMEC	breast:	n/a	n/a
33	CTCF	chr6:149950454-149950601	GM12892	blood:	n/a	n/a
34	CTCF	chr6:149950360-149950510	GM12878	blood:	n/a	n/a
35	CTCF	chr6:149950420-149950570	GM12873	blood:	n/a	n/a
36	EP300	chr6:149950134-149950624	GM12878	blood:	n/a	chr6:149950142-149950156
37	FOS	chr6:149950446-149950555	MCF10A-Er-Src	breast:	n/a	n/a
38	IKZF1	chr6:149950035-149950524	GM12878	blood:	n/a	n/a
39	MTA3	chr6:149949970-149950731	GM12878	blood:	n/a	n/a
40	NFIC	chr6:149949960-149950743	GM12878	blood:	n/a	n/a
41	PAX5	chr6:149950402-149950690	GM12878	blood:	n/a	n/a
42	POLR2A	chr6:149948978-149949183	K562	blood:	n/a	n/a
43	POLR2A	chr6:149950357-149950747	K562	blood:	n/a	n/a
44	POLR2A	chr6:149948333-149948445	ProgFib	skin:	n/a	n/a
45	POLR2A	chr6:149948878-149948999	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr6:149948941-149949043	MCF-7	breast:	n/a	n/a
47	RCOR1	chr6:149950116-149950666	GM12878	blood:	n/a	n/a
48	RUNX3	chr6:149950026-149950762	GM12878	blood:	n/a	n/a
49	RUNX3	chr6:149950043-149950721	GM12878	blood:	n/a	n/a
50	SMC3	chr6:149950425-149950625	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149948922..149951262-chr6:149954918..149957641,2	K562	blood:
2	chr6:149947351..149949049-chr6:149966233..149969059,2	K562	blood:
3	chr6:149950061..149951904-chr6:149964995..149967611,2	MCF-7	breast:
4	chr6:149947741..149950535-chr6:149952808..149954570,2	MCF-7	breast:
5	chr6:149946699..149949049-chr6:149967559..149970379,2	K562	blood:

No data

Variant related genes	Relation type
KATNA1	TF binding region
ENSG00000207292	TF binding region
ENSG00000186625	chromatin interactions

Extended variants
information (count: 171 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191663731	chr6:149946289-149946290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73606739	chr6:149946381-149946382	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556112799	chr6:149946407-149946408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576043995	chr6:149946418-149946419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544896681	chr6:149946424-149946425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2064521	chr6:149946472-149946473	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs577453715	chr6:149946492-149946493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577554018	chr6:149946493-149946494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540330195	chr6:149946498-149946499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184938520	chr6:149946504-149946505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150835362	chr6:149946531-149946532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139252126	chr6:149946537-149946538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562326774	chr6:149946546-149946547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149543242	chr6:149946563-149946564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551252614	chr6:149946611-149946612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373705733	chr6:149946624-149946625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367833515	chr6:149946627-149946628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533131320	chr6:149946637-149946638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376208456	chr6:149946660-149946661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189857609	chr6:149946682-149946683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560368942	chr6:149946685-149946686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566819287	chr6:149946741-149946742	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73006871	chr6:149946767-149946768	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532682261	chr6:149946800-149946801	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556022623	chr6:149946804-149946805	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559843233	chr6:149946807-149946808	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144124036	chr6:149946814-149946815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371670759	chr6:149946836-149946837	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538575776	chr6:149946842-149946843	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558449760	chr6:149947011-149947012	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113931206	chr6:149947019-149947020	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181569442	chr6:149947027-149947028	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs185351497	chr6:149947031-149947032	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553845841	chr6:149947056-149947057	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs144433227	chr6:149947057-149947058	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200316485	chr6:149947070-149947071	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189410449	chr6:149947093-149947094	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562384753	chr6:149947096-149947097	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575792505	chr6:149947125-149947126	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182015707	chr6:149947185-149947186	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114268002	chr6:149947213-149947214	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs147812355	chr6:149947248-149947249	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546714165	chr6:149947264-149947265	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560518100	chr6:149947265-149947266	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529411428	chr6:149947283-149947284	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139571405	chr6:149947350-149947351	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368044755	chr6:149947370-149947371	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs544379629	chr6:149947428-149947429	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548769394	chr6:149947491-149947492	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538391837	chr6:149947500-149947501	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149915600-149968400	Weak transcription	Pancreas	Pancrea
2	chr6:149915600-149969200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:149915800-149969200	Weak transcription	Gastric	stomach
4	chr6:149916400-149950200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr6:149918400-149950200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:149918800-149967600	Weak transcription	HUVEC	blood vessel
7	chr6:149918800-149967600	Weak transcription	NHLF	lung
8	chr6:149919400-149949000	Weak transcription	Osteobl	bone
9	chr6:149923000-149952200	Weak transcription	NH-A	brain
10	chr6:149923400-149947600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:149924800-149967400	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:149924800-149968000	Weak transcription	Fetal Kidney	kidney
13	chr6:149925200-149967000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:149935000-149967000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:149935200-149959200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:149935200-149966200	Weak transcription	Hela-S3	cervix
17	chr6:149935200-149967800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:149935200-149968000	Weak transcription	Brain Angular Gyrus	brain
19	chr6:149935200-149969000	Weak transcription	Small Intestine	intestine
20	chr6:149935400-149948200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:149935400-149948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:149935400-149948800	Weak transcription	Psoas Muscle	Psoas
23	chr6:149935400-149958200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:149935400-149968000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:149935600-149948400	Weak transcription	Brain Anterior Caudate	brain
26	chr6:149935600-149968000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:149935600-149968400	Weak transcription	Esophagus	oesophagus
28	chr6:149935800-149968600	Weak transcription	Aorta	Aorta
29	chr6:149936000-149948800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:149936000-149967000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:149936000-149967200	Weak transcription	HMEC	breast
32	chr6:149936000-149968000	Weak transcription	Right Ventricle	heart
33	chr6:149936200-149948800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:149936800-149969000	Weak transcription	Lung	lung
35	chr6:149937400-149968000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:149938400-149960800	Weak transcription	Fetal Heart	heart
37	chr6:149939600-149946400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:149940000-149958400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:149940200-149954200	Strong transcription	Dnd41	blood
40	chr6:149940400-149950000	Strong transcription	Fetal Stomach	stomach
41	chr6:149940600-149946600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr6:149941200-149956400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:149941400-149953600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr6:149941400-149967600	Weak transcription	Brain Substantia Nigra	brain
45	chr6:149941400-149967600	Weak transcription	Fetal Brain Male	brain
46	chr6:149941400-149968000	Weak transcription	Brain Hippocampus Middle	brain
47	chr6:149942200-149950000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr6:149942200-149950000	Weak transcription	Fetal Lung	lung
49	chr6:149942200-149967600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr6:149942800-149954000	Strong transcription	Primary T cells fromperipheralblood	blood

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