Variant report

Variant	rs13148395
Chromosome Location	chr4:6987003-6987004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr4:6986831-6987133	MCF10A-Er-Src	breast:	n/a	n/a
2	CUX1	chr4:6986911-6987045	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:6986481-6987144	K562	blood:	n/a	n/a
4	POLR2A	chr4:6986599-6987557	MCF10A-Er-Src	breast:	n/a	n/a
5	JUND	chr4:6986963-6987010	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6909306..6913096-chr4:6986692..6990153,8	K562	blood:
2	chr4:6980739..6983289-chr4:6985192..6987029,3	K562	blood:
3	chr4:6985775..6987930-chr4:7003466..7005254,2	MCF-7	breast:
4	chr4:6964388..6966131-chr4:6985503..6987290,2	K562	blood:
5	chr4:6981170..6985080-chr4:6985804..6988739,4	MCF-7	breast:
6	chr4:6979186..6983074-chr4:6985701..6987912,3	K562	blood:

No data

Variant related genes	Relation type
TBC1D14	TF binding region
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10012590	1.00[ASN][1000 genomes]
rs10025310	1.00[ASN][1000 genomes]
rs10516181	0.81[ASN][1000 genomes]
rs10937776	0.81[ASN][1000 genomes]
rs11732898	0.81[ASN][1000 genomes]
rs11938701	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11944897	1.00[ASN][1000 genomes]
rs12502513	0.81[ASN][1000 genomes]
rs12503027	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12510715	0.81[ASN][1000 genomes]
rs12512484	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13107989	1.00[ASN][1000 genomes]
rs13108082	0.86[ASN][1000 genomes]
rs13111887	0.86[ASN][1000 genomes]
rs13122119	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13149411	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13149923	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2301817	1.00[ASN][1000 genomes]
rs2301818	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2301819	0.93[ASN][1000 genomes]
rs2359194	0.81[ASN][1000 genomes]
rs3188939	1.00[ASN][1000 genomes]
rs34219101	0.86[ASN][1000 genomes]
rs34221933	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34335938	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34379427	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34463709	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34481892	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34860182	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34953654	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34959511	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34990775	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35170004	0.93[ASN][1000 genomes]
rs35680216	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3857171	0.81[ASN][1000 genomes]
rs3892490	0.86[ASN][1000 genomes]
rs3894945	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4234788	0.86[ASN][1000 genomes]
rs4234791	0.93[ASN][1000 genomes]
rs4234793	1.00[ASN][1000 genomes]
rs4544710	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689056	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4689560	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4689563	0.93[ASN][1000 genomes]
rs4689564	0.93[ASN][1000 genomes]
rs4689565	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4689566	0.81[ASN][1000 genomes]
rs4689567	0.81[ASN][1000 genomes]
rs4689568	0.81[ASN][1000 genomes]
rs4689573	0.81[ASN][1000 genomes]
rs4689575	1.00[ASN][1000 genomes]
rs4689577	0.81[ASN][1000 genomes]
rs4689579	0.93[ASN][1000 genomes]
rs55822670	0.86[ASN][1000 genomes]
rs62289166	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6446559	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs66530709	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66640699	0.93[ASN][1000 genomes]
rs66841627	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66931928	0.93[ASN][1000 genomes]
rs66992702	0.93[ASN][1000 genomes]
rs6811496	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6816660	0.86[ASN][1000 genomes]
rs6816882	0.86[ASN][1000 genomes]
rs6818744	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6831129	0.86[ASN][1000 genomes]
rs6834102	1.00[ASN][1000 genomes]
rs6840780	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854776	1.00[ASN][1000 genomes]
rs7655563	0.81[ASN][1000 genomes]
rs7655773	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7658198	0.86[ASN][1000 genomes]
rs7661462	0.86[ASN][1000 genomes]
rs7661952	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7673901	1.00[ASN][1000 genomes]
rs7675524	0.81[ASN][1000 genomes]
rs7685667	1.00[ASN][1000 genomes]
rs7693321	0.81[ASN][1000 genomes]
rs9291126	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6965400-6987800	Weak transcription	Small Intestine	intestine
2	chr4:6968000-6987600	Weak transcription	HSMM	muscle
3	chr4:6970800-6987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:6976200-6987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:6976400-6987800	Weak transcription	Fetal Thymus	thymus
6	chr4:6976600-6987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:6976600-6987600	Weak transcription	Thymus	Thymus
8	chr4:6982200-6987200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:6985000-6987800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr4:6985000-6987800	Enhancers	Primary B cells from peripheral blood	blood
11	chr4:6985200-6987200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:6985200-6987200	Enhancers	K562	blood
13	chr4:6985200-6987400	Enhancers	Liver	Liver
14	chr4:6985200-6987400	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr4:6985200-6987600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:6985200-6987800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:6985400-6987600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr4:6985400-6987600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:6985600-6987600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:6985600-6987600	Enhancers	Adipose Nuclei	Adipose
21	chr4:6985600-6987600	Enhancers	Fetal Intestine Large	intestine
22	chr4:6985800-6987400	Enhancers	Duodenum Mucosa	Duodenum
23	chr4:6985800-6987600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr4:6985800-6987800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr4:6986000-6987200	Enhancers	Dnd41	blood
26	chr4:6986000-6987400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:6986000-6987400	Enhancers	Brain Substantia Nigra	brain
28	chr4:6986000-6987400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr4:6986000-6987400	Enhancers	HUVEC	blood vessel
30	chr4:6986000-6987600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr4:6986000-6987600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr4:6986000-6987600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:6986000-6987600	Enhancers	Fetal Heart	heart
34	chr4:6986000-6987800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr4:6986000-6987800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:6986000-6988000	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr4:6986200-6987200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:6986200-6987400	Enhancers	Fetal Intestine Small	intestine
39	chr4:6986200-6987600	Enhancers	Primary T cells from cord blood	blood
40	chr4:6986200-6987600	Weak transcription	Aorta	Aorta
41	chr4:6986200-6987600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr4:6986200-6987800	Weak transcription	Esophagus	oesophagus
43	chr4:6986400-6987200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:6986400-6987200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:6986400-6987200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:6986400-6987200	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr4:6986400-6987200	Enhancers	A549	lung
48	chr4:6986400-6987400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr4:6986400-6987400	Flanking Active TSS	Fetal Brain Male	brain
50	chr4:6986400-6987600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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