Variant report

Variant	rs13122119
Chromosome Location	chr4:6918074-6918075
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6737062..6739942-chr4:6916966..6919551,2	MCF-7	breast:
2	chr4:6916484..6919201-chr4:7044719..7046815,2	K562	blood:
3	chr4:6916306..6918370-chr4:6943424..6946324,3	K562	blood:
4	chr4:6694215..6696460-chr4:6916906..6919044,2	MCF-7	breast:
5	chr4:6917607..6919968-chr4:7075757..7078476,3	K562	blood:
6	chr4:6750069..6752754-chr4:6918064..6920984,3	MCF-7	breast:
7	chr4:6891115..6895158-chr4:6915729..6918708,4	K562	blood:
8	chr4:6716043..6719263-chr4:6915351..6918463,3	K562	blood:
9	chr4:6917201..6921579-chr4:6924492..6930074,6	MCF-7	breast:
10	chr4:6917668..6920987-chr4:6945472..6948090,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173013	Chromatin interaction
ENSG00000186222	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000163993	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[CHB][hapmap];0.83[CHD][hapmap];0.93[ASN][1000 genomes]
rs10025310	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs10937772	0.82[ASN][1000 genomes]
rs10937774	1.00[CHB][hapmap]
rs11732898	1.00[CHB][hapmap];0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs11938701	0.93[ASN][1000 genomes]
rs11944897	0.93[ASN][1000 genomes]
rs12502513	1.00[CHB][hapmap]
rs12503027	0.93[ASN][1000 genomes]
rs12510715	0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs12512484	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13107989	0.93[ASN][1000 genomes]
rs13108082	0.93[ASN][1000 genomes]
rs13111887	0.93[ASN][1000 genomes]
rs13115245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13148395	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13149411	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13149923	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2301817	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs2301818	0.83[CHD][hapmap];0.91[TSI][hapmap];0.86[ASN][1000 genomes]
rs2301819	0.83[CHD][hapmap];0.86[ASN][1000 genomes]
rs3188939	1.00[CHB][hapmap];0.83[CHD][hapmap];0.93[ASN][1000 genomes]
rs34219101	0.80[ASN][1000 genomes]
rs34221933	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34335938	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34379427	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34463709	0.81[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34481892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34860182	0.81[AFR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34953654	0.81[AFR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34959511	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34990775	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35170004	1.00[ASN][1000 genomes]
rs35680216	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3892490	1.00[CHB][hapmap];0.83[CHD][hapmap];0.80[ASN][1000 genomes]
rs3894945	0.93[ASN][1000 genomes]
rs4234788	0.93[ASN][1000 genomes]
rs4234791	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4234793	0.93[ASN][1000 genomes]
rs4296677	0.82[ASN][1000 genomes]
rs4458452	0.82[ASN][1000 genomes]
rs4544710	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs4645214	0.82[ASN][1000 genomes]
rs4689056	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4689059	0.83[CHD][hapmap]
rs4689560	1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4689563	1.00[ASN][1000 genomes]
rs4689564	1.00[ASN][1000 genomes]
rs4689565	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689566	0.87[ASN][1000 genomes]
rs4689567	0.87[ASN][1000 genomes]
rs4689568	1.00[CHB][hapmap];0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs4689575	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs4689579	0.86[ASN][1000 genomes]
rs55822670	0.80[ASN][1000 genomes]
rs62289166	0.93[ASN][1000 genomes]
rs6446559	0.80[ASN][1000 genomes]
rs66530709	0.81[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66640699	1.00[ASN][1000 genomes]
rs66841627	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66931928	1.00[ASN][1000 genomes]
rs66992702	1.00[ASN][1000 genomes]
rs6811496	0.93[ASN][1000 genomes]
rs6816660	0.93[ASN][1000 genomes]
rs6816882	0.80[ASN][1000 genomes]
rs6818744	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6831129	0.80[ASN][1000 genomes]
rs6834102	0.93[ASN][1000 genomes]
rs6840780	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6854776	1.00[CHB][hapmap];0.83[CHD][hapmap];0.93[ASN][1000 genomes]
rs7655563	1.00[CHB][hapmap]
rs7655773	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7658198	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs7661462	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs7661952	1.00[CHB][hapmap];0.87[TSI][hapmap];0.93[ASN][1000 genomes]
rs7673901	0.93[ASN][1000 genomes]
rs7675524	1.00[CHB][hapmap];0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs7685667	0.93[ASN][1000 genomes]
rs9291126	0.80[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	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6912600-6920000	Weak transcription	HSMM	muscle
2	chr4:6912600-6925400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:6912800-6918200	Weak transcription	NH-A	brain
4	chr4:6912800-6918200	Weak transcription	NHEK	skin
5	chr4:6913000-6918200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:6913000-6918200	Weak transcription	Fetal Heart	heart
7	chr4:6913000-6918200	Weak transcription	A549	lung
8	chr4:6913000-6918400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:6913000-6918400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr4:6913000-6918400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr4:6913000-6918400	Weak transcription	Ovary	ovary
12	chr4:6913000-6918400	Weak transcription	HSMMtube	muscle
13	chr4:6913200-6918200	Weak transcription	Fetal Brain Female	brain
14	chr4:6913200-6919000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:6913200-6922600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:6913200-6925200	Weak transcription	NHLF	lung
17	chr4:6913400-6918200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:6913400-6918200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr4:6913400-6918200	Weak transcription	Fetal Brain Male	brain
20	chr4:6913400-6918400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:6913400-6918400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:6913400-6918400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:6913600-6918200	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:6913600-6918400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr4:6913600-6918400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:6913600-6918400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:6913600-6918400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr4:6913600-6920000	Enhancers	Liver	Liver
29	chr4:6913600-6920200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:6914200-6918200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr4:6914400-6918200	Weak transcription	Hela-S3	cervix
32	chr4:6914400-6919600	Weak transcription	Dnd41	blood
33	chr4:6914600-6918200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:6914600-6918200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:6914600-6918200	Weak transcription	Brain Substantia Nigra	brain
36	chr4:6914600-6918200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:6914600-6918400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:6915000-6918400	Weak transcription	Right Atrium	heart
39	chr4:6915200-6920400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:6915200-6920800	Enhancers	Fetal Intestine Large	intestine
41	chr4:6915800-6919000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:6915800-6921200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:6915800-6921400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr4:6916200-6919600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:6916400-6918400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr4:6916400-6920800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr4:6916800-6918200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr4:6916800-6918200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:6916800-6918400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr4:6916800-6918600	Enhancers	Primary hematopoietic stem cells	blood

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