Variant report

Variant	rs6749079
Chromosome Location	chr2:47286690-47286691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47285787..47290884-chr2:47401621..47403774,5	K562	blood:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10174635	0.83[AMR][1000 genomes]
rs10191558	1.00[AMR][1000 genomes]
rs17036191	0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28708409	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs60472761	0.95[AFR][1000 genomes]
rs61089798	0.90[AFR][1000 genomes]
rs6708855	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6733891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73926706	0.82[AFR][1000 genomes]
rs919878	0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs919879	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv525197	chr2:47210747-47297973	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv984437	chr2:47270533-47307361	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv873998	chr2:47273732-47313624	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47230200-47302800	Strong transcription	Dnd41	blood
2	chr2:47259600-47295000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:47270800-47296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:47272200-47292000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:47274800-47292800	Weak transcription	Hela-S3	cervix
6	chr2:47278600-47290800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:47279800-47289000	Weak transcription	NHEK	skin
8	chr2:47280000-47287800	Weak transcription	HMEC	breast
9	chr2:47281400-47286800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:47281600-47287600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:47282000-47293400	Enhancers	Brain Substantia Nigra	brain
12	chr2:47282200-47286800	Genic enhancers	NHLF	lung
13	chr2:47282200-47287000	Enhancers	Left Ventricle	heart
14	chr2:47282200-47288000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:47282400-47286800	Genic enhancers	Fetal Stomach	stomach
16	chr2:47282400-47286800	Enhancers	HSMMtube	muscle
17	chr2:47282400-47288000	Enhancers	Brain Angular Gyrus	brain
18	chr2:47282400-47289800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:47282600-47286800	Enhancers	Right Ventricle	heart
20	chr2:47282600-47287000	Enhancers	Adipose Nuclei	Adipose
21	chr2:47282600-47288000	Enhancers	Brain Hippocampus Middle	brain
22	chr2:47282800-47286800	Enhancers	Brain Anterior Caudate	brain
23	chr2:47282800-47286800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:47282800-47287000	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:47283000-47286800	Genic enhancers	Fetal Thymus	thymus
26	chr2:47283000-47286800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr2:47283000-47287000	Enhancers	Colonic Mucosa	Colon
28	chr2:47284000-47287200	Enhancers	HepG2	liver
29	chr2:47284000-47287800	Weak transcription	Aorta	Aorta
30	chr2:47284400-47296400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:47284400-47296400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:47284600-47287000	Enhancers	Rectal Smooth Muscle	rectum
33	chr2:47284600-47287600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:47284600-47290600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:47284600-47296000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:47284600-47298400	Strong transcription	Thymus	Thymus
37	chr2:47284800-47292600	Weak transcription	Small Intestine	intestine
38	chr2:47285000-47287000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr2:47285000-47287000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:47285000-47287400	Weak transcription	GM12878-XiMat	blood
41	chr2:47285000-47287800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:47285000-47287800	Weak transcription	Gastric	stomach
43	chr2:47285000-47287800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:47285000-47292800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:47285000-47295000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:47285000-47295200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:47285000-47295400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:47285200-47287000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:47285200-47287800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:47285200-47288400	Weak transcription	Liver	Liver

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