Variant report

Variant	rs2706479
Chromosome Location	chr15:44481815-44481816
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	chr15:44475513..44478627-chr15:44480233..44482535,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12908646	0.84[EUR][1000 genomes]
rs12913330	0.85[EUR][1000 genomes]
rs2248988	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2255056	0.84[AMR][1000 genomes]
rs2255057	0.84[AMR][1000 genomes]
rs2447332	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2464693	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2470093	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2615257	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2615258	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2615301	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2696082	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2696084	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2696087	0.84[AMR][1000 genomes]
rs2706464	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2706482	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2706483	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2733236	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2957585	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2957586	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4924743	0.85[EUR][1000 genomes]
rs7178082	0.84[EUR][1000 genomes]
rs870161	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	esv3351630	chr15:44334624-44547841	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv904173	chr15:44391572-44522214	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv904174	chr15:44391572-44538660	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv569298	chr15:44401266-44513090	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv904175	chr15:44403988-44538660	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv904176	chr15:44403988-44579854	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv1843598	chr15:44417606-44526813	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	esv2754388	chr15:44479709-44592847	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44457200-44484200	Weak transcription	NH-A	brain
2	chr15:44476000-44482000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:44476600-44483000	Enhancers	Brain Angular Gyrus	brain
4	chr15:44477400-44484800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:44477600-44482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:44478200-44484800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr15:44479200-44482200	Enhancers	Brain Substantia Nigra	brain
8	chr15:44479200-44484400	Weak transcription	Fetal Brain Female	brain
9	chr15:44479400-44482200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr15:44479400-44483400	Enhancers	Brain Anterior Caudate	brain
11	chr15:44480000-44484600	Weak transcription	Brain Germinal Matrix	brain
12	chr15:44480200-44482600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:44480400-44482600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:44480400-44483800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr15:44481000-44482000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr15:44481200-44483000	Enhancers	Brain Cingulate Gyrus	brain
17	chr15:44481200-44484200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr15:44481400-44482600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:44481400-44485600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr15:44481600-44482200	Enhancers	Brain Hippocampus Middle	brain
21	chr15:44481600-44483800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:44481600-44484200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:44481800-44482200	Weak transcription	Fetal Heart	heart
24	chr15:44481800-44482600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links