Variant report

Variant	rs2402592
Chromosome Location	chr7:121515717-121515718
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121510725..121513695-chr7:121515453..121517993,2	K562	blood:

Variant related genes	Relation type
ENSG00000106278	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10452995	1.00[EUR][1000 genomes]
rs10488056	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206491	0.84[EUR][1000 genomes]
rs17143870	1.00[EUR][1000 genomes]
rs17143872	1.00[EUR][1000 genomes]
rs17143879	0.89[EUR][1000 genomes]
rs17143901	1.00[EUR][1000 genomes]
rs1916881	1.00[EUR][1000 genomes]
rs1916882	1.00[EUR][1000 genomes]
rs57309972	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58082429	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58096965	1.00[EUR][1000 genomes]
rs58853157	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59694519	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60930011	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73434977	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73434983	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73434988	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73434990	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73434994	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73434996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73435002	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73437103	1.00[EUR][1000 genomes]
rs73437114	1.00[EUR][1000 genomes]
rs73437125	1.00[EUR][1000 genomes]
rs73437144	1.00[EUR][1000 genomes]
rs73437150	1.00[EUR][1000 genomes]
rs960540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9918557	1.00[EUR][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	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1802911	chr7:121489994-121524500	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121512400-121516000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
2	chr7:121512600-121516000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:121512600-121516000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:121512600-121516800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:121512800-121515800	Active TSS	Fetal Brain Male	brain
6	chr7:121512800-121516200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr7:121512800-121516800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:121512800-121517000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:121512800-121518600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:121513800-121517600	Active TSS	Brain Germinal Matrix	brain
11	chr7:121514000-121517400	Active TSS	Brain Anterior Caudate	brain
12	chr7:121514000-121518400	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr7:121514000-121518800	Active TSS	Fetal Brain Female	brain
14	chr7:121514600-121516200	Active TSS	Brain Hippocampus Middle	brain
15	chr7:121514800-121516800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:121515000-121517000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:121515000-121517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:121515000-121517600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:121515000-121522400	Weak transcription	HMEC	breast
20	chr7:121515200-121516000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:121515200-121516000	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr7:121515400-121517000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:121515400-121520800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:121515600-121515800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
25	chr7:121515600-121515800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:121515600-121515800	Flanking Active TSS	NHEK	skin
27	chr7:121515600-121516000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr7:121515600-121516000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
29	chr7:121515600-121516200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:121515600-121516200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr7:121515600-121516200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:121515600-121516800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:121515600-121543600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links