Variant report

Variant	rs62174452
Chromosome Location	chr2:152700693-152700694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152683973..152685963-chr2:152700586..152703533,2	MCF-7	breast:
2	chr2:152694855..152696851-chr2:152699982..152702874,2	K562	blood:
3	chr2:152699898..152701978-chr2:152703514..152705107,2	K562	blood:

Variant related genes	Relation type
ENSG00000162980	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11678607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11680386	0.96[EUR][1000 genomes]
rs11681677	1.00[EUR][1000 genomes]
rs11685243	0.80[EUR][1000 genomes]
rs11687218	1.00[EUR][1000 genomes]
rs11688428	1.00[EUR][1000 genomes]
rs11688476	1.00[EUR][1000 genomes]
rs16830427	1.00[EUR][1000 genomes]
rs35244681	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4664507	0.88[EUR][1000 genomes]
rs61736804	1.00[EUR][1000 genomes]
rs62174451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62174453	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62174454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62174456	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62174457	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62174459	1.00[EUR][1000 genomes]
rs62175660	1.00[EUR][1000 genomes]
rs62175661	1.00[EUR][1000 genomes]
rs62175662	1.00[EUR][1000 genomes]
rs62175663	1.00[EUR][1000 genomes]
rs62175664	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62175665	1.00[EUR][1000 genomes]
rs62175666	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62175667	1.00[EUR][1000 genomes]
rs62175668	1.00[EUR][1000 genomes]
rs62175712	0.96[EUR][1000 genomes]
rs62175715	0.96[EUR][1000 genomes]
rs62175745	0.80[EUR][1000 genomes]
rs62175747	0.80[EUR][1000 genomes]
rs756253	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv1010582	chr2:152692238-152701782	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152685600-152709600	Weak transcription	Fetal Brain Female	brain
2	chr2:152685800-152702200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:152695000-152732600	Weak transcription	Brain Angular Gyrus	brain
4	chr2:152695800-152701600	Weak transcription	Esophagus	oesophagus
5	chr2:152697600-152703400	Weak transcription	Brain Germinal Matrix	brain
6	chr2:152697600-152706000	Weak transcription	Gastric	stomach
7	chr2:152698800-152708400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:152699200-152702800	Enhancers	Fetal Heart	heart
9	chr2:152699400-152702400	Enhancers	HUVEC	blood vessel
10	chr2:152699600-152701600	Enhancers	K562	blood
11	chr2:152699600-152703000	Enhancers	GM12878-XiMat	blood
12	chr2:152699800-152701200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:152699800-152701400	Enhancers	Aorta	Aorta
14	chr2:152699800-152742000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:152700000-152701200	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:152700000-152709000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:152700000-152710200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:152700000-152713000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:152700000-152731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:152700000-152732600	Weak transcription	Right Atrium	heart
21	chr2:152700200-152700800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:152700200-152701000	Weak transcription	Lung	lung
23	chr2:152700200-152701200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:152700200-152701400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:152700200-152705800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:152700200-152708400	Weak transcription	Left Ventricle	heart
27	chr2:152700400-152700800	Weak transcription	Right Ventricle	heart
28	chr2:152700400-152701000	Enhancers	Fetal Kidney	kidney
29	chr2:152700400-152701400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:152700400-152702600	Enhancers	HepG2	liver
31	chr2:152700400-152702800	Enhancers	Fetal Brain Male	brain
32	chr2:152700600-152700800	Enhancers	Fetal Lung	lung
33	chr2:152700600-152701400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:152700600-152701600	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links