Variant report

Variant	rs2192614
Chromosome Location	chr2:49127549-49127550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:49121216..49123118-chr2:49126253..49127804,2	MCF-7	breast:
2	chr2:49127535..49130275-chr2:49154381..49157152,2	MCF-7	breast:
3	chr2:48993937..48996711-chr2:49125527..49127927,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068781	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12713021	0.93[ASN][1000 genomes]
rs4366952	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4953637	0.91[ASN][1000 genomes]
rs4953638	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4953639	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7562533	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7570675	0.88[ASN][1000 genomes]
rs7601367	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv998864	chr2:49015878-49230000	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv874005	chr2:49086399-49142199	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1013414	chr2:49090394-49191927	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1012090	chr2:49090394-49192704	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv874006	chr2:49092782-49141414	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1006364	chr2:49096139-49147372	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv874007	chr2:49102526-49321164	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
12	nsv581789	chr2:49109306-49150192	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv874008	chr2:49126802-49189921	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49126400-49128400	Enhancers	HSMMtube	muscle
2	chr2:49127000-49128200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:49127000-49128200	Enhancers	Brain Germinal Matrix	brain
4	chr2:49127000-49128400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:49127000-49128400	Enhancers	Brain Hippocampus Middle	brain
6	chr2:49127200-49127800	Enhancers	Lung	lung
7	chr2:49127200-49128000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:49127200-49128000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:49127200-49128000	Enhancers	Brain Angular Gyrus	brain
10	chr2:49127200-49128000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr2:49127200-49128200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:49127200-49128200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:49127200-49128200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:49127200-49128200	Enhancers	Brain Substantia Nigra	brain
15	chr2:49127200-49128200	Enhancers	Fetal Muscle Leg	muscle
16	chr2:49127200-49128200	Enhancers	Placenta	Placenta
17	chr2:49127200-49128400	Enhancers	Brain Anterior Caudate	brain
18	chr2:49127200-49128400	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:49127200-49128400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:49127200-49128800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:49127200-49128800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:49127400-49127800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:49127400-49127800	Enhancers	Fetal Muscle Trunk	muscle
24	chr2:49127400-49128400	Enhancers	Osteobl	bone
25	chr2:49127400-49128600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:49127400-49128600	Enhancers	HSMM	muscle

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