Variant report

Variant	rs2622768
Chromosome Location	chr15:51976619-51976620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:51976555..51979151-chr15:51989814..51992249,2	MCF-7	breast:
2	chr15:51975005..51977651-chr15:51984880..51987418,3	K562	blood:
3	chr15:51968757..51971365-chr15:51975638..51977391,2	MCF-7	breast:
4	chr15:51974117..51976857-chr15:51978812..51980643,2	MCF-7	breast:
5	chr15:51976547..51978091-chr15:52028258..52031013,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140280	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1017679	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10851501	0.83[EUR][1000 genomes]
rs11070861	0.89[EUR][1000 genomes]
rs12324531	0.91[EUR][1000 genomes]
rs12441057	0.89[EUR][1000 genomes]
rs12708427	0.90[EUR][1000 genomes]
rs12901452	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12904173	0.83[EUR][1000 genomes]
rs12904583	0.82[EUR][1000 genomes]
rs1378892	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1378893	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1378894	0.92[EUR][1000 genomes]
rs1378895	0.92[EUR][1000 genomes]
rs1456295	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1456297	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1471072	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1531157	0.87[EUR][1000 genomes]
rs1551657	0.80[EUR][1000 genomes]
rs17524750	0.82[EUR][1000 genomes]
rs17524906	0.83[EUR][1000 genomes]
rs1840707	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1902595	0.90[EUR][1000 genomes]
rs1902596	0.88[EUR][1000 genomes]
rs2252220	0.92[EUR][1000 genomes]
rs2414112	0.90[EUR][1000 genomes]
rs2606134	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2606136	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2606137	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2606138	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2606139	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2606141	0.94[EUR][1000 genomes]
rs2606143	0.92[EUR][1000 genomes]
rs2606145	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2606146	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607110	0.85[EUR][1000 genomes]
rs2607112	0.90[EUR][1000 genomes]
rs2607116	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2607117	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2622769	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2622770	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28408214	0.86[EUR][1000 genomes]
rs34448759	0.82[EUR][1000 genomes]
rs34662965	0.80[EUR][1000 genomes]
rs34929849	0.81[EUR][1000 genomes]
rs35011964	0.83[EUR][1000 genomes]
rs4465557	0.86[EUR][1000 genomes]
rs4774594	0.85[EUR][1000 genomes]
rs4775954	0.86[EUR][1000 genomes]
rs55725532	0.82[EUR][1000 genomes]
rs6493507	0.86[EUR][1000 genomes]
rs6493511	0.90[EUR][1000 genomes]
rs6493512	0.90[EUR][1000 genomes]
rs6493514	0.90[EUR][1000 genomes]
rs716986	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7180329	0.80[EUR][1000 genomes]
rs7181921	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8025974	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027162	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8029731	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs897581	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs956171	0.83[EUR][1000 genomes]
rs9672605	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9944266	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv904219	chr15:51851999-51977159	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
3	nsv457139	chr15:51854718-51977159	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
4	nsv569407	chr15:51854718-51977159	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
5	nsv1035967	chr15:51949866-52008736	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51974200-51977200	Weak transcription	Brain Substantia Nigra	brain
2	chr15:51974200-52018800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:51974400-51983400	Weak transcription	Brain Hippocampus Middle	brain
4	chr15:51974400-51990800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:51974400-52005200	Weak transcription	Brain Anterior Caudate	brain
6	chr15:51974600-51983000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:51974600-51983200	Weak transcription	K562	blood
8	chr15:51974600-51984200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr15:51974600-51991000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr15:51974600-52016400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr15:51974800-51984600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:51975000-51980400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:51975000-51982600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:51975000-51993200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:51975200-51998400	Weak transcription	Brain Angular Gyrus	brain
16	chr15:51975400-51977800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr15:51975400-51979600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr15:51975600-51978600	Weak transcription	Brain Germinal Matrix	brain
19	chr15:51975600-51979800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr15:51975600-52017200	Weak transcription	Fetal Brain Male	brain
21	chr15:51976000-51977000	Enhancers	Fetal Brain Female	brain
22	chr15:51976400-51976800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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