Variant report

Variant	rs2562568
Chromosome Location	chr5:36593600-36593601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36240759..36242858-chr5:36591808..36593698,2	MCF-7	breast:
2	chr5:36588011..36589772-chr5:36591606..36593865,2	K562	blood:

Variant related genes	Relation type
ENSG00000152620	Chromatin interaction
ENSG00000242292	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10061650	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10076624	0.90[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10805623	0.86[ASN][1000 genomes]
rs10941305	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1366636	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2115521	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2562554	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2562559	0.87[ASN][1000 genomes]
rs2731901	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2731906	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2731907	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2731909	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2731920	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6888575	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs9800255	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881025	chr5:36575021-36613053	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36591200-36606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:36591800-36596000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:36591800-36596200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:36591800-36596200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:36591800-36596600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:36591800-36597000	Weak transcription	Brain Anterior Caudate	brain
7	chr5:36591800-36597800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:36591800-36597800	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:36591800-36597800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:36591800-36598000	Weak transcription	Brain Substantia Nigra	brain
11	chr5:36592000-36596000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:36592000-36596000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:36592000-36596000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:36592000-36597800	Weak transcription	Brain Angular Gyrus	brain
15	chr5:36592200-36596000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:36592200-36596200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:36592600-36598000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:36593200-36593800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:36593200-36595000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr5:36593400-36593600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:36593400-36593600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr5:36593400-36593800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:36593400-36593800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:36593400-36595000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:36593400-36595200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:36593600-36594000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:36593600-36594200	Enhancers	Primary B cells from peripheral blood	blood
28	chr5:36593600-36594200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr5:36593600-36594400	Enhancers	Primary B cells from cord blood	blood

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