Variant report

Variant	rs521076
Chromosome Location	chr22:27715185-27715186
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr22:27715120-27715726	U2OS	brain:	n/a	n/a
2	REST	chr22:27714312-27715289	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:27714978..27716870-chr22:27733288..27736214,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223726	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs471702	0.98[AFR][1000 genomes]
rs483261	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs496200	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs520217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs520634	1.00[CEU][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs538517	1.00[EUR][1000 genomes]
rs541267	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs543123	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs573488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs574429	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs577795	0.89[AFR][1000 genomes]
rs7287990	1.00[EUR][1000 genomes]
rs8136974	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	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 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	chr22:27706800-27715400	Enhancers	Fetal Intestine Large	intestine
2	chr22:27707200-27715400	Enhancers	Fetal Intestine Small	intestine
3	chr22:27708200-27715200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr22:27709000-27715600	Enhancers	Fetal Brain Male	brain
5	chr22:27712800-27715200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr22:27712800-27715200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:27712800-27715200	Enhancers	Adipose Nuclei	Adipose
8	chr22:27713000-27715400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:27713200-27715200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr22:27713400-27715200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:27713400-27715200	Enhancers	Primary hematopoietic stem cells	blood
12	chr22:27713400-27715200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:27713400-27715400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr22:27713800-27715200	Enhancers	NHEK	skin
15	chr22:27713800-27715600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr22:27714000-27715200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:27714200-27715200	Enhancers	Fetal Heart	heart
18	chr22:27714200-27715200	Enhancers	Fetal Lung	lung
19	chr22:27714200-27715200	Enhancers	NH-A	brain
20	chr22:27714400-27715200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr22:27714400-27715200	Enhancers	Fetal Brain Female	brain
22	chr22:27714400-27719000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:27714600-27715200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr22:27714600-27715200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:27714800-27715200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr22:27714800-27715400	Enhancers	Brain Germinal Matrix	brain
27	chr22:27714800-27715600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:27715000-27715200	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr22:27715000-27719600	Weak transcription	Ovary	ovary

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