Variant report

Variant	rs538517
Chromosome Location	chr22:27712364-27712365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:27711821..27714484-chr22:27715858..27718527,2	K562	blood:
2	chr22:27711302..27714026-chr22:27718746..27720459,2	MCF-7	breast:
3	chr22:27711066..27713775-chr22:27733524..27735258,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs483261	1.00[EUR][1000 genomes]
rs520217	1.00[EUR][1000 genomes]
rs520634	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs521076	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs541267	1.00[EUR][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:39 , 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	chr22:27707400-27714600	Enhancers	Colonic Mucosa	Colon
4	chr22:27708200-27713400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:27708200-27715200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr22:27709000-27714200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:27709000-27714600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:27709000-27715600	Enhancers	Fetal Brain Male	brain
9	chr22:27709200-27713600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:27709200-27714400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:27709400-27713200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:27709400-27713600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr22:27709400-27714200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:27709400-27714400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:27709400-27714600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:27709600-27713200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr22:27709600-27713400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr22:27709600-27713600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr22:27709800-27712600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:27709800-27714600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr22:27710000-27712800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr22:27710000-27714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:27710400-27713400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:27710400-27713400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:27710400-27714200	Weak transcription	NH-A	brain
26	chr22:27710400-27714600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:27710600-27712800	Weak transcription	Brain Germinal Matrix	brain
28	chr22:27710600-27713000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:27710800-27712800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:27710800-27712800	Weak transcription	Adipose Nuclei	Adipose
31	chr22:27710800-27713600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr22:27710800-27714600	Weak transcription	Ovary	ovary
33	chr22:27711000-27713200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr22:27711400-27712600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
35	chr22:27711800-27712400	ZNF genes & repeats	Spleen	Spleen
36	chr22:27712000-27713000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr22:27712000-27713200	Weak transcription	Fetal Brain Female	brain
38	chr22:27712000-27714000	Weak transcription	Pancreas	Pancrea
39	chr22:27712200-27712600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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