Variant report

Variant	rs543981
Chromosome Location	chr22:27712996-27712997
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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRYBA4-8	chr22:27712765-27713416	XLOC_014197
2	lnc-CRYBA4-8	chr22:27712765-27713417	ENSG00000226741

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs543934	0.82[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs543981	ZNF280A	cis	cerebellum	SCAN

Chromatin state (count:43 , 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	chr22:27709800-27714600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr22:27710000-27714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr22:27710400-27713400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:27710400-27713400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:27710400-27714200	Weak transcription	NH-A	brain
24	chr22:27710400-27714600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:27710600-27713000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:27710800-27713600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr22:27710800-27714600	Weak transcription	Ovary	ovary
28	chr22:27711000-27713200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr22:27712000-27713000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr22:27712000-27713200	Weak transcription	Fetal Brain Female	brain
31	chr22:27712000-27714000	Weak transcription	Pancreas	Pancrea
32	chr22:27712400-27713200	Weak transcription	Spleen	Spleen
33	chr22:27712600-27713800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:27712600-27714000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr22:27712600-27714800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:27712800-27713000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:27712800-27713000	Enhancers	Brain Germinal Matrix	brain
38	chr22:27712800-27713600	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr22:27712800-27714400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr22:27712800-27715000	Enhancers	Fetal Muscle Trunk	muscle
41	chr22:27712800-27715200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr22:27712800-27715200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr22:27712800-27715200	Enhancers	Adipose Nuclei	Adipose

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