Variant report

Variant	rs2858752
Chromosome Location	chr22:32349612-32349613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32053085-32061138..22:32347255-32351014	GM12878	blood:
2	22:32170492-32188129..22:32347255-32351014	K562	blood:
3	22:32012966-32043914..22:32347255-32351014	K562	blood:
4	22:31864703-31891033..22:32347255-32351014	K562	blood:

Variant related genes	Relation type
ENSG00000100150	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000199248	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1049583	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12168840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2246704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2301415	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2853884	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853887	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2858750	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2858753	0.89[CHB][hapmap]
rs3747158	0.89[CHB][hapmap]
rs4820059	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs5998196	0.89[CHB][hapmap]
rs7290696	0.88[CHB][hapmap]
rs7291050	0.88[CHB][hapmap]
rs7364274	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs738181	0.88[CHB][hapmap]
rs8141011	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs933226	0.88[CHB][hapmap]
rs9606887	0.80[ASN][1000 genomes]
rs9606888	0.80[ASN][1000 genomes]
rs9609394	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9609395	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9621371	0.88[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428046	chr22:32316302-32356963	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2858752	YWHAH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32342000-32354400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:32342400-32357600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:32343400-32350400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr22:32343400-32355000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:32343600-32349800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
6	chr22:32343600-32354600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:32343800-32351000	Strong transcription	Primary B cells from cord blood	blood
8	chr22:32344600-32352200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:32344800-32352000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:32345600-32350000	Enhancers	Fetal Brain Male	brain
11	chr22:32345600-32350800	Genic enhancers	HMEC	breast
12	chr22:32345600-32351200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:32345600-32351200	Genic enhancers	Fetal Brain Female	brain
14	chr22:32345800-32350000	Enhancers	Hela-S3	cervix
15	chr22:32345800-32351000	Genic enhancers	NHEK	skin
16	chr22:32345800-32351400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr22:32345800-32352600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr22:32346200-32350800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr22:32346200-32350800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:32346400-32350600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr22:32346400-32351200	Genic enhancers	Rectal Mucosa Donor 31	rectum
22	chr22:32346600-32351000	Enhancers	Colon Smooth Muscle	Colon
23	chr22:32346600-32351200	Enhancers	Brain Anterior Caudate	brain
24	chr22:32346600-32351600	Enhancers	HUVEC	blood vessel
25	chr22:32346600-32352200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:32346600-32352800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr22:32346600-32356400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr22:32346800-32350200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr22:32346800-32351200	Enhancers	Adipose Nuclei	Adipose
30	chr22:32346800-32351200	Enhancers	Stomach Mucosa	stomach
31	chr22:32346800-32351400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr22:32346800-32351400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr22:32346800-32352200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr22:32346800-32354800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:32347000-32350600	Weak transcription	Fetal Intestine Small	intestine
36	chr22:32347000-32351000	Weak transcription	Fetal Lung	lung
37	chr22:32347000-32351200	Enhancers	Thymus	Thymus
38	chr22:32347200-32350200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr22:32347200-32350200	Enhancers	NH-A	brain
40	chr22:32347200-32350600	Weak transcription	Lung	lung
41	chr22:32347200-32350800	Enhancers	Small Intestine	intestine
42	chr22:32347200-32351200	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr22:32347200-32351200	Enhancers	Rectal Smooth Muscle	rectum
44	chr22:32347200-32355000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr22:32347400-32349800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr22:32347400-32351200	Enhancers	Fetal Thymus	thymus
47	chr22:32347400-32351200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr22:32347400-32351400	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr22:32347400-32351400	Enhancers	Fetal Heart	heart
50	chr22:32347400-32352200	Weak transcription	Fetal Kidney	kidney

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