Variant report

Variant	rs5749270
Chromosome Location	chr22:31812853-31812854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:31807204-31822350..22:31836635-31847259	K562	blood:
2	22:31807204-31822350..22:32292186-32294405	K562	blood:
3	chr22:31811900..31813943-chr22:31814230..31817228,2	MCF-7	breast:
4	22:31807204-31822350..22:32012966-32043914	K562	blood:
5	22:31807204-31822350..22:31978142-31983723	GM12878	blood:

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

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1001599	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13054220	0.81[EUR][1000 genomes]
rs13057504	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2273249	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2273251	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2899164	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34538851	0.90[AFR][1000 genomes]
rs34545960	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4603880	0.85[EUR][1000 genomes]
rs5749265	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749283	0.90[AFR][1000 genomes]
rs5749286	0.90[AFR][1000 genomes]
rs5749291	0.81[AFR][1000 genomes]
rs5753597	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753601	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753609	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753612	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753613	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753615	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753618	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs5753621	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753623	0.83[AMR][1000 genomes]
rs5753628	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5753631	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5753648	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs5753659	0.83[AMR][1000 genomes]
rs5753661	0.90[AFR][1000 genomes]
rs5753664	0.90[AFR][1000 genomes]
rs5753665	0.90[AFR][1000 genomes]
rs5753666	0.90[AFR][1000 genomes]
rs5753669	0.90[AFR][1000 genomes]
rs5753671	0.90[AFR][1000 genomes]
rs5994394	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997969	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs714909	0.85[EUR][1000 genomes]
rs715510	0.80[EUR][1000 genomes]
rs7284622	0.90[AFR][1000 genomes]
rs7285619	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7287267	0.85[EUR][1000 genomes]
rs7293171	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs738657	0.81[EUR][1000 genomes]
rs8138596	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8139625	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8141150	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8142121	0.83[AMR][1000 genomes]
rs9606830	0.84[EUR][1000 genomes]
rs9606831	0.85[EUR][1000 genomes]
rs9606839	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9606843	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9606846	0.90[AFR][1000 genomes]
rs9606847	0.90[AFR][1000 genomes]
rs9606848	0.90[AFR][1000 genomes]
rs9609254	0.83[EUR][1000 genomes]
rs9609257	0.82[EUR][1000 genomes]
rs9609264	0.84[EUR][1000 genomes]
rs9609265	0.85[EUR][1000 genomes]
rs9609266	0.84[EUR][1000 genomes]
rs9609267	0.86[EUR][1000 genomes]
rs9609268	0.88[EUR][1000 genomes]
rs9609276	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9609277	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9609286	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9609295	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9609296	0.83[AMR][1000 genomes]
rs9609297	0.83[AMR][1000 genomes]
rs9609299	0.80[AMR][1000 genomes]
rs9609301	0.90[AFR][1000 genomes]
rs9609303	0.90[AFR][1000 genomes]
rs9609304	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5749270	DRG1	Cis_1M	lymphoblastoid	RTeQTL
rs5749270	SFI1	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31796600-31821200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:31796600-31830000	Weak transcription	Stomach Mucosa	stomach
3	chr22:31796800-31815800	Weak transcription	Psoas Muscle	Psoas
4	chr22:31796800-31822400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:31796800-31835600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:31797000-31832000	Strong transcription	Fetal Muscle Leg	muscle
7	chr22:31797000-31836600	Strong transcription	Placenta	Placenta
8	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:31797200-31814000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr22:31797200-31817000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr22:31797200-31826800	Strong transcription	Liver	Liver
13	chr22:31797200-31832600	Strong transcription	Fetal Intestine Small	intestine
14	chr22:31797200-31845400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr22:31797200-31846200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr22:31797200-31846400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:31797200-31860600	Strong transcription	Fetal Stomach	stomach
18	chr22:31797400-31813000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:31797400-31813000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr22:31797400-31821200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr22:31797400-31846800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr22:31797600-31813000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr22:31797600-31813000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr22:31797600-31828000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:31797600-31835800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr22:31797800-31813000	Strong transcription	Primary T cells from cord blood	blood
27	chr22:31797800-31821600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr22:31797800-31832200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr22:31797800-31844800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr22:31797800-31846800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr22:31798000-31813200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr22:31798000-31831800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:31798200-31813000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr22:31798200-31827000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr22:31798200-31831200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr22:31798400-31813000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr22:31798600-31813000	Strong transcription	Lung	lung
38	chr22:31798600-31813000	Strong transcription	Thymus	Thymus
39	chr22:31798600-31821000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:31798800-31813000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr22:31799000-31845400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr22:31799200-31813400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr22:31799200-31846600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr22:31800200-31821000	Weak transcription	Fetal Brain Male	brain
45	chr22:31803200-31816400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr22:31803400-31822000	Weak transcription	Fetal Heart	heart
47	chr22:31803600-31844600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr22:31804400-31813000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr22:31804600-31847000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr22:31805000-31844800	Strong transcription	Primary B cells from peripheral blood	blood

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