Variant report

Variant	rs8142121
Chromosome Location	chr22:31882785-31882786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:31864703-31891033..22:31936958-31958600	GM12878	blood:
2	chr22:31880474..31882997-chr22:31883937..31886891,2	K562	blood:
3	22:31864703-31891033..22:31930706-31935473	GM12878	blood:
4	22:31864703-31891033..22:32347255-32351014	K562	blood:
5	chr22:31880006..31882997-chr22:31884265..31886891,3	K562	blood:

Variant related genes	Relation type
ENSG00000238910	Chromatin interaction
ENSG00000229169	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000214093	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs13057504	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2273249	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2273251	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34538851	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34545960	0.80[AMR][1000 genomes]
rs5749267	0.83[AMR][1000 genomes]
rs5749268	0.83[AMR][1000 genomes]
rs5749270	0.83[AMR][1000 genomes]
rs5749283	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749286	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749291	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749295	0.80[ASN][1000 genomes]
rs5749298	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753610	0.83[AMR][1000 genomes]
rs5753612	0.80[AMR][1000 genomes]
rs5753613	0.83[AMR][1000 genomes]
rs5753615	0.87[AMR][1000 genomes]
rs5753621	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5753628	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753631	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753648	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753659	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753661	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753664	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753665	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753666	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753669	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753671	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5994394	0.83[AMR][1000 genomes]
rs7284622	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7285619	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7293171	0.80[AMR][1000 genomes]
rs8139625	0.87[AMR][1000 genomes]
rs9606839	0.83[AMR][1000 genomes]
rs9606843	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9606846	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9606847	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9606848	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9606852	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9609286	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9609295	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9609296	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9609297	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9609299	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9609301	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9609303	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9609304	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[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	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
2	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv1060776	chr22:31869892-31900359	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8142121	SFI1	cis	Thyroid	GTEx
rs8142121	DRG1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:31815000-31883400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:31823600-31884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:31848800-31883000	Weak transcription	Fetal Heart	heart
6	chr22:31854800-31884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:31856800-31885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:31858400-31884600	Weak transcription	Psoas Muscle	Psoas
9	chr22:31859400-31883800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr22:31859400-31884800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:31860200-31884800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr22:31864400-31884400	Weak transcription	Brain Substantia Nigra	brain
13	chr22:31864400-31884600	Weak transcription	Aorta	Aorta
14	chr22:31864600-31884600	Weak transcription	Right Ventricle	heart
15	chr22:31867600-31884600	Weak transcription	Pancreas	Pancrea
16	chr22:31868800-31884200	Strong transcription	HSMM	muscle
17	chr22:31870000-31883400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr22:31870400-31883600	Strong transcription	Fetal Intestine Large	intestine
19	chr22:31870800-31883600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr22:31870800-31884000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:31870800-31884400	Strong transcription	Fetal Thymus	thymus
22	chr22:31871000-31884400	Strong transcription	Placenta	Placenta
23	chr22:31871200-31883800	Strong transcription	Fetal Intestine Small	intestine
24	chr22:31871600-31883000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr22:31872200-31884200	Weak transcription	Hela-S3	cervix
26	chr22:31872600-31884000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:31872600-31884200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr22:31872600-31884400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr22:31872800-31884400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr22:31872800-31884400	Strong transcription	Fetal Muscle Leg	muscle
31	chr22:31873200-31883600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr22:31873200-31883800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr22:31873200-31884000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr22:31873400-31883800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:31873400-31884200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr22:31873600-31883400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr22:31873600-31884200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr22:31873600-31884200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr22:31873600-31884200	Strong transcription	Osteobl	bone
40	chr22:31874000-31883800	Strong transcription	Fetal Stomach	stomach
41	chr22:31874200-31883800	Strong transcription	Brain Germinal Matrix	brain
42	chr22:31874400-31884600	Weak transcription	Stomach Mucosa	stomach
43	chr22:31875200-31883800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr22:31875200-31884200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr22:31875200-31884400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr22:31875200-31884400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr22:31875800-31884600	Weak transcription	Colonic Mucosa	Colon
48	chr22:31876000-31884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr22:31876400-31884000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr22:31876600-31883800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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