Variant report

Variant	rs5753631
Chromosome Location	chr22:31863022-31863023
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:31861680-31864703..22:33339333-33353583	K562	blood:
2	22:31861680-31864703..22:31978142-31983723	GM12878	blood:
3	22:31861680-31864703..22:31961151-31976153	K562	blood:
4	chr22:31855754..31858470-chr22:31860369..31863363,2	K562	blood:
5	22:31861680-31864703..22:32012966-32043914	GM12878	blood:
6	22:31803954-31807204..22:31861680-31864703	GM12878	blood:
7	22:31836635-31847259..22:31861680-31864703	K562	blood:
8	chr22:31862991..31864545-chr22:31885430..31887272,2	MCF-7	breast:
9	22:31861680-31864703..22:32750950-32761732	K562	blood:

Variant related genes	Relation type
ENSG00000205853	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000224623	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000241878	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12485048	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs13057504	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2273249	0.81[CHB][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2273251	0.81[CHB][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2899164	0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs34538851	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34545960	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5749265	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5749267	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5749268	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5749270	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5749283	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5749286	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5749291	0.86[AMR][1000 genomes]
rs5753597	0.83[EUR][1000 genomes]
rs5753601	0.81[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753610	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5753612	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753613	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753615	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753618	0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5753620	0.80[JPT][hapmap]
rs5753621	0.88[CHB][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753622	0.80[JPT][hapmap]
rs5753623	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5753628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753632	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753639	0.93[EUR][1000 genomes]
rs5753648	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753659	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753661	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753664	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753665	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753666	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs5753669	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753671	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs5994394	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7284622	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7285619	0.85[CHB][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7293171	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs738657	0.87[EUR][1000 genomes]
rs8139625	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8141150	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8142121	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9606839	0.85[CHB][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9606843	0.85[CHB][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9606846	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9606847	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9606848	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9606852	0.84[AMR][1000 genomes]
rs9609276	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9609277	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9609286	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9609295	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9609296	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9609297	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9609299	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9609301	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9609303	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9609304	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	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
4	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
5	esv1791934	chr22:31846234-31874194	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
6	nsv9897	chr22:31860213-31864142	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5753631	DRG1	Cis_1M	lymphoblastoid	RTeQTL
rs5753631	SFI1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31797000-31884400	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	chr22:31815000-31868200	Strong transcription	Dnd41	blood
4	chr22:31815000-31883400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:31823600-31884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:31832600-31867800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:31836200-31873600	Weak transcription	Stomach Mucosa	stomach
8	chr22:31846000-31865800	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr22:31846400-31872000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr22:31847600-31881800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr22:31847800-31868200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr22:31848000-31865600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:31848000-31867400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:31848000-31868000	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr22:31848000-31868400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr22:31848200-31865800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr22:31848200-31867600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr22:31848200-31867800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr22:31848200-31868200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr22:31848200-31868400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:31848600-31867400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr22:31848600-31868000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:31848600-31868400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:31848800-31883000	Weak transcription	Fetal Heart	heart
25	chr22:31849000-31867600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr22:31849400-31867600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:31850200-31871400	Strong transcription	GM12878-XiMat	blood
28	chr22:31850800-31876800	Weak transcription	Esophagus	oesophagus
29	chr22:31854200-31868200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr22:31854800-31884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:31855600-31864600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr22:31856200-31865000	Weak transcription	K562	blood
33	chr22:31856400-31867800	Strong transcription	Fetal Intestine Small	intestine
34	chr22:31856600-31867400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr22:31856800-31885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:31857000-31867000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:31857000-31867400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:31857200-31865800	Strong transcription	Fetal Brain Female	brain
39	chr22:31858200-31877800	Weak transcription	Fetal Brain Male	brain
40	chr22:31858400-31864600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr22:31858400-31884600	Weak transcription	Psoas Muscle	Psoas
42	chr22:31859000-31863200	Weak transcription	Ovary	ovary
43	chr22:31859000-31875200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr22:31859200-31873600	Weak transcription	A549	lung
45	chr22:31859400-31863200	Weak transcription	HSMMtube	muscle
46	chr22:31859400-31865000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr22:31859400-31871800	Weak transcription	Hela-S3	cervix
48	chr22:31859400-31873800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr22:31859400-31883800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr22:31859400-31884800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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