Variant report

Variant	rs4820043
Chromosome Location	chr22:31647094-31647095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31646685..31649420-chr22:31724397..31725968,2	MCF-7	breast:
2	chr22:31641781..31645850-chr22:31646160..31651289,6	K562	blood:
3	chr22:31627806..31629543-chr22:31645486..31647563,2	MCF-7	breast:
4	chr22:31646269..31648864-chr22:31648933..31651517,2	K562	blood:
5	chr22:31643577..31645616-chr22:31646288..31648730,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1034588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1034589	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12152166	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13054220	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13056485	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs131205	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13158	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs1858821	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2040533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073857	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079431	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2106294	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2232170	0.85[CEU][hapmap]
rs2232176	0.85[CEU][hapmap]
rs2273249	0.95[CEU][hapmap]
rs2273251	0.95[CEU][hapmap]
rs2283879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2283881	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2413032	0.83[EUR][1000 genomes]
rs2413033	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2413034	0.87[EUR][1000 genomes]
rs2413035	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2413045	1.00[MKK][hapmap]
rs2413046	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2413047	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2413049	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2899164	0.95[CEU][hapmap]
rs4141404	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4299418	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4603880	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4820042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4820951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4820955	1.00[CEU][hapmap]
rs4820962	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4820963	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749224	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs5749229	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5749243	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753500	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753507	0.85[EUR][1000 genomes]
rs5753521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753601	0.95[CEU][hapmap]
rs5753609	0.90[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap]
rs5753618	0.81[TSI][hapmap]
rs59315359	0.81[EUR][1000 genomes]
rs5997893	0.90[MEX][hapmap]
rs5997902	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5997912	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5997913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs5997933	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5997939	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997949	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71324184	0.84[EUR][1000 genomes]
rs714909	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs715510	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7285619	0.95[CEU][hapmap];0.91[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap]
rs7287267	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs737684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737887	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs737888	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs738657	0.95[CEU][hapmap]
rs8135344	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8135347	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8135417	0.90[MEX][hapmap]
rs8138596	0.83[EUR][1000 genomes]
rs9606830	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9606831	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9606839	0.95[CEU][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap]
rs9609254	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9609257	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9609264	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9609265	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9609266	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9609267	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9609268	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9621235	0.88[EUR][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	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4820043	DRG1	Cis_1M	lymphoblastoid	RTeQTL
rs4820043	PISD	cis	cerebellum	SCAN
rs4820043	MGC17330	cis	multi-tissue	Pritchard
rs4820043	SFI1	cis	Thyroid	GTEx
rs4820043	SFI1	cis	cerebellum	SCAN
rs4820043	RHBDD3	cis	cerebellum	SCAN
rs4820043	MN1	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31641400-31649600	Weak transcription	Hela-S3	cervix
2	chr22:31642800-31648200	Enhancers	Stomach Mucosa	stomach
3	chr22:31644000-31647200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
4	chr22:31644200-31649800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:31644200-31665800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:31644600-31647600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr22:31644600-31647600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr22:31644600-31648200	Genic enhancers	Rectal Mucosa Donor 31	rectum
9	chr22:31644600-31649800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr22:31644600-31650400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr22:31644600-31654200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr22:31644600-31654200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr22:31644600-31654400	Weak transcription	K562	blood
14	chr22:31644600-31658000	Weak transcription	Psoas Muscle	Psoas
15	chr22:31644600-31668600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr22:31644800-31649200	Weak transcription	Primary T cells from cord blood	blood
17	chr22:31644800-31649600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr22:31644800-31650000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr22:31644800-31650000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr22:31644800-31650200	Genic enhancers	HepG2	liver
21	chr22:31644800-31650800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr22:31644800-31654400	Weak transcription	Liver	Liver
23	chr22:31644800-31654800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr22:31645000-31647400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:31645000-31648000	Enhancers	Left Ventricle	heart
26	chr22:31645000-31650000	Weak transcription	Fetal Thymus	thymus
27	chr22:31645000-31654200	Weak transcription	Fetal Brain Female	brain
28	chr22:31645000-31654400	Weak transcription	Brain Germinal Matrix	brain
29	chr22:31645000-31668400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr22:31645000-31668600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr22:31645000-31677600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:31645200-31647200	Enhancers	Adipose Nuclei	Adipose
33	chr22:31645200-31648000	Genic enhancers	Rectal Mucosa Donor 29	rectum
34	chr22:31645200-31648200	Transcr. at gene 5' and 3'	NHEK	skin
35	chr22:31645200-31654400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr22:31645200-31654800	Weak transcription	Fetal Lung	lung
37	chr22:31645200-31667000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr22:31645400-31647200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr22:31645400-31650000	Weak transcription	Colonic Mucosa	Colon
40	chr22:31645400-31650000	Weak transcription	Spleen	Spleen
41	chr22:31645400-31654000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr22:31645400-31654000	Weak transcription	Dnd41	blood
43	chr22:31645400-31654200	Weak transcription	Brain Angular Gyrus	brain
44	chr22:31645400-31661800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr22:31645600-31647200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr22:31645600-31647200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr22:31645600-31647200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr22:31645600-31647200	Enhancers	Lung	lung
49	chr22:31645600-31647600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:31645600-31648000	Strong transcription	HUVEC	blood vessel

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