Variant report

Variant	rs1034588
Chromosome Location	chr22:31616301-31616302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31607740..31612588-chr22:31613432..31617024,5	MCF-7	breast:
2	chr22:31612460..31616795-chr22:31617832..31622483,6	K562	blood:
3	chr22:31606939..31608587-chr22:31613906..31616819,2	K562	blood:
4	chr22:31607052..31610317-chr22:31615499..31617849,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199695	Chromatin interaction
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1034589	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13054220	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13056485	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs13158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1858821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2040533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2073857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2078803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2079431	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2106294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2228619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2232170	0.85[CEU][hapmap]
rs2232176	0.85[CEU][hapmap]
rs2283879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2283881	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2413031	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2413032	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2413033	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2413034	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2413035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413046	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2413047	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2413049	0.91[EUR][1000 genomes]
rs2899164	0.95[CEU][hapmap]
rs4141404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4299418	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4603880	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4820042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820043	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]
rs4820951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820955	1.00[CEU][hapmap]
rs4820962	0.86[EUR][1000 genomes]
rs4820963	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5749224	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749243	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5753500	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753505	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5753507	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753601	0.95[CEU][hapmap]
rs5997902	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5997912	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5997933	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5997939	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5997949	0.80[EUR][1000 genomes]
rs71324184	0.80[EUR][1000 genomes]
rs71331284	0.84[ASN][1000 genomes]
rs714909	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs715510	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7287267	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs737684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs737887	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs737888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8135344	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8135347	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9606830	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9606831	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9606839	0.95[CEU][hapmap]
rs9609254	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9609257	0.83[EUR][1000 genomes]
rs9609264	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9609265	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9609266	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9609267	0.86[EUR][1000 genomes]
rs9609268	0.83[EUR][1000 genomes]
rs9621235	0.83[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1034588	SFI1	cis	Thyroid	GTEx
rs1034588	DRG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31608800-31639800	Weak transcription	Aorta	Aorta
2	chr22:31609200-31619600	Weak transcription	Brain Substantia Nigra	brain
3	chr22:31609200-31629000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:31609400-31617800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr22:31609400-31619000	Weak transcription	HSMM	muscle
6	chr22:31609400-31619600	Weak transcription	Brain Angular Gyrus	brain
7	chr22:31609400-31621800	Weak transcription	Fetal Brain Female	brain
8	chr22:31609400-31625400	Weak transcription	NHLF	lung
9	chr22:31609400-31625400	Weak transcription	Osteobl	bone
10	chr22:31609600-31616600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:31609600-31619000	Weak transcription	Brain Anterior Caudate	brain
12	chr22:31609600-31619000	Weak transcription	Fetal Lung	lung
13	chr22:31609600-31619000	Weak transcription	Psoas Muscle	Psoas
14	chr22:31609600-31621400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:31609600-31621600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr22:31609600-31621600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:31609600-31623000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:31609600-31623000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr22:31609600-31623400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr22:31609600-31624000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr22:31609600-31624800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr22:31609600-31625000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:31609600-31625400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr22:31609600-31625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr22:31609600-31627200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr22:31609600-31639200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr22:31609800-31618800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr22:31609800-31620400	Enhancers	Fetal Intestine Large	intestine
29	chr22:31609800-31621400	Weak transcription	Dnd41	blood
30	chr22:31609800-31621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr22:31609800-31629400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr22:31610000-31621600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr22:31610600-31621000	Enhancers	Pancreas	Pancrea
34	chr22:31610800-31618000	Weak transcription	Placenta	Placenta
35	chr22:31611800-31620800	Weak transcription	Fetal Stomach	stomach
36	chr22:31612000-31617000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr22:31612400-31622800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr22:31612600-31617200	Weak transcription	Lung	lung
39	chr22:31612600-31621800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr22:31612800-31617800	Weak transcription	Gastric	stomach
41	chr22:31613800-31622800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr22:31614000-31619000	Weak transcription	Colon Smooth Muscle	Colon
43	chr22:31614000-31619000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr22:31614000-31626600	Weak transcription	Fetal Heart	heart
45	chr22:31614200-31617800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr22:31614200-31620400	Enhancers	Adipose Nuclei	Adipose
47	chr22:31614400-31625200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr22:31614600-31617800	Weak transcription	K562	blood
49	chr22:31614600-31621600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr22:31614800-31616400	Strong transcription	Fetal Thymus	thymus

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