Variant report

Variant	rs5749236
Chromosome Location	chr22:31614822-31614823
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:

Variant related genes	Relation type
ENSG00000182541	Chromatin interaction
ENSG00000199695	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10483159	1.00[EUR][1000 genomes]
rs11089493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11089501	1.00[EUR][1000 genomes]
rs11089502	1.00[EUR][1000 genomes]
rs11089503	1.00[EUR][1000 genomes]
rs11089504	1.00[EUR][1000 genomes]
rs12165685	1.00[EUR][1000 genomes]
rs12168242	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12484282	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12484775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12484966	1.00[EUR][1000 genomes]
rs12485176	1.00[EUR][1000 genomes]
rs12485177	1.00[EUR][1000 genomes]
rs17220418	0.89[CHB][hapmap];0.84[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17820958	0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17821132	1.00[EUR][1000 genomes]
rs1859677	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1968024	1.00[EUR][1000 genomes]
rs2057951	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2073856	0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2073859	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2073860	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2073861	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2074734	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2158779	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2240424	0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2240427	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2267168	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2273248	1.00[EUR][1000 genomes]
rs2283882	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28678535	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28872513	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2899161	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs3747153	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3747154	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3747155	1.00[EUR][1000 genomes]
rs3761430	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs3788434	1.00[EUR][1000 genomes]
rs4293639	0.81[ASN][1000 genomes]
rs5749219	0.81[ASN][1000 genomes]
rs5749222	0.91[JPT][hapmap]
rs5749225	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5749230	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5749233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5749235	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5749239	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749240	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749241	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs5749247	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749252	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5749255	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5749257	0.82[ASN][1000 genomes]
rs5749258	1.00[EUR][1000 genomes]
rs5749262	1.00[EUR][1000 genomes]
rs5749263	1.00[EUR][1000 genomes]
rs5753485	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5753494	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5753495	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs5753502	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5753506	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753509	0.83[CHB][hapmap];0.83[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753511	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753519	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753523	0.89[ASN][1000 genomes]
rs5753525	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753529	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753532	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753534	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753535	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753540	0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753542	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs5753554	0.81[ASN][1000 genomes]
rs5753555	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753556	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753561	0.87[ASN][1000 genomes]
rs5753566	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753569	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753571	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753572	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs5753574	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs57775002	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58856347	1.00[EUR][1000 genomes]
rs59416609	1.00[EUR][1000 genomes]
rs5994386	0.81[ASN][1000 genomes]
rs5997893	0.86[JPT][hapmap]
rs5997921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs5997959	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs713619	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7286926	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7292620	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73396257	1.00[EUR][1000 genomes]
rs8135417	0.91[JPT][hapmap]
rs874356	0.91[JPT][hapmap]
rs9619178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9621212	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9621215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9621220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9621226	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9621236	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9621247	1.00[EUR][1000 genomes]
rs9621252	1.00[EUR][1000 genomes]
rs9621261	1.00[EUR][1000 genomes]
rs9621264	1.00[EUR][1000 genomes]
rs9621265	1.00[EUR][1000 genomes]
rs9621270	1.00[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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31608800-31639800	Weak transcription	Aorta	Aorta
2	chr22:31609200-31615000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr22:31609200-31616200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr22:31609200-31619600	Weak transcription	Brain Substantia Nigra	brain
5	chr22:31609200-31629000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:31609400-31615000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:31609400-31616200	Weak transcription	A549	lung
8	chr22:31609400-31617800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr22:31609400-31619000	Weak transcription	HSMM	muscle
10	chr22:31609400-31619600	Weak transcription	Brain Angular Gyrus	brain
11	chr22:31609400-31621800	Weak transcription	Fetal Brain Female	brain
12	chr22:31609400-31625400	Weak transcription	NHLF	lung
13	chr22:31609400-31625400	Weak transcription	Osteobl	bone
14	chr22:31609600-31615200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr22:31609600-31616200	Weak transcription	Spleen	Spleen
16	chr22:31609600-31616600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:31609600-31619000	Weak transcription	Brain Anterior Caudate	brain
18	chr22:31609600-31619000	Weak transcription	Fetal Lung	lung
19	chr22:31609600-31619000	Weak transcription	Psoas Muscle	Psoas
20	chr22:31609600-31621400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr22:31609600-31621600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr22:31609600-31621600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr22:31609600-31623000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr22:31609600-31623000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr22:31609600-31623400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr22:31609600-31624000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr22:31609600-31624800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr22:31609600-31625000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr22:31609600-31625400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr22:31609600-31625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr22:31609600-31627200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr22:31609600-31639200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr22:31609800-31615200	Genic enhancers	Fetal Intestine Small	intestine
34	chr22:31609800-31615600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr22:31609800-31618800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr22:31609800-31620400	Enhancers	Fetal Intestine Large	intestine
37	chr22:31609800-31621400	Weak transcription	Dnd41	blood
38	chr22:31609800-31621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:31609800-31629400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr22:31610000-31621600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr22:31610600-31621000	Enhancers	Pancreas	Pancrea
42	chr22:31610800-31618000	Weak transcription	Placenta	Placenta
43	chr22:31611200-31616000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr22:31611200-31616000	Enhancers	HepG2	liver
45	chr22:31611600-31616000	Weak transcription	Liver	Liver
46	chr22:31611800-31620800	Weak transcription	Fetal Stomach	stomach
47	chr22:31612000-31617000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr22:31612200-31615600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr22:31612400-31615000	Enhancers	Fetal Muscle Leg	muscle
50	chr22:31612400-31622800	Weak transcription	Rectal Smooth Muscle	rectum

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