Variant report

Variant	rs730286
Chromosome Location	chr22:31619702-31619703
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr22:31619681-31620179	HepG2	liver:	n/a	n/a
2	FOXA1	chr22:31619679-31620160	HepG2	liver:	n/a	n/a
3	FOXA1	chr22:31619687-31620269	HepG2	liver:	n/a	n/a
4	HEY1	chr22:31619548-31620206	HepG2	liver:	n/a	n/a
5	CEBPB	chr22:31619702-31620194	HepG2	liver:	n/a	chr22:31619940-31619953 chr22:31619941-31619952
6	TEAD4	chr22:31619628-31620308	HepG2	liver:	n/a	n/a
7	FOXA1	chr22:31619606-31620317	HepG2	liver:	n/a	n/a
8	EP300	chr22:31619688-31620329	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31477195..31479122-chr22:31617258..31619966,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-1128P	TF binding region
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1034587	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11089491	0.95[EUR][1000 genomes]
rs11089493	0.81[AMR][1000 genomes]
rs2413030	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs4618154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820944	0.87[CHB][hapmap]
rs4820961	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs5749231	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs5749246	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753474	0.88[CHB][hapmap]
rs5753481	0.90[CEU][hapmap];0.87[CHB][hapmap]
rs5753482	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs5753523	0.81[AMR][1000 genomes]
rs5997921	0.83[AMR][1000 genomes]
rs5997940	1.00[CEU][hapmap];0.92[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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31608800-31639800	Weak transcription	Aorta	Aorta
2	chr22:31609200-31629000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:31609400-31621800	Weak transcription	Fetal Brain Female	brain
4	chr22:31609400-31625400	Weak transcription	NHLF	lung
5	chr22:31609400-31625400	Weak transcription	Osteobl	bone
6	chr22:31609600-31621400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:31609600-31621600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:31609600-31621600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:31609600-31623000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:31609600-31623000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr22:31609600-31623400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr22:31609600-31624000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:31609600-31624800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr22:31609600-31625000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:31609600-31625400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr22:31609600-31625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:31609600-31627200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr22:31609600-31639200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr22:31609800-31620400	Enhancers	Fetal Intestine Large	intestine
20	chr22:31609800-31621400	Weak transcription	Dnd41	blood
21	chr22:31609800-31621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr22:31609800-31629400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr22:31610000-31621600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr22:31610600-31621000	Enhancers	Pancreas	Pancrea
25	chr22:31611800-31620800	Weak transcription	Fetal Stomach	stomach
26	chr22:31612400-31622800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr22:31612600-31621800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr22:31613800-31622800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr22:31614000-31626600	Weak transcription	Fetal Heart	heart
30	chr22:31614200-31620400	Enhancers	Adipose Nuclei	Adipose
31	chr22:31614400-31625200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr22:31614600-31621600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr22:31614800-31625200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr22:31615000-31625000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:31615000-31625000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr22:31615000-31626400	Weak transcription	Fetal Kidney	kidney
37	chr22:31615200-31621400	Weak transcription	HUVEC	blood vessel
38	chr22:31615200-31623000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr22:31615200-31625200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr22:31615200-31625200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr22:31615200-31625200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr22:31615200-31625200	Weak transcription	Left Ventricle	heart
43	chr22:31615200-31625200	Weak transcription	NHDF-Ad	bronchial
44	chr22:31615200-31625400	Weak transcription	Esophagus	oesophagus
45	chr22:31615200-31626200	Weak transcription	HSMMtube	muscle
46	chr22:31615200-31629000	Weak transcription	NH-A	brain
47	chr22:31615400-31620000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:31615400-31621600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr22:31615400-31621600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:31615600-31619800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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