Variant report

Variant	rs7285716
Chromosome Location	chr22:31650595-31650596
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr22:31649653-31650638	ECC-1	luminal epithelium:	n/a	chr22:31650098-31650105
2	TCF12	chr22:31649696-31650605	ECC-1	luminal epithelium:	n/a	chr22:31650098-31650105
3	EP300	chr22:31649780-31650636	ECC-1	luminal epithelium:	n/a	n/a
4	MEF2A	chr22:31650556-31650849	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31647946..31651583-chr22:31664654..31669307,6	MCF-7	breast:
2	chr22:31646269..31648864-chr22:31648933..31651517,2	K562	blood:
3	chr22:31649511..31653218-chr22:31654598..31656473,4	K562	blood:
4	chr22:31641781..31645850-chr22:31646160..31651289,6	K562	blood:
5	chr22:31650004..31651971-chr22:31654297..31656303,2	K562	blood:
6	chr22:31595726..31597775-chr22:31650124..31651953,2	MCF-7	breast:
7	chr22:31642735..31647195-chr22:31648732..31652815,10	MCF-7	breast:
8	chr22:31638486..31641770-chr22:31648359..31651632,4	MCF-7	breast:
9	chr22:31635703..31637770-chr22:31648777..31650982,3	MCF-7	breast:
10	chr22:31647158..31653046-chr22:31656106..31660182,9	MCF-7	breast:

No data

Variant related genes	Relation type
LIMK2	TF binding region
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11089493	0.86[EUR][1000 genomes]
rs11089495	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11089496	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1123705	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1138706	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11556237	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703005	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11703576	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11704523	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989469	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985726	0.83[AMR][1000 genomes]
rs2057951	0.81[EUR][1000 genomes]
rs4293639	0.82[EUR][1000 genomes]
rs55837074	0.87[EUR][1000 genomes]
rs56292834	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57523999	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5753523	0.89[EUR][1000 genomes]
rs5994386	0.82[EUR][1000 genomes]
rs5994387	0.82[EUR][1000 genomes]
rs5997917	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997921	0.84[EUR][1000 genomes]
rs5997924	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997930	0.83[AFR][1000 genomes]
rs5997942	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5997948	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5997956	0.82[EUR][1000 genomes]
rs5997965	0.82[EUR][1000 genomes]
rs713619	0.81[EUR][1000 genomes]
rs7285027	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7287715	0.87[EUR][1000 genomes]
rs739428	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8143159	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8595	1.00[ASN][1000 genomes]
rs9680708	0.81[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31644200-31665800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:31644600-31654200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr22:31644600-31654200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr22:31644600-31654400	Weak transcription	K562	blood
5	chr22:31644600-31658000	Weak transcription	Psoas Muscle	Psoas
6	chr22:31644600-31668600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr22:31644800-31650800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr22:31644800-31654400	Weak transcription	Liver	Liver
9	chr22:31644800-31654800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr22:31645000-31654200	Weak transcription	Fetal Brain Female	brain
11	chr22:31645000-31654400	Weak transcription	Brain Germinal Matrix	brain
12	chr22:31645000-31668400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr22:31645000-31668600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr22:31645000-31677600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:31645200-31654400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr22:31645200-31654800	Weak transcription	Fetal Lung	lung
17	chr22:31645200-31667000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr22:31645400-31654000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr22:31645400-31654000	Weak transcription	Dnd41	blood
20	chr22:31645400-31654200	Weak transcription	Brain Angular Gyrus	brain
21	chr22:31645400-31661800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr22:31645600-31654400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr22:31645600-31654600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr22:31645800-31651400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr22:31645800-31654000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr22:31645800-31654000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr22:31645800-31654200	Weak transcription	Colon Smooth Muscle	Colon
28	chr22:31645800-31654400	Weak transcription	NHLF	lung
29	chr22:31645800-31654600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr22:31645800-31654800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr22:31646000-31654200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr22:31646400-31654200	Weak transcription	Brain Hippocampus Middle	brain
33	chr22:31646400-31654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr22:31646600-31651000	Weak transcription	HSMM	muscle
35	chr22:31646600-31654200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:31646600-31654200	Weak transcription	Ovary	ovary
37	chr22:31646600-31655400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:31646800-31650600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
39	chr22:31646800-31654000	Weak transcription	Primary B cells from cord blood	blood
40	chr22:31646800-31654000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:31646800-31655000	Weak transcription	Aorta	Aorta
42	chr22:31647000-31650600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr22:31647000-31654000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:31647000-31654200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:31647000-31654200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr22:31647200-31651800	Genic enhancers	Fetal Intestine Small	intestine
47	chr22:31647200-31654000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:31647200-31654200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr22:31647200-31654200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr22:31647200-31654800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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