Variant report

Variant	rs9288747
Chromosome Location	chr3:195165420-195165421
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr3:195161872-195165526	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195164614..195167496-chr3:195169106..195172382,4	K562	blood:
2	chr3:195162578..195166480-chr3:195268710..195271525,3	K562	blood:
3	chr3:194892527..194894676-chr3:195164792..195166496,2	K562	blood:
4	chr3:195160742..195163180-chr3:195164392..195166055,3	K562	blood:
5	chr3:195164614..195167502-chr3:195169044..195171295,4	K562	blood:
6	chr3:194980181..194984046-chr3:195161738..195167079,6	K562	blood:
7	chr3:195160703..195163180-chr3:195164139..195166055,4	K562	blood:

No data

Variant related genes	Relation type
ACAP2	TF binding region
ENSG00000173950	Chromatin interaction
ENSG00000223711	Chromatin interaction
ENSG00000184203	Chromatin interaction
ENSG00000114331	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10933706	0.80[ASN][1000 genomes]
rs11927933	0.93[ASN][1000 genomes]
rs13062574	0.80[ASN][1000 genomes]
rs1832667	0.81[ASN][1000 genomes]
rs2050809	0.80[ASN][1000 genomes]
rs2050810	0.86[ASN][1000 genomes]
rs2410839	0.86[ASN][1000 genomes]
rs2410840	0.80[ASN][1000 genomes]
rs28375276	0.86[ASN][1000 genomes]
rs28688106	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3087885	0.86[ASN][1000 genomes]
rs3773418	0.86[ASN][1000 genomes]
rs4677671	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4677820	0.80[ASN][1000 genomes]
rs4677825	0.80[ASN][1000 genomes]
rs4677830	0.80[ASN][1000 genomes]
rs58204696	0.86[ASN][1000 genomes]
rs6437467	0.80[ASN][1000 genomes]
rs6780743	0.86[ASN][1000 genomes]
rs6791943	0.86[ASN][1000 genomes]
rs6792029	0.86[ASN][1000 genomes]
rs6795263	0.86[ASN][1000 genomes]
rs73080837	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73080839	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7610022	0.86[ASN][1000 genomes]
rs7612694	0.80[ASN][1000 genomes]
rs7638924	0.80[ASN][1000 genomes]
rs7643947	0.80[ASN][1000 genomes]
rs7644002	0.80[ASN][1000 genomes]
rs7649142	0.86[ASN][1000 genomes]
rs823297	0.86[ASN][1000 genomes]
rs823298	0.93[ASN][1000 genomes]
rs823299	0.93[ASN][1000 genomes]
rs823303	0.86[ASN][1000 genomes]
rs823304	0.86[ASN][1000 genomes]
rs823305	0.81[ASN][1000 genomes]
rs823307	0.86[ASN][1000 genomes]
rs823308	0.86[ASN][1000 genomes]
rs823309	0.86[ASN][1000 genomes]
rs823312	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs823313	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs823528	0.87[ASN][1000 genomes]
rs823533	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs823534	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs823536	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs862066	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9831944	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9832920	0.86[ASN][1000 genomes]
rs9860389	0.80[ASN][1000 genomes]
rs9863901	0.86[ASN][1000 genomes]
rs9878312	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
2	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
3	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
4	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
6	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
7	nsv1005519	chr3:194964301-195340515	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv432511	chr3:194986167-195479748	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
9	nsv432512	chr3:195007260-195475989	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
10	nsv878138	chr3:195057001-195477791	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
11	nsv1006229	chr3:195071421-195474751	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
12	esv2754364	chr3:195102703-195553690	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
13	esv2757028	chr3:195102787-195479748	Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
14	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
15	nsv432513	chr3:195121072-195478861	Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
16	nsv432514	chr3:195121110-195478861	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
17	nsv432515	chr3:195121110-195528226	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
18	nsv829824	chr3:195131067-195286698	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195163800-195166600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:195164400-195165600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr3:195164600-195165600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr3:195164600-195166600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:195164600-195166600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:195164600-195166800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:195164600-195166800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:195164600-195167200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:195164600-195170800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:195164600-195171000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:195164600-195171200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:195164800-195165600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr3:195164800-195166600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:195164800-195166600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:195164800-195166600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:195164800-195166800	Weak transcription	Primary B cells from cord blood	blood
17	chr3:195164800-195166800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:195164800-195166800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr3:195164800-195167000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:195164800-195167000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:195164800-195167000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:195164800-195167000	Weak transcription	Stomach Mucosa	stomach
23	chr3:195164800-195167200	Weak transcription	Fetal Intestine Large	intestine
24	chr3:195164800-195167400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr3:195164800-195167800	Weak transcription	Fetal Intestine Small	intestine
26	chr3:195165000-195166400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr3:195165000-195166800	Weak transcription	Fetal Thymus	thymus
28	chr3:195165000-195166800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr3:195165000-195167200	Enhancers	Primary T cells from cord blood	blood
30	chr3:195165200-195166400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr3:195165200-195166400	Weak transcription	GM12878-XiMat	blood
32	chr3:195165200-195166800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:195165200-195166800	Weak transcription	HepG2	liver
34	chr3:195165200-195167000	Weak transcription	K562	blood
35	chr3:195165400-195166600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr3:195165400-195166800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr3:195165400-195166800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:195165400-195166800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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