Variant report

Variant	rs7863623
Chromosome Location	chr9:21548586-21548587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10120766	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10124767	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10491566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10965048	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1332181	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1591035	0.83[ASN][1000 genomes]
rs2025327	0.85[ASN][1000 genomes]
rs2025328	0.85[ASN][1000 genomes]
rs2039378	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2039379	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2146797	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2183904	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2210437	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6475538	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs720975	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs725074	0.83[ASN][1000 genomes]
rs7868724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892740	chr9:21471499-21551513	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	110 gene(s)	inside rSNPs	diseases
2	nsv1031432	chr9:21472601-21608774	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
3	nsv540085	chr9:21472601-21608774	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
4	nsv892741	chr9:21517302-21551513	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1029634	chr9:21542970-21765286	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21507200-21551400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:21529000-21551400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:21536400-21552200	Weak transcription	Gastric	stomach
4	chr9:21536600-21549600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:21542200-21551800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:21543400-21551600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr9:21543600-21549000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:21543600-21552200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:21544600-21548800	Weak transcription	Fetal Intestine Small	intestine
10	chr9:21545000-21550000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:21545200-21548600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr9:21545600-21549000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr9:21545600-21555600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:21546400-21553600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:21546800-21548800	Enhancers	HUVEC	blood vessel
16	chr9:21546800-21549000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr9:21546800-21549400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:21547000-21550600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr9:21547000-21553400	Transcr. at gene 5' and 3'	HMEC	breast
20	chr9:21547200-21548600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:21547400-21551000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr9:21547800-21549400	Enhancers	NHDF-Ad	bronchial
23	chr9:21547800-21550000	Flanking Active TSS	A549	lung
24	chr9:21548000-21548800	Enhancers	NHLF	lung
25	chr9:21548000-21549000	Enhancers	NH-A	brain
26	chr9:21548200-21549200	Genic enhancers	HSMM	muscle
27	chr9:21548200-21549400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr9:21548200-21549400	Enhancers	Duodenum Mucosa	Duodenum
29	chr9:21548200-21551000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:21548400-21548600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:21548400-21548600	Enhancers	Fetal Intestine Large	intestine
32	chr9:21548400-21548600	Enhancers	Psoas Muscle	Psoas
33	chr9:21548400-21548800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:21548400-21549000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr9:21548400-21549200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:21548400-21549200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:21548400-21549200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr9:21548400-21549200	Flanking Active TSS	Osteobl	bone
39	chr9:21548400-21549400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:21548400-21551400	Flanking Active TSS	Hela-S3	cervix
41	chr9:21548400-21553800	Enhancers	Stomach Mucosa	stomach
42	chr9:21548400-21553800	Transcr. at gene 5' and 3'	NHEK	skin
43	chr9:21548400-21558200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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