Variant report

Variant	rs895253
Chromosome Location	chr8:8898704-8898705
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8896936..8899886-chr8:8901457..8903886,3	K562	blood:
2	chr8:8897459..8899671-chr8:8903621..8905460,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10087416	1.00[CHB][hapmap]
rs10091588	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036082	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774244	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775788	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779660	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779804	1.00[ASN][1000 genomes]
rs11780338	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780774	1.00[ASN][1000 genomes]
rs11781203	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.85[LWK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782835	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11784750	1.00[ASN][1000 genomes]
rs13250781	1.00[ASN][1000 genomes]
rs13263364	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13277114	1.00[ASN][1000 genomes]
rs1530484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155334	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17646197	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17700611	1.00[ASN][1000 genomes]
rs17701980	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28510464	0.81[EUR][1000 genomes]
rs28520356	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572014	1.00[ASN][1000 genomes]
rs34293316	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840376	1.00[ASN][1000 genomes]
rs4840391	1.00[ASN][1000 genomes]
rs55824072	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56109025	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56349323	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56400435	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57280925	1.00[ASN][1000 genomes]
rs58802611	0.80[EUR][1000 genomes]
rs59041878	1.00[ASN][1000 genomes]
rs59257214	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60551984	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61397430	1.00[ASN][1000 genomes]
rs61730232	1.00[ASN][1000 genomes]
rs62492947	1.00[ASN][1000 genomes]
rs62493173	0.82[EUR][1000 genomes]
rs62493174	1.00[ASN][1000 genomes]
rs62495491	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62495539	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601282	1.00[CHB][hapmap]
rs6601292	1.00[ASN][1000 genomes]
rs6981610	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6981745	1.00[ASN][1000 genomes]
rs6982619	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6987569	1.00[ASN][1000 genomes]
rs6996374	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001187	1.00[ASN][1000 genomes]
rs73518330	1.00[ASN][1000 genomes]
rs73518392	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357482	1.00[ASN][1000 genomes]
rs73662247	1.00[ASN][1000 genomes]
rs7822129	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826478	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828944	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830266	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7843024	1.00[ASN][1000 genomes]
rs7843154	1.00[ASN][1000 genomes]
rs7843369	1.00[ASN][1000 genomes]
rs7843789	1.00[ASN][1000 genomes]
rs7846007	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9329175	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9329176	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987276	0.92[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs895253	CLDN23	cis	multi-tissue	Pritchard

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
3	chr8:8871200-8900000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:8875400-8901200	Weak transcription	Thymus	Thymus
5	chr8:8877000-8903400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:8881000-8900400	Weak transcription	NH-A	brain
7	chr8:8883600-8902400	Weak transcription	Adipose Nuclei	Adipose
8	chr8:8883800-8906000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr8:8884000-8900200	Weak transcription	Left Ventricle	heart
10	chr8:8884000-8906200	Weak transcription	Psoas Muscle	Psoas
11	chr8:8888400-8910800	Weak transcription	Hela-S3	cervix
12	chr8:8891000-8914800	Weak transcription	Fetal Stomach	stomach
13	chr8:8891400-8915200	Weak transcription	K562	blood
14	chr8:8892000-8901800	Weak transcription	Primary B cells from cord blood	blood
15	chr8:8893800-8913800	Weak transcription	Primary T cells from cord blood	blood
16	chr8:8894600-8899000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:8897400-8898800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:8897400-8899200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:8897600-8898800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr8:8897600-8899400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:8897600-8900200	Enhancers	Placenta	Placenta
22	chr8:8897800-8898800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:8897800-8898800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:8897800-8898800	Enhancers	Fetal Heart	heart
25	chr8:8897800-8902400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:8898000-8899800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:8898000-8902000	Weak transcription	GM12878-XiMat	blood
28	chr8:8898200-8898800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr8:8898200-8898800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr8:8898200-8899200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:8898200-8900000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:8898400-8899200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr8:8898600-8899000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr8:8898600-8899400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr8:8898600-8899800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:8898600-8900000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:8898600-8900000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:8898600-8900200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:8898600-8900200	Weak transcription	NHEK	skin
40	chr8:8898600-8900400	Weak transcription	HMEC	breast
41	chr8:8898600-8905200	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:8898600-8908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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