Variant report

Variant	rs7330804
Chromosome Location	chr13:80032779-80032780
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80025882..80028470-chr13:80030398..80033837,6	K562	blood:
2	chr13:80032232..80034241-chr13:80043610..80045706,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10507898	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs10507899	1.00[CEU][hapmap]
rs1335372	0.82[EUR][1000 genomes]
rs17071233	1.00[CEU][hapmap]
rs17071247	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs17071257	1.00[CEU][hapmap]
rs17071385	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17071415	1.00[CEU][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17071499	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17071532	1.00[CEU][hapmap]
rs17071549	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17071558	1.00[CEU][hapmap]
rs17071566	1.00[CEU][hapmap]
rs17071574	1.00[CEU][hapmap]
rs17071585	1.00[CEU][hapmap]
rs17071627	1.00[CEU][hapmap]
rs41288268	0.84[EUR][1000 genomes]
rs57544957	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs57929179	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58056613	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58264675	0.82[EUR][1000 genomes]
rs59755477	0.88[EUR][1000 genomes]
rs59773478	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61318325	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6563107	1.00[CEU][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6563117	1.00[CEU][hapmap]
rs7139902	0.82[EUR][1000 genomes]
rs7318984	0.84[EUR][1000 genomes]
rs7327148	1.00[CEU][hapmap]
rs7329633	0.92[EUR][1000 genomes]
rs7331979	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs7335191	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7338043	1.00[CEU][hapmap]
rs73548948	0.82[EUR][1000 genomes]
rs73548951	0.84[EUR][1000 genomes]
rs73548955	0.84[EUR][1000 genomes]
rs73551558	0.84[EUR][1000 genomes]
rs73553418	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73553448	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73555409	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73564681	0.80[EUR][1000 genomes]
rs73566422	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73566424	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73566435	0.88[EUR][1000 genomes]
rs73566454	0.88[EUR][1000 genomes]
rs73566469	0.95[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7491258	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7981574	1.00[CEU][hapmap]
rs7984159	0.84[EUR][1000 genomes]
rs7984598	0.81[EUR][1000 genomes]
rs7985697	0.84[EUR][1000 genomes]
rs7992181	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7997554	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8000870	1.00[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80020600-80034000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:80026800-80033600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:80027400-80032800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr13:80030200-80033400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:80030400-80033400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:80030400-80033800	Weak transcription	HSMM	muscle
7	chr13:80031600-80033000	Enhancers	HUVEC	blood vessel
8	chr13:80031800-80033000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:80031800-80033000	Enhancers	Hela-S3	cervix
10	chr13:80032000-80032800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:80032000-80032800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr13:80032000-80033000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr13:80032000-80033000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr13:80032000-80033200	Enhancers	K562	blood
15	chr13:80032000-80033200	Enhancers	NH-A	brain
16	chr13:80032000-80034400	Enhancers	NHEK	skin
17	chr13:80032400-80033600	Weak transcription	Osteobl	bone
18	chr13:80032600-80033000	Enhancers	NHLF	lung

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