Variant report

Variant	rs10044680
Chromosome Location	chr5:98138242-98138243
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:98105450..98112138-chr5:98128603..98138411,14	MCF-7	breast:
2	chr5:98134722..98137912-chr5:98138066..98142430,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246763	Chromatin interaction
ENSG00000174136	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10045317	1.00[EUR][1000 genomes]
rs10046011	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10060286	1.00[EUR][1000 genomes]
rs13358830	1.00[EUR][1000 genomes]
rs1382336	1.00[EUR][1000 genomes]
rs1421635	1.00[EUR][1000 genomes]
rs161743	1.00[EUR][1000 genomes]
rs162139	1.00[EUR][1000 genomes]
rs162141	1.00[EUR][1000 genomes]
rs162142	1.00[EUR][1000 genomes]
rs162143	1.00[EUR][1000 genomes]
rs162157	1.00[EUR][1000 genomes]
rs162160	1.00[EUR][1000 genomes]
rs162162	1.00[EUR][1000 genomes]
rs170579	1.00[EUR][1000 genomes]
rs17166187	1.00[EUR][1000 genomes]
rs17166195	1.00[EUR][1000 genomes]
rs17166198	1.00[EUR][1000 genomes]
rs17166210	1.00[EUR][1000 genomes]
rs17166218	1.00[EUR][1000 genomes]
rs17166224	1.00[EUR][1000 genomes]
rs17166397	1.00[EUR][1000 genomes]
rs17166450	1.00[EUR][1000 genomes]
rs17166454	1.00[EUR][1000 genomes]
rs179175	1.00[EUR][1000 genomes]
rs1828171	1.00[EUR][1000 genomes]
rs28782775	1.00[EUR][1000 genomes]
rs325198	1.00[EUR][1000 genomes]
rs325216	1.00[EUR][1000 genomes]
rs327801	1.00[EUR][1000 genomes]
rs327802	1.00[EUR][1000 genomes]
rs327805	1.00[EUR][1000 genomes]
rs451883	1.00[EUR][1000 genomes]
rs57969582	1.00[EUR][1000 genomes]
rs59156696	1.00[EUR][1000 genomes]
rs61578983	1.00[EUR][1000 genomes]
rs6870416	1.00[EUR][1000 genomes]
rs6875233	1.00[EUR][1000 genomes]
rs6891520	1.00[EUR][1000 genomes]
rs73151499	1.00[EUR][1000 genomes]
rs73153514	1.00[EUR][1000 genomes]
rs73153532	1.00[EUR][1000 genomes]
rs73155421	1.00[EUR][1000 genomes]
rs73155423	1.00[EUR][1000 genomes]
rs73777023	1.00[EUR][1000 genomes]
rs7727696	1.00[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	nsv882414	chr5:98063710-98193164	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98123800-98140600	Weak transcription	Brain Substantia Nigra	brain
2	chr5:98129400-98141200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:98130200-98139200	Weak transcription	GM12878-XiMat	blood
4	chr5:98130600-98140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:98130800-98138800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:98130800-98138800	Weak transcription	Fetal Stomach	stomach
7	chr5:98130800-98140200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:98131200-98141400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:98131400-98139800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:98132000-98139800	Weak transcription	NHEK	skin
11	chr5:98132200-98140200	Weak transcription	Fetal Intestine Small	intestine
12	chr5:98132200-98140400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:98132600-98139800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:98132600-98142200	Weak transcription	NHLF	lung
15	chr5:98132600-98154000	Weak transcription	HSMM	muscle
16	chr5:98133200-98139600	Weak transcription	Fetal Muscle Leg	muscle

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