Variant report

Variant	rs7814219
Chromosome Location	chr8:48988097-48988098
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48871660..48873986-chr8:48986184..48988577,2	MCF-7	breast:
2	chr8:48987869..48989634-chr8:48998371..48999991,2	MCF-7	breast:
3	chr8:48984328..48988098-chr8:48992508..48996504,3	K562	blood:
4	chr8:48965207..48966957-chr8:48986549..48988912,2	K562	blood:
5	chr8:48982765..48984545-chr8:48987553..48989325,2	K562	blood:

Variant related genes	Relation type
ENSG00000253729	Chromatin interaction
ENSG00000104738	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11988128	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11993362	1.00[ASW][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.90[YRI][hapmap]
rs11995532	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17287656	1.00[GIH][hapmap]
rs17334388	1.00[GIH][hapmap]
rs4339672	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4389967	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4493931	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6473933	0.87[ASW][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.90[YRI][hapmap]
rs7006151	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7838641	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8178009	1.00[GIH][hapmap]
rs8178033	0.90[YRI][hapmap]
rs8178057	0.89[GIH][hapmap]
rs8178098	0.90[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak 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 target site	17 gene(s)	inside rSNPs	diseases
3	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers 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 target site	17 gene(s)	inside rSNPs	diseases
4	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv890850	chr8:48954143-49018790	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv890851	chr8:48954143-49031082	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1793797	chr8:48955683-48992093	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv890852	chr8:48964607-49022082	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv890853	chr8:48964607-49031082	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1025169	chr8:48965133-49024711	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1020050	chr8:48965133-49028634	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv1033298	chr8:48965133-49048832	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48975200-48988800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:48975800-48990400	Weak transcription	Pancreas	Pancrea
3	chr8:48986000-48988800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:48986200-48988200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:48986200-48988200	Enhancers	NHDF-Ad	bronchial
6	chr8:48986200-48988400	Enhancers	NH-A	brain
7	chr8:48986400-48988200	Enhancers	HSMMtube	muscle
8	chr8:48986400-48989400	Enhancers	HMEC	breast
9	chr8:48986600-48988400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:48986600-48988600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:48986600-48989200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:48986800-48988800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:48986800-48989200	Enhancers	NHEK	skin
14	chr8:48986800-48989400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:48987000-48988400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:48987200-48988200	Flanking Active TSS	HSMM	muscle
17	chr8:48987400-48988200	Enhancers	NHLF	lung
18	chr8:48987400-48988200	Flanking Active TSS	Osteobl	bone
19	chr8:48987800-48988200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:48987800-48988200	Enhancers	Ovary	ovary
21	chr8:48987800-48988400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:48987800-48988800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:48987800-48988800	Enhancers	HepG2	liver
24	chr8:48987800-48989000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:48987800-48989200	Enhancers	A549	lung
26	chr8:48987800-48989400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:48988000-48988200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:48988000-48988200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr8:48988000-48989000	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links