Variant report

Variant	rs73296078
Chromosome Location	chr17:19891335-19891336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19879140..19882624-chr17:19888805..19891417,3	K562	blood:

Variant related genes	Relation type
ENSG00000108599	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12325682	0.95[AFR][1000 genomes]
rs12325689	0.86[AFR][1000 genomes]
rs59774597	0.95[AFR][1000 genomes]
rs60818106	0.88[AFR][1000 genomes]
rs61093861	0.85[AFR][1000 genomes]
rs61612850	0.80[AFR][1000 genomes]
rs61655182	0.85[AFR][1000 genomes]
rs73296034	0.90[AFR][1000 genomes]
rs73296042	0.95[AFR][1000 genomes]
rs73296051	0.93[AFR][1000 genomes]
rs73296074	0.95[AFR][1000 genomes]
rs73303985	0.85[AFR][1000 genomes]
rs9652900	1.00[AFR][1000 genomes]
rs9652901	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19889400-19892200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:19890200-19891400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:19890200-19891400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr17:19890400-19891400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr17:19890400-19891400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr17:19890400-19891800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr17:19890400-19892000	Enhancers	K562	blood
8	chr17:19890600-19891400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:19890600-19891400	Bivalent Enhancer	HepG2	liver
10	chr17:19890600-19899800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr17:19890800-19891400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr17:19890800-19896400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr17:19890800-19899400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:19890800-19899800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:19890800-19899800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr17:19891000-19891400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr17:19891000-19891400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr17:19891000-19894000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr17:19891000-19894200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:19891200-19891800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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