Variant report

Variant	rs17683699
Chromosome Location	chr7:122431452-122431453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2428775	1.00[CHD][hapmap]
rs6973517	0.89[CEU][hapmap];1.00[GIH][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs715205	0.89[CEU][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73222408	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv532218	chr7:122360779-122934247	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1033520	chr7:122366544-122992937	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv949059	chr7:122386967-123066042	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv948531	chr7:122386967-123191974	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv949180	chr7:122386967-123237070	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv524192	chr7:122403421-123218522	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv498124	chr7:122412493-122986259	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17683699	C21orf56	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122407600-122432000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:122409600-122432200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:122422800-122432200	Weak transcription	Liver	Liver
4	chr7:122425600-122451200	Weak transcription	Stomach Mucosa	stomach
5	chr7:122428000-122433800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:122428600-122431800	Weak transcription	HepG2	liver
7	chr7:122429000-122433000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:122429200-122432000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:122429200-122434400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:122429400-122432800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:122430400-122432000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:122430600-122433400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:122431000-122433000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:122431000-122433000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:122431000-122440600	Weak transcription	Fetal Heart	heart
16	chr7:122431200-122432000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:122431200-122434600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:122431400-122431800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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