Variant report

Variant	rs4246418
Chromosome Location	chr17:60182633-60182634
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12952778	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs6504083	0.92[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	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3415630	chr17:60124819-60401635	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv833507	chr17:60174659-60369541	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv469887	chr17:60176679-60381899	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv482579	chr17:60176679-60381899	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr17:60178200-60186800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr17:60179400-60186600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:60179600-60183400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr17:60182200-60182800	Enhancers	Aorta	Aorta
5	chr17:60182200-60183000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr17:60182200-60183000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:60182200-60183400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr17:60182200-60184200	Enhancers	K562	blood
9	chr17:60182400-60183000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr17:60182400-60183000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:60182400-60183000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr17:60182400-60183000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:60182400-60184200	Enhancers	Fetal Intestine Large	intestine
14	chr17:60182400-60184200	Enhancers	HepG2	liver
15	chr17:60182400-60184400	Enhancers	Fetal Intestine Small	intestine
16	chr17:60182600-60183000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:60182600-60183000	Enhancers	Gastric	stomach
18	chr17:60182600-60184800	Enhancers	Liver	Liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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