Variant report

Variant	rs1112364
Chromosome Location	chr17:60242349-60242350
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	chr17:60241355..60244140-chr17:60255919..60257543,2	K562	blood:
2	chr17:60182405..60184267-chr17:60241303..60242946,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4968412	0.93[ASN][1000 genomes]
rs4968413	0.92[ASN][1000 genomes]
rs4968414	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	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
6	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
7	nsv575844	chr17:60199130-60434267	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1055856	chr17:60202722-60408137	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv543401	chr17:60202722-60408137	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60232800-60242600	Weak transcription	Small Intestine	intestine
2	chr17:60238600-60243600	Enhancers	Stomach Mucosa	stomach
3	chr17:60240400-60243200	Enhancers	K562	blood
4	chr17:60240400-60243800	Enhancers	Duodenum Mucosa	Duodenum
5	chr17:60240400-60243800	Enhancers	Hela-S3	cervix
6	chr17:60240400-60244200	Enhancers	Fetal Intestine Large	intestine
7	chr17:60240600-60244200	Enhancers	Fetal Intestine Small	intestine
8	chr17:60241000-60244000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr17:60241200-60242400	Enhancers	HepG2	liver
10	chr17:60241200-60242800	Enhancers	Liver	Liver
11	chr17:60241600-60242800	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr17:60241600-60243000	Weak transcription	Placenta	Placenta
13	chr17:60241600-60255800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:60242200-60242400	Enhancers	A549	lung
15	chr17:60242200-60242600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:60242200-60242600	Enhancers	GM12878-XiMat	blood
17	chr17:60242200-60242800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr17:60242200-60243000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr17:60242200-60243400	Enhancers	Primary T cells from cord blood	blood
20	chr17:60242200-60243400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:60242200-60243800	Enhancers	Muscle Satellite Cultured Cells	--

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