Variant report

Variant	rs6504083
Chromosome Location	chr17:60188194-60188195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:60003848..60005756-chr17:60187970..60190713,3	MCF-7	breast:
2	chr17:60188080..60190050-chr20:55682221..55684850,3	MCF-7	breast:
3	chr17:60188053..60192385-chr20:45784713..45789778,14	MCF-7	breast:
4	chr17:60095615..60096269-chr17:60188024..60188591,2	MCF-7	breast:
5	chr17:60094719..60096261-chr17:60187728..60188632,14	MCF-7	breast:
6	chr17:60093422..60097278-chr17:60186745..60191637,29	MCF-7	breast:
7	chr17:60186965..60191776-chr20:54152966..54157696,6	MCF-7	breast:
8	chr17:60095214..60096265-chr17:60187776..60188537,6	MCF-7	breast:
9	chr17:60186973..60190925-chr20:55681139..55684614,3	MCF-7	breast:
10	chr17:60095619..60096175-chr17:60187742..60188393,2	MCF-7	breast:
11	chr17:60187748..60189307-chr20:54152835..54155153,2	MCF-7	breast:
12	chr17:60186794..60189377-chr20:54157916..54161638,5	MCF-7	breast:
13	chr17:60187813..60190725-chr17:60206302..60210046,4	MCF-7	breast:
14	chr17:60094884..60097281-chr17:60186748..60190045,19	MCF-7	breast:
15	chr17:60094632..60096266-chr17:60187770..60189403,13	MCF-7	breast:
16	chr17:60187598..60189344-chr17:60255712..60257679,2	MCF-7	breast:
17	chr17:60094562..60096237-chr17:60187742..60189867,14	MCF-7	breast:
18	chr17:60187828..60188432-chr20:54159730..54160314,2	MCF-7	breast:
19	chr17:60186752..60188731-chr20:54155316..54157368,2	MCF-7	breast:
20	chr17:60187867..60190713-chr20:45768677..45771659,4	MCF-7	breast:
21	chr17:60187076..60192321-chr20:45784789..45789709,12	MCF-7	breast:
22	chr17:60186751..60191502-chr20:54157989..54162123,8	MCF-7	breast:
23	chr17:60183378..60185316-chr17:60186593..60188415,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108506	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12952778	0.88[AFR][1000 genomes]
rs16945766	1.00[EUR][1000 genomes]
rs4246418	0.92[AFR][1000 genomes]
rs73991955	1.00[EUR][1000 genomes]
rs8068199	1.00[EUR][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60184200-60188400	Weak transcription	Fetal Intestine Large	intestine
2	chr17:60184200-60189200	Weak transcription	K562	blood
3	chr17:60184400-60188200	Weak transcription	Fetal Intestine Small	intestine
4	chr17:60186600-60188800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr17:60186600-60189200	Enhancers	HepG2	liver
6	chr17:60186800-60188200	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr17:60186800-60189800	Enhancers	A549	lung
8	chr17:60187000-60189000	Weak transcription	GM12878-XiMat	blood
9	chr17:60187000-60189800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:60187200-60188400	Weak transcription	Stomach Mucosa	stomach
11	chr17:60187400-60189600	Enhancers	Duodenum Mucosa	Duodenum
12	chr17:60188000-60189400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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