Variant report

Variant	rs6504084
Chromosome Location	chr17:60188441-60188442
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 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	chr17:60187748..60189307-chr20:54152835..54155153,2	MCF-7	breast:
11	chr17:60186794..60189377-chr20:54157916..54161638,5	MCF-7	breast:
12	chr17:60187813..60190725-chr17:60206302..60210046,4	MCF-7	breast:
13	chr17:60094884..60097281-chr17:60186748..60190045,19	MCF-7	breast:
14	chr17:60188397..60191071-chr17:61039225..61042201,2	MCF-7	breast:
15	chr17:60094632..60096266-chr17:60187770..60189403,13	MCF-7	breast:
16	chr17:60188307..60192311-chr20:62287762..62290776,15	MCF-7	breast:
17	chr17:60187598..60189344-chr17:60255712..60257679,2	MCF-7	breast:
18	chr17:60094562..60096237-chr17:60187742..60189867,14	MCF-7	breast:
19	chr17:60141029..60143438-chr17:60188400..60190520,2	K562	blood:
20	chr17:60141323..60143610-chr17:60188271..60191595,3	MCF-7	breast:
21	chr17:60186752..60188731-chr20:54155316..54157368,2	MCF-7	breast:
22	chr17:60188270..60191171-chr20:55839568..55842239,4	MCF-7	breast:
23	chr17:60187867..60190713-chr20:45768677..45771659,4	MCF-7	breast:
24	chr17:60187076..60192321-chr20:45784789..45789709,12	MCF-7	breast:
25	chr17:60186751..60191502-chr20:54157989..54162123,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108510	Chromatin interaction
ENSG00000026036	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000258366	Chromatin interaction
ENSG00000108506	Chromatin interaction
ENSG00000101144	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10512492	0.90[CEU][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap]
rs11657294	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12450560	1.00[ASW][hapmap];0.90[CEU][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs12452094	0.90[CEU][hapmap]
rs12604037	0.81[CEU][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs16945753	0.90[CEU][hapmap]
rs16945759	1.00[ASW][hapmap];0.90[CEU][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap]
rs16945801	0.89[CEU][hapmap]
rs16945830	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2278812	0.81[MEX][hapmap]
rs3744434	0.81[CEU][hapmap];0.88[GIH][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap]
rs3809753	1.00[ASW][hapmap];0.90[CEU][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap]
rs3826419	0.90[CEU][hapmap]
rs4422036	1.00[ASW][hapmap];0.90[CEU][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap]
rs4522464	0.80[CEU][hapmap];0.84[TSI][hapmap]
rs4968460	1.00[ASW][hapmap];0.81[CEU][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs4968461	0.90[CEU][hapmap]
rs4968467	0.90[CEU][hapmap]
rs4968468	1.00[ASW][hapmap];0.90[CEU][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap]
rs4968476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6416935	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7218724	1.00[ASW][hapmap];0.90[CEU][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs7221089	1.00[ASW][hapmap];0.90[CEU][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap]
rs8065778	0.90[CEU][hapmap]
rs8066964	1.00[ASW][hapmap];0.90[CEU][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap]
rs8067362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8074890	0.90[CEU][hapmap]
rs8081599	0.87[AFR][1000 genomes]
rs8081812	0.92[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs9630736	1.00[ASW][hapmap];0.90[CEU][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap]

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:13 , 50 per page) page: 1

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

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