Variant report

Variant	rs3935438
Chromosome Location	chr17:60256715-60256716
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:60186598..60188034-chr17:60256263..60257987,14	MCF-7	breast:
2	chr17:60255980..60258694-chr17:60266077..60267874,2	MCF-7	breast:
3	chr17:60004079..60006235-chr17:60254598..60258700,3	MCF-7	breast:
4	chr17:60187598..60189344-chr17:60255712..60257679,2	MCF-7	breast:
5	chr17:60255625..60257786-chr17:60266377..60268495,2	MCF-7	breast:
6	chr17:60247352..60252279-chr17:60252798..60257282,6	MCF-7	breast:
7	chr17:60249385..60251655-chr17:60256547..60258205,3	K562	blood:
8	chr17:60249202..60250885-chr17:60256165..60258121,2	K562	blood:
9	chr17:60241355..60244140-chr17:60255919..60257543,2	K562	blood:
10	chr17:60255133..60257940-chr17:60262208..60263718,3	MCF-7	breast:
11	chr17:60145133..60145885-chr17:60256686..60257397,2	MCF-7	breast:
12	chr17:60245751..60247782-chr17:60254407..60256973,2	K562	blood:
13	chr17:60245507..60247251-chr17:60254407..60257109,2	K562	blood:
14	chr17:60255796..60259990-chr17:60264075..60265967,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108506	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12373175	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28735500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73991991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8068839	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8069151	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9892455	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9898945	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9911013	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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
10	nsv978449	chr17:60250217-60275707	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60255600-60257600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:60255600-60257600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr17:60255600-60257600	Enhancers	Hela-S3	cervix
4	chr17:60255600-60258200	Enhancers	Placenta	Placenta
5	chr17:60255800-60256800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr17:60255800-60257200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr17:60255800-60257200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr17:60255800-60257200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr17:60255800-60257200	Enhancers	NH-A	brain
10	chr17:60255800-60257400	Enhancers	Osteobl	bone
11	chr17:60255800-60257600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:60255800-60257600	Enhancers	A549	lung
13	chr17:60255800-60257600	Enhancers	HMEC	breast
14	chr17:60255800-60257600	Enhancers	HUVEC	blood vessel
15	chr17:60255800-60257600	Enhancers	NHEK	skin
16	chr17:60255800-60258400	Enhancers	K562	blood
17	chr17:60256000-60257200	Enhancers	NHLF	lung
18	chr17:60256000-60257400	Enhancers	HSMMtube	muscle
19	chr17:60256000-60257600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:60256200-60256800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:60256200-60257000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr17:60256200-60257200	Weak transcription	Fetal Intestine Large	intestine
23	chr17:60256200-60257400	Enhancers	HSMM	muscle
24	chr17:60256200-60257800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:60256400-60257600	Enhancers	Fetal Intestine Small	intestine
26	chr17:60256400-60257600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr17:60256600-60257200	Weak transcription	NHDF-Ad	bronchial

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