Variant report

Variant	rs59727791
Chromosome Location	chr17:46064090-46064091
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46063889..46066659-chr17:46081400..46084023,2	MCF-7	breast:
2	chr17:46028612..46030985-chr17:46062999..46064940,2	MCF-7	breast:
3	chr17:46050120..46053097-chr17:46063923..46066102,2	K562	blood:
4	chr17:46062866..46064807-chr17:46085131..46087334,2	MCF-7	breast:
5	chr17:46059948..46063060-chr17:46063175..46066138,4	MCF-7	breast:
6	chr17:46062331..46065308-chr17:46079122..46082112,2	K562	blood:
7	chr17:46047143..46050163-chr17:46062880..46067847,6	MCF-7	breast:
8	chr17:46059865..46061717-chr17:46063064..46066103,3	MCF-7	breast:
9	chr17:46062331..46065040-chr17:46080612..46082593,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108465	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs12939977	0.81[AFR][1000 genomes]
rs12941306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12942412	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12944699	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12945188	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12945362	1.00[AMR][1000 genomes]
rs12945768	1.00[AMR][1000 genomes]
rs12947761	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12947966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12948207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952687	1.00[AMR][1000 genomes]
rs34033530	1.00[AMR][1000 genomes]
rs34038169	1.00[AMR][1000 genomes]
rs34153693	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34166016	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34358803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34601263	1.00[AFR][1000 genomes]
rs34632031	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34822864	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34958507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35177469	1.00[AMR][1000 genomes]
rs35273388	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35350665	1.00[AMR][1000 genomes]
rs35534834	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35551276	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35647888	1.00[AMR][1000 genomes]
rs35677091	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35711165	1.00[AMR][1000 genomes]
rs35751035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35766594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35778085	1.00[AMR][1000 genomes]
rs35795560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35848720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35928933	1.00[AMR][1000 genomes]
rs36059789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36090279	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56078988	1.00[AMR][1000 genomes]
rs56363348	1.00[AMR][1000 genomes]
rs57864674	1.00[AMR][1000 genomes]
rs57948485	1.00[AMR][1000 genomes]
rs58974249	1.00[AMR][1000 genomes]
rs59483607	1.00[AMR][1000 genomes]
rs60224300	1.00[AMR][1000 genomes]
rs60525548	1.00[AMR][1000 genomes]
rs6503951	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369826	0.88[AFR][1000 genomes]
rs71377331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71377332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71377334	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71377338	1.00[AMR][1000 genomes]
rs71377341	1.00[AMR][1000 genomes]
rs71377342	1.00[AMR][1000 genomes]
rs71377352	1.00[AMR][1000 genomes]
rs73985416	1.00[AMR][1000 genomes]
rs73985417	1.00[AMR][1000 genomes]
rs73985418	1.00[AMR][1000 genomes]
rs73985419	1.00[AMR][1000 genomes]
rs73985421	1.00[AMR][1000 genomes]
rs73985422	1.00[AMR][1000 genomes]
rs73985424	1.00[AMR][1000 genomes]
rs73985479	1.00[AMR][1000 genomes]
rs8075711	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46049800-46066600	Weak transcription	Small Intestine	intestine
2	chr17:46058200-46064400	Weak transcription	Fetal Kidney	kidney
3	chr17:46059000-46064600	Weak transcription	NHDF-Ad	bronchial
4	chr17:46059400-46064600	Weak transcription	HUVEC	blood vessel
5	chr17:46059400-46064800	Weak transcription	Colon Smooth Muscle	Colon
6	chr17:46059600-46064600	Weak transcription	Psoas Muscle	Psoas
7	chr17:46060400-46064600	Weak transcription	Fetal Lung	lung
8	chr17:46060400-46065200	Weak transcription	Osteobl	bone
9	chr17:46060800-46064800	Weak transcription	Lung	lung
10	chr17:46060800-46064800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr17:46061000-46064400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr17:46061000-46064400	Weak transcription	Stomach Mucosa	stomach
13	chr17:46061000-46064600	Weak transcription	Esophagus	oesophagus
14	chr17:46061000-46064800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr17:46061000-46064800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr17:46061000-46065200	Weak transcription	Brain Substantia Nigra	brain
17	chr17:46061200-46064600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr17:46061200-46064600	Weak transcription	Brain Germinal Matrix	brain
19	chr17:46061200-46064600	Weak transcription	Fetal Heart	heart
20	chr17:46061200-46064800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr17:46061400-46064200	Weak transcription	HSMMtube	muscle
22	chr17:46061400-46064400	Weak transcription	HepG2	liver
23	chr17:46061400-46064600	Weak transcription	HSMM	muscle
24	chr17:46061600-46064600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:46061600-46064600	Weak transcription	Gastric	stomach
26	chr17:46061600-46069200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr17:46061800-46064400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:46061800-46064400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr17:46061800-46064400	Weak transcription	Fetal Brain Female	brain
30	chr17:46061800-46064400	Weak transcription	Pancreas	Pancrea
31	chr17:46061800-46064400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr17:46061800-46064600	Weak transcription	Right Ventricle	heart
33	chr17:46061800-46064800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr17:46061800-46065200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr17:46061800-46065400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr17:46061800-46065800	Weak transcription	K562	blood
37	chr17:46061800-46066000	Weak transcription	GM12878-XiMat	blood
38	chr17:46061800-46066600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr17:46061800-46068200	Weak transcription	NHLF	lung
40	chr17:46061800-46079600	Weak transcription	Right Atrium	heart
41	chr17:46062000-46064200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr17:46062000-46064400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:46062000-46064400	Weak transcription	Placenta	Placenta
44	chr17:46062000-46064600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:46062000-46064600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr17:46062000-46064600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr17:46062000-46064800	Weak transcription	NH-A	brain
48	chr17:46062000-46065200	Weak transcription	NHEK	skin
49	chr17:46062200-46064200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr17:46062200-46064400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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