Variant report

Variant	rs72913585
Chromosome Location	chr1:59288367-59288368
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59279353..59283854-chr1:59287313..59291525,6	MCF-7	breast:
2	chr1:59280920..59283588-chr1:59288340..59291242,3	MCF-7	breast:
3	chr1:59248663..59251846-chr1:59288287..59291612,4	K562	blood:
4	chr1:59243405..59253875-chr1:59275011..59289058,45	MCF-7	breast:
5	chr1:59285707..59288503-chr1:59364904..59368288,3	K562	blood:
6	chr1:59287687..59290798-chr1:59294339..59296428,3	K562	blood:
7	chr1:59244239..59251448-chr1:59284709..59292858,10	K562	blood:
8	chr1:59279921..59284497-chr1:59286325..59289409,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs3885883	1.00[EUR][1000 genomes]
rs56047424	1.00[EUR][1000 genomes]
rs57500803	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59164731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59193866	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59558908	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60869213	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61294750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61659376	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72909646	1.00[AMR][1000 genomes]
rs72911506	1.00[AMR][1000 genomes]
rs72911514	1.00[AMR][1000 genomes]
rs72911516	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911521	1.00[EUR][1000 genomes]
rs72911524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911526	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911528	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911533	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911535	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911538	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911540	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911542	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911543	1.00[EUR][1000 genomes]
rs72911546	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911550	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911552	1.00[EUR][1000 genomes]
rs72911557	1.00[AMR][1000 genomes]
rs72911559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913573	1.00[EUR][1000 genomes]
rs72913576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913598	1.00[EUR][1000 genomes]
rs72913599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915510	1.00[AFR][1000 genomes]
rs72915521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919573	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72919582	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72919585	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72919586	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7519169	1.00[EUR][1000 genomes]
rs9282771	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1014087	chr1:59286306-59334393	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59282400-59289200	Weak transcription	Placenta	Placenta
2	chr1:59282400-59289800	Weak transcription	Gastric	stomach
3	chr1:59282400-59290200	Weak transcription	Lung	lung
4	chr1:59282400-59290400	Weak transcription	Pancreas	Pancrea
5	chr1:59282400-59293800	Weak transcription	Aorta	Aorta
6	chr1:59282600-59288800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:59282600-59290200	Weak transcription	Ovary	ovary
8	chr1:59282600-59290200	Weak transcription	Right Atrium	heart
9	chr1:59282600-59290200	Weak transcription	Right Ventricle	heart
10	chr1:59282800-59288600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:59282800-59288800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:59282800-59289000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:59282800-59289600	Weak transcription	Small Intestine	intestine
14	chr1:59282800-59290200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:59283000-59289200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:59283000-59290400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:59283000-59291800	Weak transcription	Primary T cells from cord blood	blood
18	chr1:59283200-59293600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:59284000-59289400	Weak transcription	Hela-S3	cervix
20	chr1:59284200-59289400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:59284400-59288800	Weak transcription	HSMM	muscle
22	chr1:59284600-59288600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:59284600-59288600	Weak transcription	HMEC	breast
24	chr1:59284600-59289200	Weak transcription	A549	lung
25	chr1:59285800-59288600	Weak transcription	NH-A	brain
26	chr1:59285800-59288600	Weak transcription	NHLF	lung
27	chr1:59285800-59288600	Weak transcription	Osteobl	bone
28	chr1:59285800-59288800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:59285800-59288800	Weak transcription	NHEK	skin
30	chr1:59285800-59289000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:59285800-59289200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:59285800-59289200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:59285800-59289400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:59285800-59289400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:59285800-59289600	Weak transcription	Adipose Nuclei	Adipose
36	chr1:59285800-59290400	Weak transcription	Fetal Intestine Small	intestine
37	chr1:59286000-59288600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:59286000-59288600	Weak transcription	HUVEC	blood vessel
39	chr1:59286000-59288800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:59286000-59289200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:59286000-59289200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:59286000-59289600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:59286400-59289200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr1:59286600-59289200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr1:59286800-59289200	Weak transcription	Fetal Heart	heart
46	chr1:59287200-59289600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:59287400-59290200	Weak transcription	Left Ventricle	heart
48	chr1:59287400-59291000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:59287600-59288800	Weak transcription	Stomach Mucosa	stomach
50	chr1:59287600-59290400	Enhancers	NHDF-Ad	bronchial

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