Variant report

Variant	rs61294750
Chromosome Location	chr1:59286311-59286312
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59243405..59253875-chr1:59275011..59289058,45	MCF-7	breast:
2	chr1:59284595..59286940-chr1:59394772..59397437,2	K562	blood:
3	chr1:59280503..59282768-chr1:59285490..59288010,2	MCF-7	breast:
4	chr1:59285707..59288503-chr1:59364904..59368288,3	K562	blood:
5	chr1:59280191..59282299-chr1:59284813..59286664,3	MCF-7	breast:
6	chr1:59274999..59277916-chr1:59284781..59287379,2	K562	blood:
7	chr1:59248270..59251254-chr1:59285425..59288093,4	K562	blood:
8	chr1:59279457..59282981-chr1:59283687..59286487,4	K562	blood:
9	chr1:59244239..59251448-chr1:59284709..59292858,10	K562	blood:
10	chr1:59284500..59286757-chr1:59305758..59307631,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234807	Chromatin interaction
ENSG00000177606	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]
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]
rs72913585	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59282400-59287000	Weak transcription	Esophagus	oesophagus
2	chr1:59282400-59289200	Weak transcription	Placenta	Placenta
3	chr1:59282400-59289800	Weak transcription	Gastric	stomach
4	chr1:59282400-59290200	Weak transcription	Lung	lung
5	chr1:59282400-59290400	Weak transcription	Pancreas	Pancrea
6	chr1:59282400-59293800	Weak transcription	Aorta	Aorta
7	chr1:59282600-59287000	Weak transcription	Left Ventricle	heart
8	chr1:59282600-59288800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:59282600-59290200	Weak transcription	Ovary	ovary
10	chr1:59282600-59290200	Weak transcription	Right Atrium	heart
11	chr1:59282600-59290200	Weak transcription	Right Ventricle	heart
12	chr1:59282800-59288600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:59282800-59288800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:59282800-59289000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:59282800-59289600	Weak transcription	Small Intestine	intestine
16	chr1:59282800-59290200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:59283000-59289200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:59283000-59290400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:59283000-59291800	Weak transcription	Primary T cells from cord blood	blood
20	chr1:59283200-59293600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:59284000-59289400	Weak transcription	Hela-S3	cervix
22	chr1:59284200-59289400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:59284400-59288800	Weak transcription	HSMM	muscle
24	chr1:59284600-59288600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:59284600-59288600	Weak transcription	HMEC	breast
26	chr1:59284600-59289200	Weak transcription	A549	lung
27	chr1:59285000-59286400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:59285800-59286800	Enhancers	Fetal Heart	heart
29	chr1:59285800-59287000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:59285800-59287400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:59285800-59287600	Weak transcription	NHDF-Ad	bronchial
32	chr1:59285800-59288600	Weak transcription	NH-A	brain
33	chr1:59285800-59288600	Weak transcription	NHLF	lung
34	chr1:59285800-59288600	Weak transcription	Osteobl	bone
35	chr1:59285800-59288800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:59285800-59288800	Weak transcription	NHEK	skin
37	chr1:59285800-59289000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:59285800-59289200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:59285800-59289200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:59285800-59289400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:59285800-59289400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:59285800-59289600	Weak transcription	Adipose Nuclei	Adipose
43	chr1:59285800-59290400	Weak transcription	Fetal Intestine Small	intestine
44	chr1:59286000-59286600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr1:59286000-59288000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:59286000-59288600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:59286000-59288600	Weak transcription	HUVEC	blood vessel
48	chr1:59286000-59288800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:59286000-59289200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:59286000-59289200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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