Variant report

Variant	rs272496
Chromosome Location	chr1:86818572-86818573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86817766..86820014-chr1:86820204..86822305,3	K562	blood:
2	chr1:86817633..86819266-chr1:86820612..86822159,2	K562	blood:

Variant related genes	Relation type
ENSG00000122417	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10493790	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11161810	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11161812	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11161814	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11161816	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11161817	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1158833	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1182098	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1182099	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1182101	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119411	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12123660	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12125965	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12130284	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12145243	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12403033	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12406320	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1323036	0.82[AMR][1000 genomes]
rs1413431	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1413432	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17409213	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17409304	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17449526	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1931360	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1931361	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1931362	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs272486	0.80[AMR][1000 genomes]
rs272488	0.94[ASN][1000 genomes]
rs272489	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272490	0.97[ASN][1000 genomes]
rs272493	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272495	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272497	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272499	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272500	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs272501	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272505	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272506	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs272509	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272512	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272514	0.87[EUR][1000 genomes]
rs272515	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272518	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35489949	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3737673	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3765983	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs421105	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs423991	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5026277	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56104000	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56408800	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57210989	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61124915	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6688340	0.82[AMR][1000 genomes]
rs72720129	0.81[EUR][1000 genomes]
rs977919	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871866	chr1:86726619-86851420	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
5	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	esv1792405	chr1:86814270-86825639	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86806400-86823600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:86808600-86842800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:86810400-86819200	Weak transcription	NHLF	lung
4	chr1:86810600-86819200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:86810800-86818600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:86810800-86819400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:86811200-86818800	Weak transcription	Fetal Thymus	thymus
8	chr1:86811200-86819000	Weak transcription	Fetal Lung	lung
9	chr1:86811600-86819000	Weak transcription	Brain Angular Gyrus	brain
10	chr1:86812000-86819200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:86813000-86819200	Weak transcription	Left Ventricle	heart
12	chr1:86813200-86819200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:86813600-86819400	Weak transcription	Osteobl	bone
14	chr1:86813800-86836400	Weak transcription	Lung	lung
15	chr1:86813800-86842600	Weak transcription	Fetal Heart	heart
16	chr1:86815000-86819000	Weak transcription	Fetal Intestine Large	intestine
17	chr1:86815200-86819000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:86815200-86860200	Weak transcription	Fetal Brain Male	brain
19	chr1:86815600-86819400	Weak transcription	Aorta	Aorta
20	chr1:86816000-86819200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:86816000-86819400	Weak transcription	Brain Germinal Matrix	brain
22	chr1:86816000-86842400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:86816200-86819200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:86816200-86824200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:86816200-86826200	Weak transcription	A549	lung
26	chr1:86816400-86818800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:86816400-86819000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:86816400-86820400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:86816600-86818800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:86816600-86819000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:86816800-86818600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:86816800-86819200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:86817000-86818600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:86817000-86819200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:86817200-86818800	Weak transcription	Colonic Mucosa	Colon
36	chr1:86817200-86818800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:86817200-86818800	Weak transcription	Placenta	Placenta
38	chr1:86817200-86818800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:86817200-86818800	Weak transcription	Hela-S3	cervix
40	chr1:86817200-86819200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:86817200-86820400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:86817200-86820400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:86817200-86843800	Weak transcription	Small Intestine	intestine
44	chr1:86817400-86819000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:86817400-86819000	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:86817400-86819000	Weak transcription	NHEK	skin
47	chr1:86817400-86819200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:86817400-86819200	Weak transcription	Spleen	Spleen
49	chr1:86817400-86819200	Weak transcription	HSMMtube	muscle
50	chr1:86817400-86820600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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