Variant report

Variant	rs279706
Chromosome Location	chr7:121767153-121767154
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	chr7:121766737..121769191-chr7:121770279..121772578,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1147492	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1147493	0.84[ASN][1000 genomes]
rs1206351	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206352	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1206353	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1206354	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1206356	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1206357	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1206358	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1206359	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1206360	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1206363	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1206364	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1206367	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1206368	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1206369	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1206373	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1206374	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1206376	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1206379	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1206380	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1206382	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12217	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1725066	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1860507	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533862	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs279663	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs279664	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs279666	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs279667	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs279668	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs279669	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs279671	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs279674	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs279675	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs279677	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs279681	0.81[ASN][1000 genomes]
rs279699	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs279704	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs758692	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs969549	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019004	chr7:121733372-121800380	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034553	chr7:121734934-121800380	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv608335	chr7:121749963-121779485	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv523632	chr7:121754695-121802068	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121685000-121772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:121716000-121772000	Weak transcription	Osteobl	bone
3	chr7:121716000-121775600	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:121726000-121774400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:121726000-121776000	Weak transcription	Fetal Stomach	stomach
6	chr7:121731800-121770400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:121732000-121773600	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr7:121743000-121770200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:121743800-121776200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:121744600-121783200	Weak transcription	Lung	lung
11	chr7:121744800-121775200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:121744800-121776800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:121745600-121774000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:121747800-121775800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:121747800-121776200	Weak transcription	Fetal Brain Male	brain
16	chr7:121750000-121776600	Weak transcription	Psoas Muscle	Psoas
17	chr7:121750200-121773600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:121750200-121775400	Weak transcription	Gastric	stomach
19	chr7:121750400-121775800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:121750800-121769000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:121750800-121775400	Weak transcription	Small Intestine	intestine
22	chr7:121753800-121768000	Weak transcription	HSMM	muscle
23	chr7:121753800-121776200	Weak transcription	NH-A	brain
24	chr7:121755200-121768400	Weak transcription	HepG2	liver
25	chr7:121755200-121772000	Weak transcription	NHEK	skin
26	chr7:121755200-121776200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:121755200-121776800	Weak transcription	Aorta	Aorta
28	chr7:121755400-121769600	Weak transcription	Fetal Intestine Small	intestine
29	chr7:121756400-121772000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:121756600-121772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:121756600-121776600	Weak transcription	Brain Angular Gyrus	brain
32	chr7:121756600-121783000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:121756600-121783200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:121756800-121775400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:121756800-121776200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:121756800-121776200	Weak transcription	HUVEC	blood vessel
37	chr7:121756800-121776600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:121756800-121776800	Weak transcription	Brain Substantia Nigra	brain
39	chr7:121756800-121776800	Weak transcription	Right Ventricle	heart
40	chr7:121756800-121783000	Weak transcription	Fetal Intestine Large	intestine
41	chr7:121757000-121771800	Weak transcription	NHDF-Ad	bronchial
42	chr7:121757200-121773600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr7:121757200-121776000	Weak transcription	Brain Germinal Matrix	brain
44	chr7:121757200-121776000	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:121757200-121776200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:121757200-121776400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:121757200-121776800	Weak transcription	Pancreas	Pancrea
48	chr7:121757800-121776200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:121758400-121771800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:121758400-121776200	Weak transcription	Fetal Kidney	kidney

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