Variant report

Variant	rs274623
Chromosome Location	chr7:86274196-86274197
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12333697	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs200839	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107691	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2299212	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2463398	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2526952	0.87[ASN][1000 genomes]
rs274613	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs274614	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs274616	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs274617	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs274618	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs274619	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs274620	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs274621	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs274622	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs274624	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs274625	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs274628	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs274629	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs274630	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs274631	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs274633	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs274634	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs274636	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs274637	0.93[ASN][1000 genomes]
rs701334	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs701335	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs701336	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs701337	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs701338	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs724225	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs724226	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7794681	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs802420	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs802421	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs802423	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs802426	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs802427	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs802428	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs802430	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs802431	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs802433	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs802434	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs802435	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs802436	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs802437	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs802438	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs802440	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs802442	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs802443	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs802445	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs802446	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs802447	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs802449	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs802450	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs802456	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs802459	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs802465	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs802466	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs802475	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][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	nsv1025032	chr7:86032479-86642973	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831053	chr7:86268171-86440999	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86272600-86274600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:86272600-86275000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:86272600-86275200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:86272600-86275400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:86272600-86275600	Active TSS	Fetal Brain Male	brain
6	chr7:86272600-86277200	Active TSS	Brain Hippocampus Middle	brain
7	chr7:86272600-86277200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:86272600-86277400	Active TSS	Brain Angular Gyrus	brain
9	chr7:86272600-86277800	Active TSS	Brain Cingulate Gyrus	brain
10	chr7:86272600-86278000	Active TSS	Brain Anterior Caudate	brain
11	chr7:86272600-86278000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr7:86272800-86274200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:86272800-86274200	Active TSS	Right Atrium	heart
14	chr7:86272800-86274600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr7:86272800-86274600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
16	chr7:86272800-86274600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:86272800-86274600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
18	chr7:86272800-86274800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr7:86272800-86274800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr7:86272800-86274800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr7:86272800-86274800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr7:86272800-86275000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:86272800-86275800	Active TSS	Brain Substantia Nigra	brain
24	chr7:86273000-86274200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
25	chr7:86273000-86274200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:86273000-86274200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr7:86273000-86274200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
28	chr7:86273000-86274200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
29	chr7:86273000-86274200	Flanking Active TSS	Right Ventricle	heart
30	chr7:86273000-86274400	Enhancers	Esophagus	oesophagus
31	chr7:86273000-86274600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
32	chr7:86273000-86274600	Enhancers	Pancreas	Pancrea
33	chr7:86273000-86275000	Bivalent Enhancer	Liver	Liver
34	chr7:86273000-86275400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr7:86273200-86274200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:86273200-86274200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:86273200-86274200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:86273200-86274200	Bivalent/Poised TSS	Psoas Muscle	Psoas
39	chr7:86273200-86274400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
40	chr7:86273200-86274400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
41	chr7:86273200-86274400	Enhancers	Spleen	Spleen
42	chr7:86273200-86274800	Enhancers	Gastric	stomach
43	chr7:86273400-86274200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:86273400-86274800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr7:86273400-86274800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:86273400-86275400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
47	chr7:86273400-86275600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr7:86273600-86274200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:86273600-86274400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
50	chr7:86273600-86274400	Enhancers	Lung	lung

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