Variant report

Variant	rs3737296
Chromosome Location	chr1:220825523-220825524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1073460	0.94[CEU][hapmap];0.91[JPT][hapmap]
rs10779414	0.80[CEU][hapmap]
rs10863561	0.81[AMR][1000 genomes]
rs12048541	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs17007885	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs1933002	0.94[CEU][hapmap];0.90[JPT][hapmap];0.82[AFR][1000 genomes]
rs1933008	0.91[JPT][hapmap]
rs2253641	0.94[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2378401	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2378402	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2589588	0.94[CEU][hapmap];0.91[JPT][hapmap]
rs2786601	0.94[CEU][hapmap];0.91[JPT][hapmap]
rs2786604	0.94[CEU][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2786607	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2786613	0.94[CEU][hapmap];0.91[JPT][hapmap];0.82[AFR][1000 genomes]
rs2786619	0.94[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2993209	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2994527	0.85[AMR][1000 genomes]
rs4011894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4846657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61830219	0.80[ASN][1000 genomes]
rs6541155	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6677302	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6699189	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6699196	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7514431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9431262	0.82[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388508	chr1:220814606-220826814	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220767800-220826400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:220778800-220837200	Weak transcription	NHEK	skin
3	chr1:220782800-220825800	Weak transcription	Fetal Brain Male	brain
4	chr1:220784200-220836600	Weak transcription	Fetal Lung	lung
5	chr1:220791200-220828600	Weak transcription	Right Ventricle	heart
6	chr1:220791200-220841200	Weak transcription	HMEC	breast
7	chr1:220792000-220834200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:220796200-220827800	Weak transcription	Gastric	stomach
9	chr1:220798000-220836400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:220798800-220826200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:220799600-220827000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:220800000-220837800	Weak transcription	Esophagus	oesophagus
13	chr1:220800800-220826400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:220802400-220826400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:220805200-220827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:220807400-220829800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:220807800-220828800	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:220807800-220836400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:220809400-220827000	Weak transcription	Brain Anterior Caudate	brain
20	chr1:220810800-220826200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:220813600-220836000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:220815000-220827800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:220815800-220826600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:220815800-220837200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:220816000-220827000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:220816000-220828000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:220816200-220826400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:220816200-220827000	Weak transcription	Aorta	Aorta
29	chr1:220816200-220836200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:220816400-220827000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:220816600-220834200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:220816600-220836000	Weak transcription	Fetal Kidney	kidney
33	chr1:220816800-220825800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:220816800-220826400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:220816800-220826400	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:220817200-220826200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:220819400-220826000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:220819800-220828800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:220820200-220827200	Weak transcription	Brain Germinal Matrix	brain
40	chr1:220820400-220836600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:220821600-220834600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:220822000-220836800	Weak transcription	Pancreas	Pancrea
43	chr1:220823200-220828800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:220823200-220829800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:220823200-220835800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:220823400-220829600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:220823400-220830400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:220823400-220830600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:220823400-220835600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:220823800-220826400	Weak transcription	Left Ventricle	heart

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