Variant report

Variant	rs3801380
Chromosome Location	chr7:121514877-121514878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10953948	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11543745	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12669706	0.83[CEU][hapmap];0.94[JPT][hapmap]
rs12672519	0.93[ASN][1000 genomes]
rs12673871	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16870718	0.85[ASN][1000 genomes]
rs1916885	0.83[CEU][hapmap];0.94[JPT][hapmap]
rs2191783	0.94[JPT][hapmap]
rs35807933	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3757551	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801377	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.93[ASN][1000 genomes]
rs6965735	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6966138	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6971645	0.83[CEU][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs740965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7797043	0.99[ASN][1000 genomes]
rs9641678	0.83[CEU][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]

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	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1802911	chr7:121489994-121524500	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121512200-121515600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:121512400-121515000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:121512400-121515000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr7:121512400-121515200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
5	chr7:121512400-121515200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
6	chr7:121512400-121516000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr7:121512600-121515000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:121512600-121515200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr7:121512600-121515200	Active TSS	NHEK	skin
10	chr7:121512600-121515400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:121512600-121515600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:121512600-121515600	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr7:121512600-121516000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr7:121512600-121516000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:121512600-121516800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr7:121512800-121515000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:121512800-121515000	Active TSS	Right Atrium	heart
18	chr7:121512800-121515200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:121512800-121515600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr7:121512800-121515600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:121512800-121515800	Active TSS	Fetal Brain Male	brain
22	chr7:121512800-121516200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr7:121512800-121516800	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr7:121512800-121517000	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr7:121512800-121518600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:121513800-121515000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:121513800-121517600	Active TSS	Brain Germinal Matrix	brain
28	chr7:121514000-121515400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:121514000-121515600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:121514000-121517400	Active TSS	Brain Anterior Caudate	brain
31	chr7:121514000-121518400	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr7:121514000-121518800	Active TSS	Fetal Brain Female	brain
33	chr7:121514200-121515000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr7:121514400-121515000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:121514400-121515000	Active TSS	Fetal Lung	lung
36	chr7:121514400-121515400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:121514600-121516200	Active TSS	Brain Hippocampus Middle	brain
38	chr7:121514800-121515000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:121514800-121515000	Active TSS	HMEC	breast
40	chr7:121514800-121516800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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