Variant report

Variant	rs662146
Chromosome Location	chr11:119927792-119927793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1010260	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10431043	0.81[ASN][1000 genomes]
rs10502234	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10892518	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10892522	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10892524	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10892525	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10892527	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11217648	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11217650	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11217651	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11217653	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11217654	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11217664	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11217665	0.80[ASN][1000 genomes]
rs11217666	0.80[ASN][1000 genomes]
rs11493812	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11512472	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11605106	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11605307	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11607618	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11607997	0.84[EUR][1000 genomes]
rs11608135	0.86[ASN][1000 genomes]
rs12225953	0.80[ASN][1000 genomes]
rs12362929	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12363889	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12365908	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12790374	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12792065	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12799875	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12800482	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12800844	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1319166	0.83[EUR][1000 genomes]
rs1452840	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1452841	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1452842	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1939331	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1939333	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1939334	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1942011	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1960536	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1989151	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58844530	0.81[ASN][1000 genomes]
rs61897925	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs675331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681454	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965312	0.80[EUR][1000 genomes]
rs972534	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv508657	chr11:119891578-119971212	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119922600-119936000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:119924800-119927800	Enhancers	HSMMtube	muscle
3	chr11:119925000-119934200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:119925600-119929000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:119925600-119929200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:119925600-119929200	Weak transcription	Right Atrium	heart
7	chr11:119925600-119929200	Enhancers	HMEC	breast
8	chr11:119925600-119929400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:119926000-119928000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr11:119926000-119928200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:119926000-119928400	Enhancers	Fetal Thymus	thymus
12	chr11:119926000-119929000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr11:119926000-119929600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:119926000-119929800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:119926000-119930200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:119926000-119930600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr11:119926200-119927800	Enhancers	Brain Hippocampus Middle	brain
18	chr11:119926200-119928200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr11:119926200-119928600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:119926200-119928600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr11:119926200-119929000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr11:119926200-119929400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:119926200-119929400	Enhancers	Esophagus	oesophagus
24	chr11:119926800-119927800	Enhancers	Brain Anterior Caudate	brain
25	chr11:119926800-119928000	Enhancers	Placenta	Placenta
26	chr11:119926800-119929600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:119927000-119928000	Enhancers	Brain Cingulate Gyrus	brain
28	chr11:119927000-119928200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:119927000-119928200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:119927000-119929200	Enhancers	Fetal Intestine Large	intestine
31	chr11:119927000-119929400	Enhancers	NHEK	skin
32	chr11:119927200-119927800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:119927200-119927800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr11:119927200-119928200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:119927200-119928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:119927200-119928600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr11:119927400-119928400	Weak transcription	Brain Germinal Matrix	brain
38	chr11:119927400-119929600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:119927400-119929800	Enhancers	Fetal Intestine Small	intestine

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