Variant report

Variant	rs7127006
Chromosome Location	chr11:16379226-16379227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16377809..16381179-chr11:16381397..16386476,5	K562	blood:
2	chr11:16378328..16381212-chr11:16385744..16387907,4	K562	blood:
3	chr11:16378664..16381135-chr11:16398247..16400656,3	K562	blood:
4	chr11:16378118..16380186-chr11:16404618..16407348,2	K562	blood:
5	chr11:16373265..16376492-chr11:16376738..16380719,5	K562	blood:
6	chr11:16368761..16370677-chr11:16378188..16383236,4	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11023926	1.00[ASN][1000 genomes]
rs12417996	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12418276	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12418887	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12420134	1.00[ASN][1000 genomes]
rs12420808	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12791361	1.00[CHB][hapmap]
rs12800654	1.00[CHB][hapmap];0.83[GIH][hapmap]
rs1437635	1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[ASN][1000 genomes]
rs16932966	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17461712	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17538814	1.00[CHB][hapmap]
rs17552977	1.00[CHB][hapmap]
rs17553733	1.00[ASN][1000 genomes]
rs1827535	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1975299	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2118362	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164783	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34281980	1.00[ASN][1000 genomes]
rs34866095	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35603256	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881739	1.00[ASN][1000 genomes]
rs61881740	1.00[ASN][1000 genomes]
rs61881741	1.00[ASN][1000 genomes]
rs61881743	1.00[ASN][1000 genomes]
rs61881745	1.00[ASN][1000 genomes]
rs61883178	1.00[ASN][1000 genomes]
rs61883179	1.00[ASN][1000 genomes]
rs61883180	1.00[ASN][1000 genomes]
rs61883181	1.00[ASN][1000 genomes]
rs61883182	1.00[ASN][1000 genomes]
rs61883184	1.00[ASN][1000 genomes]
rs61883185	1.00[ASN][1000 genomes]
rs61883187	1.00[ASN][1000 genomes]
rs61883197	1.00[ASN][1000 genomes]
rs7109139	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722747	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72869952	1.00[ASN][1000 genomes]
rs7929530	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7932056	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7933830	1.00[ASW][hapmap];0.95[CEU][hapmap];0.97[GIH][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936866	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs931774	1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[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	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7127006	SAA3P	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16377600-16379600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr11:16377600-16379600	Enhancers	Psoas Muscle	Psoas
3	chr11:16377600-16381600	Enhancers	Fetal Heart	heart
4	chr11:16377600-16382200	Enhancers	Fetal Intestine Small	intestine
5	chr11:16377800-16380400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:16378000-16379400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:16378000-16381000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:16378200-16379400	Enhancers	Brain Hippocampus Middle	brain
9	chr11:16378200-16379600	Enhancers	Brain Germinal Matrix	brain
10	chr11:16378200-16380000	Weak transcription	Right Ventricle	heart
11	chr11:16378400-16381600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr11:16378600-16380400	Enhancers	K562	blood
13	chr11:16378600-16381200	Enhancers	HepG2	liver
14	chr11:16378800-16379400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:16378800-16379600	Weak transcription	Fetal Brain Female	brain
16	chr11:16378800-16380000	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:16378800-16380400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:16378800-16381200	Enhancers	Fetal Intestine Large	intestine
19	chr11:16379000-16379400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:16379000-16379400	Bivalent Enhancer	HSMMtube	muscle
21	chr11:16379000-16379600	Enhancers	Brain Anterior Caudate	brain
22	chr11:16379000-16380000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:16379000-16380200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:16379000-16387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:16379200-16379400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:16379200-16379400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:16379200-16379800	Enhancers	Duodenum Mucosa	Duodenum
28	chr11:16379200-16381800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr11:16379200-16387400	Weak transcription	Fetal Muscle Leg	muscle

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