Variant report

Variant	rs12785321
Chromosome Location	chr11:66179736-66179737
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66178617..66182846-chr11:66233646..66237657,3	MCF-7	breast:
2	chr11:66175058..66178321-chr11:66178866..66181551,3	K562	blood:

Variant related genes	Relation type
ENSG00000174547	Chromatin interaction
ENSG00000254510	Chromatin interaction
ENSG00000174516	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1039594	0.89[EUR][1000 genomes]
rs1047029	0.88[EUR][1000 genomes]
rs10750784	0.85[EUR][1000 genomes]
rs10791869	0.87[EUR][1000 genomes]
rs10791872	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10791874	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10791876	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896111	0.85[EUR][1000 genomes]
rs10896112	0.86[EUR][1000 genomes]
rs10896115	0.86[EUR][1000 genomes]
rs10896116	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11227465	0.86[EUR][1000 genomes]
rs11601396	0.86[EUR][1000 genomes]
rs12416747	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12576299	0.90[EUR][1000 genomes]
rs12577196	0.88[EUR][1000 genomes]
rs12785651	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12786563	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12794121	0.88[EUR][1000 genomes]
rs1546358	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1785633	0.83[EUR][1000 genomes]
rs1892940	0.87[EUR][1000 genomes]
rs2236679	0.82[EUR][1000 genomes]
rs2279861	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2279862	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2282530	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3016767	0.88[EUR][1000 genomes]
rs3177514	0.88[EUR][1000 genomes]
rs34043951	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4244813	0.88[EUR][1000 genomes]
rs4466842	0.82[EUR][1000 genomes]
rs4930177	0.88[EUR][1000 genomes]
rs4930178	0.87[EUR][1000 genomes]
rs4930179	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4930181	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4930360	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4930362	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4930363	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4930366	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4930368	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55998145	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56123976	0.87[EUR][1000 genomes]
rs56321771	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61891449	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6591213	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6591215	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6591217	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66810040	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7104253	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7104570	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7105015	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7105401	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7107191	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7110944	0.85[EUR][1000 genomes]
rs7117630	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7126018	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73489638	0.86[EUR][1000 genomes]
rs7938676	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7939111	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7940980	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs905770	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs947978	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12785321	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs12785321	ACTN3	cis	Muscle Skeletal	GTEx
rs12785321	RIN1	cis	Whole Blood	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66176600-66179800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr11:66177000-66180200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr11:66177000-66180600	Weak transcription	Fetal Brain Male	brain
4	chr11:66177000-66181000	Weak transcription	Spleen	Spleen
5	chr11:66177000-66181800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:66177000-66183600	Weak transcription	Right Atrium	heart
7	chr11:66177200-66180000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:66177200-66180000	Active TSS	Colon Smooth Muscle	Colon
9	chr11:66177200-66180600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:66177400-66180800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:66177400-66181000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:66177400-66185000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:66177600-66180400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:66177600-66181400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:66177600-66184600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:66178000-66183000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:66178200-66180200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:66178200-66180400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr11:66178600-66179800	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr11:66178600-66180200	Bivalent/Poised TSS	Fetal Stomach	stomach
21	chr11:66179000-66179800	Bivalent Enhancer	Fetal Brain Female	brain
22	chr11:66179000-66180000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr11:66179200-66185200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:66179400-66179800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:66179400-66179800	Active TSS	Rectal Smooth Muscle	rectum
26	chr11:66179400-66180200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:66179400-66180800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:66179400-66180800	Enhancers	Fetal Heart	heart
29	chr11:66179400-66181200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:66179400-66185000	Weak transcription	Aorta	Aorta
31	chr11:66179400-66185200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:66179600-66180400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:66179600-66181200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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