Variant report

Variant	rs630021
Chromosome Location	chr11:66336989-66336990
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66336677-66337079	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66334662..66337726-chr11:66444588..66447609,3	K562	blood:
2	chr11:66311475..66316022-chr11:66335981..66338223,4	MCF-7	breast:
3	chr11:66333513..66337489-chr11:66382854..66385992,4	MCF-7	breast:

Variant related genes	Relation type
CTSF	TF binding region
ENSG00000248746	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000174165	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10736656	0.84[ASN][1000 genomes]
rs10791882	0.92[ASN][1000 genomes]
rs1127894	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1671062	0.84[ASN][1000 genomes]
rs1671063	0.81[ASN][1000 genomes]
rs1671064	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1671065	0.84[ASN][1000 genomes]
rs1700189	0.81[ASN][1000 genomes]
rs1791684	0.82[ASN][1000 genomes]
rs1791686	0.85[ASN][1000 genomes]
rs1815739	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2000939	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018318	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs486584	0.92[ASN][1000 genomes]
rs509556	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs531490	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs540874	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs545009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs560556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs572846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs615205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs618838	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs662094	0.83[AFR][1000 genomes]
rs677488	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs678397	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8432	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv897787	chr11:66300348-66347850	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv897788	chr11:66319262-66347850	Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv3376183	chr11:66334601-66337149	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs630021	ACTN3	cis	Muscle Skeletal	GTEx
rs630021	CCS	Cis_1M	lymphoblastoid	RTeQTL
rs630021	CTD-3074O7.2	cis	Muscle Skeletal	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66319000-66337800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:66330400-66337800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:66331400-66337800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:66331600-66337800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:66335600-66337000	Active TSS	Rectal Smooth Muscle	rectum
6	chr11:66336000-66337600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:66336000-66337800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:66336200-66337000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:66336200-66337200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:66336200-66337600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:66336200-66338400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:66336400-66337000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:66336400-66337000	Enhancers	Ovary	ovary
14	chr11:66336400-66337000	Enhancers	Right Ventricle	heart
15	chr11:66336400-66337000	Enhancers	K562	blood
16	chr11:66336400-66337400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:66336400-66337600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:66336400-66337800	Weak transcription	HSMMtube	muscle
19	chr11:66336400-66338000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:66336400-66338000	Weak transcription	Fetal Kidney	kidney
21	chr11:66336400-66346600	Weak transcription	Right Atrium	heart
22	chr11:66336600-66337000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:66336600-66337000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:66336600-66337000	Enhancers	Psoas Muscle	Psoas
25	chr11:66336600-66337200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr11:66336600-66337600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:66336600-66337600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr11:66336600-66337600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:66336800-66338800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr11:66336800-66338800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr11:66336800-66338800	Enhancers	HUES48 Cell Line	embryonic stem cell

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