Variant report

Variant	rs12795774
Chromosome Location	chr11:66381517-66381518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66381415-66381774	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr11:66381299-66381919	PANC-1	pancreas:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66356377..66365681-chr11:66380910..66388291,23	K562	blood:
2	chr11:66379202..66381551-chr11:66382347..66385006,2	K562	blood:
3	chr11:66358156..66362242-chr11:66381316..66386003,12	K562	blood:
4	chr11:66366106..66376502-chr11:66378243..66386807,17	K562	blood:
5	chr11:66312923..66315636-chr11:66381243..66385459,4	MCF-7	breast:

No data

Variant related genes	Relation type
RBM14-RBM4	TF binding region
RBM14	TF binding region
RBM4	TF binding region
ENSG00000173992	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000182791	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000199325	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000239306	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2242663	0.83[CHD][hapmap];0.92[JPT][hapmap]
rs2282640	0.85[JPT][hapmap]
rs2511224	0.85[JPT][hapmap]
rs2511225	0.85[JPT][hapmap]
rs3741364	0.80[CEU][hapmap]
rs4277117	0.85[AMR][1000 genomes]
rs481296	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs484262	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs532439	0.90[CEU][hapmap];0.86[GIH][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap]
rs551708	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap]
rs610293	0.85[JPT][hapmap]
rs624561	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7951189	0.85[JPT][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	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
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs12795774	ACTN3	cis	Muscle Skeletal	GTEx
rs12795774	ASRGL1	cis	parietal	SCAN
rs12795774	CCS	cis	lymphoblastoid	seeQTL
rs12795774	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs12795774	FERMT3	cis	cerebellum	SCAN
rs12795774	ACTN3	cis	lymphoblastoid	seeQTL
rs12795774	CCS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66361400-66382800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:66361400-66383400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:66363200-66383200	Weak transcription	Fetal Kidney	kidney
4	chr11:66363400-66382800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:66363400-66383200	Weak transcription	Fetal Brain Male	brain
6	chr11:66367400-66383400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:66373000-66382600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:66373400-66383400	Weak transcription	Aorta	Aorta
9	chr11:66373600-66382800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:66373600-66382800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:66373600-66383000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:66373800-66382200	Weak transcription	Dnd41	blood
13	chr11:66373800-66382800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:66373800-66383200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:66373800-66383400	Weak transcription	Lung	lung
16	chr11:66374000-66383200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:66374000-66383200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:66374200-66382600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:66374200-66383000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:66374200-66383200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:66374200-66383400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:66374800-66382800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:66374800-66383200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:66374800-66383200	Weak transcription	Fetal Brain Female	brain
25	chr11:66375000-66382800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:66375000-66382800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:66375000-66382800	Weak transcription	Brain Angular Gyrus	brain
28	chr11:66375000-66383000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:66375000-66383000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:66375000-66383200	Weak transcription	Brain Germinal Matrix	brain
31	chr11:66375000-66383400	Weak transcription	HSMMtube	muscle
32	chr11:66375200-66382400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:66375200-66382600	Weak transcription	Placenta	Placenta
34	chr11:66375200-66382800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:66375200-66382800	Weak transcription	NHDF-Ad	bronchial
36	chr11:66375200-66382800	Weak transcription	NHLF	lung
37	chr11:66375200-66383000	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:66375200-66383200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:66375200-66383200	Weak transcription	Fetal Intestine Small	intestine
40	chr11:66375200-66383200	Weak transcription	Osteobl	bone
41	chr11:66375200-66383400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:66375200-66383400	Weak transcription	Ovary	ovary
43	chr11:66375400-66383000	Weak transcription	Pancreas	Pancrea
44	chr11:66375600-66382800	Weak transcription	Fetal Lung	lung
45	chr11:66375600-66383000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:66375600-66383000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:66375600-66383200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:66375600-66383200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:66375600-66383200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:66375600-66383200	Weak transcription	NH-A	brain

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