Variant report

Variant	rs577335
Chromosome Location	chr11:66383069-66383070
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr11:66382850-66383120	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:66382608-66385351	PANC-1	pancreas:	n/a	n/a
3	FOXA1	chr11:66382767-66383098	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:66383054-66383104	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:66382781-66387062	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr11:66382497-66383195	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:66382524..66385340-chr11:66511920..66516933,5	MCF-7	breast:
2	chr11:66244175..66248389-chr11:66381997..66386853,5	MCF-7	breast:
3	chr11:66356377..66365681-chr11:66380910..66388291,23	K562	blood:
4	chr11:66366218..66370656-chr11:66381863..66384866,5	MCF-7	breast:
5	chr11:66333502..66336819-chr11:66382812..66384536,3	K562	blood:
6	chr11:66382730..66385205-chr11:66623849..66626752,2	MCF-7	breast:
7	chr11:66312879..66315564-chr11:66382748..66385471,3	MCF-7	breast:
8	chr11:66333513..66337489-chr11:66382854..66385992,4	MCF-7	breast:
9	chr11:66382556..66384556-chr11:66444567..66446520,2	K562	blood:
10	chr11:66188990..66190696-chr11:66382634..66385448,2	MCF-7	breast:
11	chr11:66333502..66335839-chr11:66382927..66384488,2	K562	blood:
12	chr11:66358904..66365230-chr11:66381918..66386995,13	MCF-7	breast:
13	chr11:66312120..66315858-chr11:66382093..66385516,4	K562	blood:
14	chr11:66290822..66293457-chr11:66382909..66385562,2	K562	blood:
15	chr11:66358156..66362242-chr11:66381316..66386003,12	K562	blood:
16	chr11:66382408..66387659-chr11:66442901..66446973,11	MCF-7	breast:
17	chr11:66382897..66385636-chr11:66609327..66612725,4	MCF-7	breast:
18	chr11:66383016..66385883-chr16:2013873..2015772,2	K562	blood:
19	chr11:66382834..66385976-chr11:66609299..66612112,4	MCF-7	breast:
20	chr11:66383015..66384973-chr11:66443388..66446151,2	MCF-7	breast:
21	chr11:66281676..66283315-chr11:66382899..66385422,2	K562	blood:
22	chr11:66246401..66248932-chr11:66382883..66386321,3	MCF-7	breast:
23	chr11:66366106..66376502-chr11:66378243..66386807,17	K562	blood:
24	chr11:66257660..66259659-chr11:66383000..66385140,2	MCF-7	breast:
25	chr11:66312923..66315636-chr11:66381243..66385459,4	MCF-7	breast:
26	chr11:66382703..66385380-chr11:66622167..66625173,4	MCF-7	breast:
27	chr11:66358389..66364594-chr11:66381544..66387255,17	MCF-7	breast:
28	chr11:66138177..66141064-chr11:66382767..66386168,3	MCF-7	breast:
29	chr11:66382625..66386755-chr11:66442635..66447327,8	K562	blood:
30	chr11:66313372..66315858-chr11:66382227..66384523,2	K562	blood:
31	chr11:66111992..66114342-chr11:66382242..66384308,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC87-1	chr11:66381671-66383832	NONHSAT022331

No data

Variant related genes	Relation type
RBM14	TF binding region
RBM14-RBM4	TF binding region
RNU4-39P	TF binding region
RBM4	TF binding region
ENSG00000174669	Chromatin interaction
ENSG00000174576	Chromatin interaction
ENSG00000140988	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000255513	Chromatin interaction
ENSG00000174080	Chromatin interaction
ENSG00000173992	Chromatin interaction
ENSG00000174483	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000182791	Chromatin interaction
ENSG00000255517	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000173715	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000255198	Chromatin interaction
ENSG00000173914	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12417769	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12577111	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12804382	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1791684	0.96[CEU][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2276138	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs34900764	0.88[EUR][1000 genomes]
rs3741363	1.00[CEU][hapmap];0.85[ASN][1000 genomes]
rs474602	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs477557	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs486584	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4930387	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs498045	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs503250	0.96[CEU][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs535211	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs556759	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs566673	0.85[CEU][hapmap]
rs577023	0.96[CEU][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs580910	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs692892	1.00[CEU][hapmap];0.86[EUR][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	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs577335	ACTN3	cis	Muscle Skeletal	GTEx
rs577335	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs577335	CCS	Cis_1M	lymphoblastoid	RTeQTL
rs577335	CCS	cis	multi-tissue	Pritchard

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66361400-66383400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:66363200-66383200	Weak transcription	Fetal Kidney	kidney
3	chr11:66363400-66383200	Weak transcription	Fetal Brain Male	brain
4	chr11:66367400-66383400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:66373400-66383400	Weak transcription	Aorta	Aorta
6	chr11:66373800-66383200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:66373800-66383400	Weak transcription	Lung	lung
8	chr11:66374000-66383200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:66374000-66383200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:66374200-66383200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:66374200-66383400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:66374800-66383200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:66374800-66383200	Weak transcription	Fetal Brain Female	brain
14	chr11:66375000-66383200	Weak transcription	Brain Germinal Matrix	brain
15	chr11:66375000-66383400	Weak transcription	HSMMtube	muscle
16	chr11:66375200-66383200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:66375200-66383200	Weak transcription	Fetal Intestine Small	intestine
18	chr11:66375200-66383200	Weak transcription	Osteobl	bone
19	chr11:66375200-66383400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:66375200-66383400	Weak transcription	Ovary	ovary
21	chr11:66375600-66383200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:66375600-66383200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:66375600-66383200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:66375600-66383200	Weak transcription	NH-A	brain
25	chr11:66375600-66383400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:66375600-66383400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:66376000-66383200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:66376000-66383200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:66376000-66383200	Weak transcription	Stomach Mucosa	stomach
30	chr11:66376000-66383400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:66376200-66383200	Weak transcription	Colonic Mucosa	Colon
32	chr11:66377600-66383200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:66377600-66383400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:66378000-66383200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:66378000-66383200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:66378000-66383200	Weak transcription	Spleen	Spleen
37	chr11:66378000-66383400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:66378000-66383400	Weak transcription	Thymus	Thymus
39	chr11:66378400-66383200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:66378800-66383200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:66380800-66383200	Enhancers	Fetal Heart	heart
42	chr11:66381600-66383400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:66381800-66383200	Weak transcription	Left Ventricle	heart
44	chr11:66381800-66383600	Weak transcription	Gastric	stomach
45	chr11:66382000-66383200	Enhancers	Duodenum Mucosa	Duodenum
46	chr11:66382600-66383200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr11:66382600-66383200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr11:66382600-66383400	Enhancers	Primary B cells from peripheral blood	blood
49	chr11:66382600-66383400	Enhancers	Placenta	Placenta
50	chr11:66382600-66383600	Flanking Active TSS	Hela-S3	cervix

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