Variant report

Variant	rs2276106
Chromosome Location	chr11:66105817-66105818
allele	A/C/G/T
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	chr11:66105284-66105821	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr11:66105614-66105978	K562	blood:	n/a	n/a
3	CHD1	chr11:66102182-66106109	IMR90	lung:	n/a	n/a
4	MAZ	chr11:66102235-66106377	IMR90	lung:	n/a	chr11:66104147-66104162 chr11:66104331-66104340 chr11:66104151-66104160 chr11:66104359-66104368 chr11:66106166-66106175 chr11:66106165-66106176 chr11:66104355-66104364 chr11:66104294-66104303 chr11:66104295-66104304
5	POLR2A	chr11:66105673-66106259	K562	blood:	n/a	n/a
6	POLR2A	chr11:66105715-66105858	HepG2	liver:	n/a	n/a
7	RCOR1	chr11:66102436-66106057	IMR90	lung:	n/a	n/a
8	POLR2A	chr11:66105354-66105988	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66052249..66054204-chr11:66103456..66106375,2	K562	blood:
2	chr11:66077376..66081785-chr11:66101114..66107038,7	MCF-7	breast:
3	chr11:66102581..66106910-chr11:66137391..66141246,5	MCF-7	breast:
4	chr11:66105229..66107921-chr11:66137845..66140826,3	MCF-7	breast:
5	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:

Variant related genes	Relation type
RIN1	TF binding region
ENSG00000254458	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000174669	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1052566	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10750786	0.81[EUR][1000 genomes]
rs1785631	0.90[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1892938	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs35936931	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4930355	0.95[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs66733929	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68162171	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72938583	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv1813137	chr11:66098322-66106725	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
9	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	esv1850142	chr11:66099494-66105817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2276106	CCS	Cis_1M	lymphoblastoid	RTeQTL
rs2276106	ACTN3	cis	Muscle Skeletal	GTEx
rs2276106	CTD-3074O7.2	cis	Muscle Skeletal	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66098400-66108800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:66103400-66106200	Enhancers	Fetal Brain Male	brain
3	chr11:66103600-66106200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:66103600-66107600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:66103800-66106200	Weak transcription	Aorta	Aorta
6	chr11:66104000-66106000	Weak transcription	Small Intestine	intestine
7	chr11:66104200-66106000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:66104200-66106200	Enhancers	HSMMtube	muscle
9	chr11:66104200-66106600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:66104200-66107800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:66104200-66109000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:66104400-66106000	Genic enhancers	Fetal Muscle Leg	muscle
13	chr11:66104400-66106200	Weak transcription	Primary B cells from cord blood	blood
14	chr11:66104400-66106200	Weak transcription	K562	blood
15	chr11:66104400-66106600	Weak transcription	Brain Angular Gyrus	brain
16	chr11:66104400-66106800	Genic enhancers	NHLF	lung
17	chr11:66104400-66107000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:66104400-66107200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:66104400-66107800	Enhancers	HMEC	breast
20	chr11:66104400-66110400	Strong transcription	Dnd41	blood
21	chr11:66104600-66106000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:66104600-66106000	Weak transcription	Ovary	ovary
23	chr11:66104600-66106200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:66104600-66106200	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:66104600-66106200	Weak transcription	Fetal Lung	lung
26	chr11:66104600-66106400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:66104600-66106800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:66104600-66107200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:66104600-66108200	Weak transcription	Stomach Mucosa	stomach
30	chr11:66104600-66109000	Weak transcription	Fetal Kidney	kidney
31	chr11:66104600-66109800	Strong transcription	Colonic Mucosa	Colon
32	chr11:66104600-66109800	Strong transcription	Lung	lung
33	chr11:66104600-66110000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:66104600-66110400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:66104600-66110400	Strong transcription	Fetal Intestine Large	intestine
36	chr11:66104600-66110400	Strong transcription	Right Ventricle	heart
37	chr11:66104600-66110800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:66104600-66111600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:66104800-66106000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:66104800-66106000	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr11:66104800-66106200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:66104800-66106200	Enhancers	HSMM	muscle
43	chr11:66104800-66106400	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr11:66104800-66106800	Genic enhancers	GM12878-XiMat	blood
45	chr11:66104800-66107000	Genic enhancers	NHDF-Ad	bronchial
46	chr11:66104800-66107800	Weak transcription	HepG2	liver
47	chr11:66104800-66108800	Strong transcription	Gastric	stomach
48	chr11:66104800-66109600	Strong transcription	Brain Substantia Nigra	brain
49	chr11:66104800-66109600	Strong transcription	Rectal Smooth Muscle	rectum
50	chr11:66104800-66109800	Strong transcription	Left Ventricle	heart

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