Variant report

Variant	rs2741862
Chromosome Location	chr11:3687985-3687986
allele	C/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	chr11:3687737-3688255	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3679748..3681336-chr11:3687439..3689154,2	K562	blood:

Variant related genes	Relation type
ENSG00000200201	TF binding region
ENSG00000201279	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10834761	0.87[CHD][hapmap]
rs10834858	0.87[ASN][1000 genomes]
rs11029019	0.92[ASN][1000 genomes]
rs1581162	0.83[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs202438	0.82[ASN][1000 genomes]
rs2271583	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs2741858	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2741859	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2741868	0.87[CHD][hapmap]
rs2741869	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs276899	0.82[ASN][1000 genomes]
rs2943418	0.92[ASN][1000 genomes]
rs2943419	0.87[ASN][1000 genomes]
rs2957865	0.84[CHD][hapmap]
rs4309184	0.83[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs4575303	0.84[CHD][hapmap]
rs685782	0.81[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs7110600	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047763	chr11:2918998-3751029	Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	esv2758252	chr11:3236512-3801429	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2759796	chr11:3236512-3801429	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv832051	chr11:3523947-3728714	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1820972	chr11:3616884-3801429	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv1821329	chr11:3616884-3801429	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv832052	chr11:3616884-3801429	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv428247	chr11:3616884-3801429	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv526441	chr11:3626177-3756686	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv1046356	chr11:3628837-3774215	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv1044345	chr11:3628912-3739222	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
12	nsv540906	chr11:3628912-3739222	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv1044419	chr11:3628912-3751029	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
15	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
16	nsv1043716	chr11:3685149-3751029	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
17	nsv540908	chr11:3685149-3751029	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
18	nsv482156	chr11:3686817-3692614	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2741862	UBQLNL	cis	parietal	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3680200-3689400	Strong transcription	Skeletal Muscle Female	skeletal muscle
2	chr11:3681400-3691200	Strong transcription	Skeletal Muscle Male	skeletal muscle
3	chr11:3681800-3693200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:3682400-3697200	Weak transcription	Fetal Brain Male	brain
5	chr11:3682800-3688400	Weak transcription	Small Intestine	intestine
6	chr11:3683000-3696600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:3683200-3694000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:3683400-3690200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:3683600-3691400	Weak transcription	NH-A	brain
10	chr11:3683600-3693400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:3683600-3693400	Weak transcription	NHDF-Ad	bronchial
12	chr11:3684400-3705400	Strong transcription	Fetal Muscle Leg	muscle
13	chr11:3684800-3688800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:3685000-3688800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:3685000-3690400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:3685000-3693200	Weak transcription	Hela-S3	cervix
17	chr11:3685000-3728000	Strong transcription	Stomach Smooth Muscle	stomach
18	chr11:3685000-3743800	Strong transcription	Duodenum Mucosa	Duodenum
19	chr11:3685200-3689600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:3685200-3689600	Strong transcription	Fetal Stomach	stomach
21	chr11:3685200-3690200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:3685200-3690400	Strong transcription	Lung	lung
23	chr11:3685200-3691800	Strong transcription	Ovary	ovary
24	chr11:3685200-3693200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:3685200-3695400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:3685200-3702600	Strong transcription	Fetal Intestine Small	intestine
27	chr11:3685200-3705600	Strong transcription	Brain Germinal Matrix	brain
28	chr11:3685200-3728200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:3685200-3728200	Strong transcription	Thymus	Thymus
30	chr11:3685200-3730000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:3685200-3766800	Strong transcription	Placenta	Placenta
32	chr11:3685400-3688200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:3685400-3688400	Strong transcription	NHEK	skin
34	chr11:3685400-3688400	Strong transcription	Osteobl	bone
35	chr11:3685400-3689800	Weak transcription	Brain Substantia Nigra	brain
36	chr11:3685400-3689800	Weak transcription	GM12878-XiMat	blood
37	chr11:3685400-3690400	Strong transcription	Right Ventricle	heart
38	chr11:3685400-3690400	Strong transcription	NHLF	lung
39	chr11:3685400-3694600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:3685400-3694600	Strong transcription	Gastric	stomach
41	chr11:3685400-3695200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:3685400-3704800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:3685400-3704800	Strong transcription	Brain Hippocampus Middle	brain
44	chr11:3685400-3705200	Strong transcription	Spleen	Spleen
45	chr11:3685400-3705400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:3685400-3711000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:3685400-3728200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr11:3685400-3728400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:3685400-3731200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr11:3685400-3733400	Strong transcription	Fetal Intestine Large	intestine

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