Variant report

Variant	rs2514205
Chromosome Location	chr11:57827822-57827823
allele	A/G
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	CTCF	chr11:57827740-57827890	HMEC	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000255146	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11229216	1.00[CEU][hapmap]
rs11229232	0.81[EUR][1000 genomes]
rs11229238	1.00[CEU][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11229240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229246	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs11229251	0.82[CEU][hapmap]
rs11229255	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs12793317	0.82[CEU][hapmap];0.82[JPT][hapmap]
rs1447173	1.00[JPT][hapmap]
rs17459653	0.82[CEU][hapmap];0.82[JPT][hapmap]
rs17537868	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2441956	0.82[CEU][hapmap];0.95[YRI][hapmap]
rs2441957	0.85[YRI][hapmap]
rs2441971	0.87[AFR][1000 genomes]
rs2513708	0.80[YRI][hapmap]
rs28650443	0.89[EUR][1000 genomes]
rs34216610	0.88[EUR][1000 genomes]
rs4939178	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4939179	0.86[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4939185	0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs61738000	0.89[ASN][1000 genomes]
rs7128492	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832165	chr11:57806024-58009076	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2514205	TIMM10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57823600-57828400	Enhancers	HepG2	liver
2	chr11:57824600-57830000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:57824600-57830600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:57824800-57830000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:57824800-57830200	Enhancers	NHLF	lung
6	chr11:57825000-57830200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:57825000-57830600	Enhancers	HMEC	breast
8	chr11:57825200-57830600	Enhancers	NHEK	skin
9	chr11:57825400-57828800	Enhancers	Fetal Heart	heart
10	chr11:57825400-57830000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr11:57825800-57828600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:57825800-57829600	Enhancers	Fetal Intestine Large	intestine
13	chr11:57825800-57830000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr11:57826000-57828600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:57826200-57829400	Enhancers	HSMM	muscle
16	chr11:57826400-57828400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:57826400-57829400	Weak transcription	NHDF-Ad	bronchial
18	chr11:57826400-57838000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:57826400-57845200	Weak transcription	Pancreas	Pancrea
20	chr11:57826600-57828400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:57826600-57828600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:57826600-57829000	Weak transcription	Osteobl	bone
23	chr11:57826600-57829200	Enhancers	HSMMtube	muscle
24	chr11:57826600-57830200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:57826800-57828400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:57826800-57829200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:57827200-57828000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:57827200-57829200	Enhancers	Placenta	Placenta
29	chr11:57827200-57829400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:57827200-57830000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr11:57827200-57830200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:57827200-57830200	Enhancers	NH-A	brain
33	chr11:57827200-57830400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:57827200-57830600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr11:57827400-57828600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:57827400-57829400	Enhancers	Fetal Intestine Small	intestine
37	chr11:57827400-57830000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr11:57827600-57829000	Weak transcription	A549	lung
39	chr11:57827600-57829800	Weak transcription	Right Atrium	heart
40	chr11:57827600-57830000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr11:57827600-57830000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr11:57827600-57830200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr11:57827800-57828800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:57827800-57828800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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