Variant report

Variant	rs2467327
Chromosome Location	chr11:57279228-57279229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57265680..57269520-chr11:57278275..57283954,6	K562	blood:

Variant related genes	Relation type
ENSG00000149150	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs1001956	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2250673	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2258835	0.83[ASN][1000 genomes]
rs2509899	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511984	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511986	0.85[ASN][1000 genomes]
rs2581922	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2581923	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2584856	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2649667	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2729353	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2729377	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2729384	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2729387	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2848626	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2848634	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2848635	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2848640	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2467327	TIMM10	cis	Esophagus Mucosa	GTEx
rs2467327	TIMM10	cis	Esophagus Muscularis	GTEx
rs2467327	TIMM10	cis	Artery Tibial	GTEx
rs2467327	TIMM10	Cis_1M	lymphoblastoid	RTeQTL
rs2467327	YPEL4	cis	lung	GTEx
rs2467327	TIMM10	cis	Thyroid	GTEx
rs2467327	TIMM10	cis	multi-tissue	Pritchard
rs2467327	TIMM10	cis	Muscle Skeletal	GTEx
rs2467327	TIMM10	cis	Heart Left Ventricle	GTEx
rs2467327	TIMM10	cis	Artery Aorta	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57251200-57280600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:57251400-57281200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:57257400-57281400	Weak transcription	Primary T cells from cord blood	blood
4	chr11:57259200-57280800	Weak transcription	GM12878-XiMat	blood
5	chr11:57261400-57281400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:57261800-57279600	Weak transcription	Dnd41	blood
7	chr11:57267200-57279400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr11:57267600-57280200	Weak transcription	Primary B cells from cord blood	blood
9	chr11:57267600-57281200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr11:57267600-57281600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:57267800-57280600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:57267800-57281400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:57267800-57281400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:57267800-57281400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:57267800-57281600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:57267800-57281600	Weak transcription	NH-A	brain
17	chr11:57267800-57281800	Weak transcription	Aorta	Aorta
18	chr11:57268000-57279600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:57268000-57281000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:57268000-57281800	Weak transcription	Small Intestine	intestine
21	chr11:57268200-57280000	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:57268200-57280400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:57268200-57280800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:57268200-57281600	Weak transcription	Brain Angular Gyrus	brain
25	chr11:57268400-57281800	Weak transcription	Fetal Lung	lung
26	chr11:57268600-57280400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:57268600-57280800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:57268600-57280800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:57268600-57281800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:57268800-57280200	Weak transcription	NHLF	lung
31	chr11:57268800-57281200	Weak transcription	Lung	lung
32	chr11:57268800-57281600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:57269000-57280200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:57269000-57281400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:57269000-57281400	Weak transcription	Left Ventricle	heart
36	chr11:57269800-57280600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:57269800-57281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:57269800-57281400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:57270000-57280600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:57270000-57281000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:57270000-57281400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr11:57270200-57280200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:57270200-57281200	Weak transcription	Gastric	stomach
44	chr11:57270200-57281400	Weak transcription	Right Ventricle	heart
45	chr11:57270200-57281400	Weak transcription	Spleen	Spleen
46	chr11:57270800-57280600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr11:57270800-57280800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:57271000-57281200	Weak transcription	Fetal Intestine Large	intestine
49	chr11:57272600-57280600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:57272600-57280800	Weak transcription	Duodenum Mucosa	Duodenum

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