Variant report

Variant	rs2649662
Chromosome Location	chr11:57352562-57352563
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57351417..57353651-chr11:57356076..57358171,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 27 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1001956	0.85[CEU][hapmap]
rs1846567	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1846568	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2258835	0.85[CEU][hapmap]
rs2454663	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511983	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511986	0.81[CEU][hapmap]
rs2581922	0.90[CEU][hapmap]
rs2581923	0.90[CEU][hapmap]
rs2584856	0.90[CEU][hapmap]
rs2584862	0.86[CEU][hapmap]
rs2649650	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2649652	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2649663	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649667	0.95[CEU][hapmap]
rs2729353	0.90[CEU][hapmap]
rs2729354	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729355	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2729371	0.85[CEU][hapmap];0.80[GIH][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs2729374	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2729384	0.90[CEU][hapmap]
rs2848625	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2848626	0.82[EUR][1000 genomes]
rs2848630	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2848634	0.90[CEU][hapmap]
rs2848640	0.90[CEU][hapmap]
rs3851117	0.81[CEU][hapmap]
rs489858	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
4	nsv1051032	chr11:57290124-57363064	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv541049	chr11:57290124-57363064	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1052073	chr11:57297499-57362802	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv541050	chr11:57297499-57362802	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:27)

SNP	Gene	Cis/trans	Tissue	Source
rs2649662	OR5M1	cis	parietal	SCAN
rs2649662	TIMM10	trans	brain	seeQTL
rs2649662	TIMM10	cis	Brain Pons	GTEx
rs2649662	TIMM10	cis	multi-tissue	Pritchard
rs2649662	CTNND1	cis	cerebellum	SCAN
rs2649662	SLC43A1	cis	cerebellum	SCAN
rs2649662	TIMM10	cis	Thyroid	GTEx
rs2649662	YPEL4	cis	multi-tissue	Pritchard
rs2649662	TIMM10	cis	Artery Tibial	GTEx
rs2649662	TIMM10	cis	Muscle Skeletal	GTEx
rs2649662	TIMM10	cis	Esophagus Mucosa	GTEx
rs2649662	TIMM10	cis	Cerebellum	GTEx
rs2649662	TIMM10	cis	lesional skin	skin_eQTL
rs2649662	OR10Q1	cis	parietal	SCAN
rs2649662	TIMM10	cis	Temporal Cortex	GTEx
rs2649662	TIMM10	cis	lung	GTEx
rs2649662	TIMM10	cis	brain	seeQTL
rs2649662	TIMM10	cis	Frontal Cortex	GTEx
rs2649662	TIMM10	cis	parietal	SCAN
rs2649662	TIMM10	cis	Lymphoblastoid	GTEx
rs2649662	SLC43A1	cis	parietal	SCAN
rs2649662	YPEL4	cis	cerebellum	SCAN
rs2649662	TIMM10	cis	lymphoblastoid	seeQTL
rs2649662	TIMM10	cis	Artery Aorta	GTEx
rs2649662	TIMM10	cis	Heart Left Ventricle	GTEx
rs2649662	TIMM10	cis	Esophagus Muscularis	GTEx
rs2649662	TIMM10	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57351000-57353600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:57351000-57356200	Enhancers	Primary hematopoietic stem cells	blood
3	chr11:57351200-57352600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:57351200-57353000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr11:57351800-57353200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:57351800-57354600	Enhancers	Fetal Thymus	thymus
7	chr11:57351800-57356000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr11:57352000-57352600	Enhancers	Fetal Stomach	stomach
9	chr11:57352000-57352800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:57352000-57352800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:57352000-57352800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:57352000-57353200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:57352000-57353400	Enhancers	HSMMtube	muscle
14	chr11:57352000-57356200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:57352200-57353000	Enhancers	Fetal Muscle Leg	muscle
16	chr11:57352200-57353000	Enhancers	HepG2	liver
17	chr11:57352200-57354800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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