Variant report

Variant	rs2848634
Chromosome Location	chr11:57252328-57252329
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57251306..57253890-chr11:57276529..57278804,2	K562	blood:
2	chr11:57252167..57253878-chr11:57259128..57262069,2	K562	blood:
3	chr11:57244323..57249361-chr11:57249933..57253488,6	K562	blood:

Variant related genes	Relation type
ENSG00000149150	Chromatin interaction
ENSG00000251995	Chromatin interaction
ENSG00000255301	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1001956	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10750864	0.82[AMR][1000 genomes]
rs2250673	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2258835	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2467327	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2509899	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2511984	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2511986	0.90[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2581921	0.84[ASN][1000 genomes]
rs2581922	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2581923	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2584856	1.00[CEU][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2584862	0.95[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2649667	0.95[CEU][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2729353	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2729363	0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2729377	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2729384	1.00[CEU][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2729387	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2729394	0.80[EUR][1000 genomes]
rs2848626	0.82[ASN][1000 genomes]
rs2848635	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2848640	1.00[CEU][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3851117	0.90[CEU][hapmap];0.87[TSI][hapmap];0.82[EUR][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:24)

SNP	Gene	Cis/trans	Tissue	Source
rs2848634	TIMM10	cis	Esophagus Mucosa	GTEx
rs2848634	TIMM10	cis	Lymphoblastoid	GTEx
rs2848634	SLC43A1	cis	cerebellum	SCAN
rs2848634	CMPK1	trans	parietal	SCAN
rs2848634	TIMM10	cis	Muscle Skeletal	GTEx
rs2848634	TIMM10	cis	Artery Tibial	GTEx
rs2848634	TIMM10	cis	cerebellum	SCAN
rs2848634	TIMM10	cis	Brain Pons	GTEx
rs2848634	TIMM10	cis	Esophagus Muscularis	GTEx
rs2848634	TIMM10	cis	Artery Aorta	GTEx
rs2848634	OR10Q1	cis	parietal	SCAN
rs2848634	TIMM10	cis	lymphoblastoid	seeQTL
rs2848634	TIMM10	cis	multi-tissue	Pritchard
rs2848634	TIMM10	cis	Cerebellum	GTEx
rs2848634	SLC43A1	cis	parietal	SCAN
rs2848634	TIMM10	cis	lesional skin	skin_eQTL
rs2848634	TIMM10	cis	parietal	SCAN
rs2848634	TIMM10	Cis_1M	lymphoblastoid	RTeQTL
rs2848634	TIMM10	cis	Thyroid	GTEx
rs2848634	TIMM10	cis	Temporal Cortex	GTEx
rs2848634	SLC43A3	cis	cerebellum	SCAN
rs2848634	TIMM10	cis	Frontal Cortex	GTEx
rs2848634	OR5AP2	cis	parietal	SCAN
rs2848634	TIMM10	cis	Heart Left Ventricle	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57250600-57259600	Strong transcription	Pancreas	Pancrea
2	chr11:57250800-57252600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
3	chr11:57250800-57259600	Strong transcription	HepG2	liver
4	chr11:57250800-57266000	Weak transcription	Right Atrium	heart
5	chr11:57251000-57253000	Weak transcription	Colonic Mucosa	Colon
6	chr11:57251000-57254000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr11:57251000-57254600	Weak transcription	NHLF	lung
8	chr11:57251000-57254800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:57251000-57260600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:57251000-57261400	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:57251000-57266800	Weak transcription	HUVEC	blood vessel
12	chr11:57251000-57267400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:57251200-57252600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:57251200-57252600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:57251200-57252800	Weak transcription	Osteobl	bone
16	chr11:57251200-57254000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:57251200-57254600	Weak transcription	Psoas Muscle	Psoas
18	chr11:57251200-57254600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:57251200-57255200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:57251200-57255200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:57251200-57257600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:57251200-57259600	Strong transcription	Liver	Liver
23	chr11:57251200-57260800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:57251200-57260800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:57251200-57261000	Weak transcription	Brain Angular Gyrus	brain
26	chr11:57251200-57261000	Weak transcription	Dnd41	blood
27	chr11:57251200-57263800	Strong transcription	Ovary	ovary
28	chr11:57251200-57266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:57251200-57266800	Weak transcription	HSMM	muscle
30	chr11:57251200-57280600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr11:57251400-57252400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:57251400-57252400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:57251400-57252400	Enhancers	Fetal Brain Female	brain
34	chr11:57251400-57252600	Enhancers	GM12878-XiMat	blood
35	chr11:57251400-57253600	Enhancers	Primary hematopoietic stem cells	blood
36	chr11:57251400-57253600	Strong transcription	Rectal Smooth Muscle	rectum
37	chr11:57251400-57254600	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:57251400-57255600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:57251400-57258200	Weak transcription	NHDF-Ad	bronchial
40	chr11:57251400-57261200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:57251400-57266000	Weak transcription	Brain Substantia Nigra	brain
42	chr11:57251400-57266200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:57251400-57266400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:57251400-57266800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:57251400-57279200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr11:57251400-57281200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:57251600-57252400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:57251600-57252400	Genic enhancers	Fetal Muscle Leg	muscle
49	chr11:57251600-57252400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr11:57251600-57252600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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