Variant report

Variant	rs17146413
Chromosome Location	chr11:64638041-64638042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64637444..64638083-chr11:64661460..64662395,4	K562	blood:
2	11:64538326-64543055..11:64631647-64642645	Hela-S3	cervix:
3	chr11:64636040..64638595-chr11:64884699..64886955,2	K562	blood:
4	chr11:64636963..64639050-chr11:64691745..64693672,2	K562	blood:
5	11:64501239-64517861..11:64631647-64642645	H1-hESC	embryonic stem cell:	embryo
6	chr11:64635250..64638806-chr11:64683120..64685118,3	MCF-7	breast:
7	11:64544826-64559210..11:64631647-64642645	GM12878	blood:
8	11:64523887-64530985..11:64631647-64642645	Hela-S3	cervix:
9	11:64620201-64626490..11:64631647-64642645	Hela-S3	cervix:
10	chr11:64637421..64640386-chr11:64788285..64790687,2	K562	blood:
11	11:64415880-64426617..11:64631647-64642645	Hela-S3	cervix:
12	chr11:64637258..64638949-chr11:64807807..64809777,2	MCF-7	breast:
13	11:64530985-64535815..11:64631647-64642645	Hela-S3	cervix:
14	11:64610127-64612855..11:64631647-64642645	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000171219	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000068976	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000269290	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000174276	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10897533	0.91[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1211284	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12573	0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs12801172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2007521	0.94[ASN][1000 genomes]
rs2077026	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3741391	0.92[ASN][1000 genomes]
rs3893108	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3936999	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs3937000	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41381745	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930280	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930281	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930685	0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs57851864	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs589556	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs602347	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs607569	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs620066	0.86[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs621608	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs622611	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs635722	0.96[ASN][1000 genomes]
rs641623	0.96[ASN][1000 genomes]
rs649208	0.90[ASN][1000 genomes]
rs653225	0.93[ASN][1000 genomes]
rs654580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs656982	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7126744	0.96[ASN][1000 genomes]
rs7926812	0.96[ASN][1000 genomes]
rs7927560	0.92[ASN][1000 genomes]
rs7943238	0.90[ASN][1000 genomes]
rs7944276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7949887	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs7952306	0.95[ASN][1000 genomes]
rs7952567	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
5	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
6	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription 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	1028 gene(s)	inside rSNPs	diseases
10	nsv870106	chr11:64610698-64640067	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv360	chr11:64632395-64659636	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1003 gene(s)	inside rSNPs	diseases
12	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17146413	EHD1	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64612600-64639000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:64626400-64644800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:64629600-64638600	Enhancers	Left Ventricle	heart
4	chr11:64631600-64639200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:64631600-64644400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:64632000-64639200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:64632200-64644200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:64632400-64638400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:64632400-64640600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:64633000-64638200	Weak transcription	Pancreas	Pancrea
11	chr11:64633800-64642000	Genic enhancers	Primary B cells from peripheral blood	blood
12	chr11:64633800-64643000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:64633800-64643400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:64633800-64643800	Genic enhancers	Spleen	Spleen
15	chr11:64635000-64639000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:64635200-64638400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:64635200-64639200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:64635200-64639600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:64635200-64639600	Genic enhancers	Fetal Stomach	stomach
20	chr11:64635200-64640800	Genic enhancers	Fetal Thymus	thymus
21	chr11:64635200-64641000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:64635200-64643200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:64635200-64643400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
24	chr11:64635400-64639000	Enhancers	Fetal Lung	lung
25	chr11:64635400-64639200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:64635400-64639800	Enhancers	Right Atrium	heart
27	chr11:64635400-64643400	Genic enhancers	Lung	lung
28	chr11:64635400-64644000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:64635600-64638200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:64635600-64639000	Enhancers	Brain Angular Gyrus	brain
31	chr11:64635600-64639200	Enhancers	Brain Cingulate Gyrus	brain
32	chr11:64635600-64639800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
33	chr11:64635600-64641000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
34	chr11:64635600-64643000	Genic enhancers	Placenta	Placenta
35	chr11:64635800-64638400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr11:64635800-64638800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:64635800-64638800	Enhancers	Stomach Mucosa	stomach
38	chr11:64635800-64639600	Enhancers	Small Intestine	intestine
39	chr11:64635800-64640400	Enhancers	Psoas Muscle	Psoas
40	chr11:64636000-64638200	Enhancers	Brain Anterior Caudate	brain
41	chr11:64636000-64638200	Transcr. at gene 5' and 3'	Osteobl	bone
42	chr11:64636000-64638600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr11:64636000-64638800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr11:64636000-64642000	Strong transcription	Dnd41	blood
45	chr11:64636200-64638400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr11:64636200-64638600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
47	chr11:64636200-64639000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr11:64636200-64639200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr11:64636200-64639600	Genic enhancers	Esophagus	oesophagus
50	chr11:64636400-64638200	Genic enhancers	Fetal Muscle Trunk	muscle

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