Variant report

Variant	rs61458234
Chromosome Location	chr11:64629281-64629282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr11:64628811-64629463	GM12878	blood:	n/a	n/a
2	ELF1	chr11:64629078-64629458	K562	blood:	n/a	chr11:64629263-64629276
3	MTA3	chr11:64628617-64629430	GM12878	blood:	n/a	n/a
4	SPI1	chr11:64628886-64629610	GM12878	blood:	n/a	n/a
5	MYC	chr11:64628968-64629302	NB4	blood:	n/a	n/a
6	MAX	chr11:64628849-64629329	NB4	blood:	n/a	n/a
7	TBL1XR1	chr11:64628964-64629325	GM12878	blood:	n/a	n/a
8	GABPA	chr11:64628989-64629482	A549	lung:	n/a	n/a
9	POLR2A	chr11:64615614-64641325	GM12878	blood:	n/a	n/a
10	SPI1	chr11:64629150-64629357	K562	blood:	n/a	n/a
11	RUNX3	chr11:64628949-64629468	GM12878	blood:	n/a	n/a
12	SPI1	chr11:64629086-64629457	GM12891	blood:	n/a	n/a
13	SPI1	chr11:64629109-64629354	K562	blood:	n/a	n/a
14	SPI1	chr11:64629114-64629489	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:64628429-64635030	GM12878	blood:	n/a	n/a
16	SPI1	chr11:64629145-64629373	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:64628499-64629364	GM12892	blood:	n/a	n/a
18	SPI1	chr11:64629058-64629411	HL-60	blood:	n/a	n/a
19	POLR2A	chr11:64628444-64629321	GM12892	blood:	n/a	n/a
20	SPI1	chr11:64628885-64629425	HL-60	blood:	n/a	n/a
21	SPI1	chr11:64629071-64629372	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64628928..64631911-chr11:64900094..64902138,2	MCF-7	breast:

No data

Variant related genes	Relation type
EHD1	TF binding region
ENSG00000162298	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17146407	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3888184	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3888185	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56326606	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56410527	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7105257	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7123368	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:125 , 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	chr11:64613000-64629800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:64613000-64630600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:64617600-64629600	Weak transcription	Fetal Brain Male	brain
5	chr11:64619200-64630200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:64619800-64632400	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr11:64620800-64630200	Weak transcription	Fetal Kidney	kidney
8	chr11:64622800-64630400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:64623000-64630000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:64623200-64629800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:64623200-64630800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:64623200-64633000	Enhancers	Primary hematopoietic stem cells	blood
13	chr11:64623400-64630600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:64624200-64630600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr11:64624400-64629400	Strong transcription	Fetal Stomach	stomach
16	chr11:64624600-64629800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:64625200-64630200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:64625400-64634200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:64626400-64630000	Weak transcription	NH-A	brain
20	chr11:64626400-64644800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:64626600-64631000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr11:64626800-64630000	Weak transcription	Fetal Heart	heart
23	chr11:64627200-64629800	Weak transcription	HUVEC	blood vessel
24	chr11:64627400-64629800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:64627400-64629800	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:64627400-64633000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:64627600-64629600	Weak transcription	Fetal Lung	lung
28	chr11:64627600-64629800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:64627600-64629800	Weak transcription	Brain Angular Gyrus	brain
30	chr11:64627600-64629800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:64627600-64630000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:64627600-64630200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:64627600-64630600	Weak transcription	Pancreas	Pancrea
34	chr11:64627600-64630600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr11:64627600-64633200	Enhancers	Fetal Thymus	thymus
36	chr11:64627800-64629600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:64627800-64629800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:64627800-64629800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:64627800-64629800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:64627800-64629800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:64627800-64629800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr11:64627800-64629800	Weak transcription	Brain Anterior Caudate	brain
43	chr11:64627800-64629800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:64627800-64629800	Weak transcription	Brain Germinal Matrix	brain
45	chr11:64627800-64629800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:64627800-64629800	Weak transcription	Fetal Brain Female	brain
47	chr11:64627800-64629800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:64627800-64629800	Enhancers	Stomach Smooth Muscle	stomach
49	chr11:64627800-64629800	Weak transcription	HSMMtube	muscle
50	chr11:64627800-64629800	Weak transcription	NHEK	skin

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