Variant report

Variant	rs57466874
Chromosome Location	chr11:66631876-66631877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66631575-66632232	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66629433..66632533-chr11:66643859..66646288,3	MCF-7	breast:
2	chr11:66631212..66633806-chr11:66789493..66791177,2	MCF-7	breast:
3	chr11:66630647..66633032-chr11:67007039..67009037,2	MCF-7	breast:

Variant related genes	Relation type
PC	TF binding region
ENSG00000173227	Chromatin interaction
ENSG00000173120	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1127145	1.00[ASN][1000 genomes]
rs11828542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147932	1.00[ASN][1000 genomes]
rs2380756	0.89[AMR][1000 genomes]
rs2380757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2380758	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802743	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4397861	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500496	1.00[ASN][1000 genomes]
rs56803995	1.00[ASN][1000 genomes]
rs57240313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57410747	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58800112	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59431265	1.00[ASN][1000 genomes]
rs59538303	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59550560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59566349	1.00[ASN][1000 genomes]
rs59932755	1.00[ASN][1000 genomes]
rs60651024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61634527	1.00[ASN][1000 genomes]
rs7952232	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription 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 target site	70 gene(s)	inside rSNPs	diseases
3	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
7	nsv897795	chr11:66608521-66637926	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66624200-66645000	Weak transcription	Fetal Kidney	kidney
2	chr11:66624400-66636000	Weak transcription	Primary T cells from cord blood	blood
3	chr11:66624400-66637400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:66624400-66640200	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:66624800-66637400	Weak transcription	Aorta	Aorta
6	chr11:66625000-66636200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr11:66625000-66648800	Weak transcription	Right Atrium	heart
8	chr11:66625400-66632000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr11:66625400-66632200	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:66625400-66632800	Weak transcription	HepG2	liver
11	chr11:66625400-66634600	Strong transcription	Fetal Stomach	stomach
12	chr11:66625400-66636000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:66625400-66636000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:66625400-66642200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:66625400-66642200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:66625400-66645400	Weak transcription	Fetal Lung	lung
17	chr11:66625400-66645800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:66625400-66648000	Weak transcription	Left Ventricle	heart
19	chr11:66625400-66650600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:66625600-66636000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:66625600-66636200	Strong transcription	Fetal Intestine Small	intestine
22	chr11:66625800-66636200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:66625800-66636400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:66625800-66650800	Weak transcription	Osteobl	bone
25	chr11:66626000-66633600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:66626200-66632000	Weak transcription	Fetal Heart	heart
27	chr11:66626200-66634200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:66626400-66634800	Strong transcription	Liver	Liver
29	chr11:66626800-66634200	Strong transcription	Brain Germinal Matrix	brain
30	chr11:66627000-66636400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:66627000-66643000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:66627400-66632800	Strong transcription	Fetal Brain Female	brain
33	chr11:66627400-66634400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:66627400-66636000	Weak transcription	Fetal Intestine Large	intestine
35	chr11:66627400-66636000	Weak transcription	Fetal Thymus	thymus
36	chr11:66627400-66636400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:66627400-66636400	Weak transcription	Stomach Mucosa	stomach
38	chr11:66627400-66637000	Weak transcription	Lung	lung
39	chr11:66627400-66637200	Weak transcription	Ovary	ovary
40	chr11:66627400-66638200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:66627400-66642400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:66627600-66632000	Strong transcription	Brain Substantia Nigra	brain
43	chr11:66627800-66650000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:66628000-66637000	Weak transcription	Right Ventricle	heart
45	chr11:66628200-66632200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:66628400-66634000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:66628400-66636000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:66628600-66636400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:66628800-66636000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:66628800-66636200	Weak transcription	Thymus	Thymus

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