Variant report

Variant	rs470300
Chromosome Location	chr11:66389686-66389687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66389675..66391649-chr11:66622938..66624822,2	MCF-7	breast:
2	chr11:66372929..66374706-chr11:66388888..66391627,2	MCF-7	breast:
3	chr11:66389193..66391844-chr11:66443864..66446164,2	MCF-7	breast:
4	chr11:66388804..66391779-chr11:66613540..66615544,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173621	Chromatin interaction
ENSG00000173914	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1110708	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs615536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs664297	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs73505425	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs470300	RIN1	cis	Whole Blood	GTEx
rs470300	RIN1	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66385400-66406200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66386000-66390600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:66386200-66398400	Strong transcription	Fetal Muscle Trunk	muscle
4	chr11:66386400-66391600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:66386600-66390200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:66386600-66390200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:66386600-66391600	Enhancers	Stomach Mucosa	stomach
8	chr11:66386800-66390000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:66386800-66390200	Weak transcription	Fetal Kidney	kidney
10	chr11:66386800-66390400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr11:66386800-66390400	Weak transcription	Aorta	Aorta
12	chr11:66386800-66391600	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr11:66386800-66393200	Weak transcription	HSMMtube	muscle
14	chr11:66386800-66393400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:66386800-66405600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:66387000-66390800	Genic enhancers	A549	lung
17	chr11:66387000-66391200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:66387000-66391200	Genic enhancers	Osteobl	bone
19	chr11:66387000-66391600	Enhancers	Fetal Heart	heart
20	chr11:66387000-66392600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:66387000-66393600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:66387000-66403400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:66387400-66390000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:66387400-66390600	Enhancers	Rectal Smooth Muscle	rectum
25	chr11:66387600-66389800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:66387600-66389800	Enhancers	Adipose Nuclei	Adipose
27	chr11:66387600-66390000	Weak transcription	Fetal Brain Male	brain
28	chr11:66387600-66390000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:66387600-66390400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:66387600-66390400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr11:66387600-66390400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:66387600-66390600	Weak transcription	Colonic Mucosa	Colon
33	chr11:66387600-66391200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:66387600-66392400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr11:66387600-66397000	Genic enhancers	Primary T cells fromperipheralblood	blood
36	chr11:66387600-66401800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:66387800-66390000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:66387800-66390000	Strong transcription	Fetal Intestine Small	intestine
39	chr11:66387800-66390200	Weak transcription	NHDF-Ad	bronchial
40	chr11:66387800-66391000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:66387800-66391200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:66387800-66391200	Enhancers	Small Intestine	intestine
43	chr11:66388000-66391400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:66388200-66390000	Weak transcription	Fetal Lung	lung
45	chr11:66388200-66392400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:66388200-66392800	Enhancers	Right Atrium	heart
47	chr11:66388400-66390000	Weak transcription	Brain Anterior Caudate	brain
48	chr11:66388400-66390200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:66388400-66390600	Enhancers	Left Ventricle	heart
50	chr11:66388400-66390800	Genic enhancers	Hela-S3	cervix

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