Variant report

Variant	rs11046704
Chromosome Location	chr12:8828383-8828384
allele	C/T
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	ZNF384	chr12:8828102-8828661	GM12878	blood:	n/a	n/a
2	SPI1	chr12:8828008-8828474	HL-60	blood:	n/a	n/a
3	TBP	chr12:8828141-8828542	GM12878	blood:	n/a	n/a
4	BHLHE40	chr12:8828366-8828557	GM12878	blood:	n/a	n/a
5	EP300	chr12:8828286-8828615	GM12878	blood:	n/a	n/a
6	EP300	chr12:8828209-8828652	GM12878	blood:	n/a	n/a
7	EP300	chr12:8828055-8828677	GM12878	blood:	n/a	n/a
8	SPI1	chr12:8827995-8828396	HL-60	blood:	n/a	n/a
9	CHD2	chr12:8828174-8828689	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8828310..8831126-chr12:8850757..8852342,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256004	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11608477	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61919240	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7132012	0.84[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11046704	RIMKLB	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8811800-8829600	Weak transcription	Thymus	Thymus
2	chr12:8821600-8845000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:8824000-8833600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:8827600-8828800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:8827600-8829000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:8827600-8829400	Enhancers	HUVEC	blood vessel
7	chr12:8827800-8828400	Enhancers	Brain Anterior Caudate	brain
8	chr12:8827800-8828600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:8827800-8828800	Enhancers	Fetal Kidney	kidney
10	chr12:8827800-8829000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr12:8827800-8829600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:8827800-8829800	Enhancers	Adipose Nuclei	Adipose
13	chr12:8828000-8828400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:8828000-8828400	Enhancers	Hela-S3	cervix
15	chr12:8828000-8828600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:8828000-8828600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr12:8828000-8828600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:8828000-8828800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr12:8828000-8828800	Enhancers	Fetal Intestine Small	intestine
20	chr12:8828000-8829600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:8828000-8830000	Enhancers	Primary T cells from cord blood	blood
22	chr12:8828000-8833400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:8828200-8828400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:8828200-8828600	Enhancers	A549	lung

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