Variant report

Variant	rs11164969
Chromosome Location	chr1:94195896-94195897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94146957..94149013-chr1:94194434..94197028,2	MCF-7	breast:
2	chr1:94194863..94197448-chr1:94201555..94203436,2	K562	blood:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

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

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

rs_ID	r²[population]
rs10489603	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs12123957	0.91[ASN][1000 genomes]
rs12565817	0.81[CHB][hapmap];0.81[CHD][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11164969	GPS2	trans	parietal	SCAN
rs11164969	LRRC8B	cis	parietal	SCAN
rs11164969	RP11-488P3.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94188000-94198400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:94188800-94198400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:94189000-94200000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:94189400-94197400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:94189600-94198200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:94189800-94196000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:94190000-94196600	Weak transcription	Hela-S3	cervix
8	chr1:94190000-94199000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:94190200-94198200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:94190400-94199000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:94190600-94200800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:94193000-94198000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:94193400-94198000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:94193600-94196600	Enhancers	Fetal Muscle Leg	muscle
15	chr1:94193800-94196000	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:94193800-94198200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:94194000-94196600	Enhancers	GM12878-XiMat	blood
18	chr1:94194000-94198000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:94194400-94196000	Enhancers	Fetal Brain Male	brain
20	chr1:94194400-94197000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:94194400-94197400	Weak transcription	Right Atrium	heart
22	chr1:94194800-94197400	Weak transcription	Adipose Nuclei	Adipose
23	chr1:94195200-94196000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:94195200-94196400	Weak transcription	Spleen	Spleen
25	chr1:94195200-94196600	Enhancers	Fetal Lung	lung
26	chr1:94195200-94196600	Enhancers	Lung	lung
27	chr1:94195200-94197800	Enhancers	Placenta	Placenta
28	chr1:94195400-94199200	Weak transcription	Brain Angular Gyrus	brain
29	chr1:94195600-94198000	Enhancers	NHEK	skin
30	chr1:94195800-94196000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:94195800-94196000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr1:94195800-94196200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr1:94195800-94196400	Enhancers	Brain Hippocampus Middle	brain
34	chr1:94195800-94196400	Enhancers	Brain Substantia Nigra	brain
35	chr1:94195800-94196600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:94195800-94196600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:94195800-94197400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:94195800-94198000	Enhancers	HMEC	breast
39	chr1:94195800-94199000	Enhancers	Fetal Thymus	thymus

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