Variant report

Variant	rs7119296
Chromosome Location	chr11:74391103-74391104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74389665..74391851-chr11:74392581..74394726,3	MCF-7	breast:
2	chr11:74390056..74393770-chr11:74396439..74399617,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10793103	0.82[CEU][hapmap];0.94[CHB][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10899031	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11602237	0.82[JPT][hapmap]
rs11822234	0.82[JPT][hapmap]
rs2186956	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[EUR][1000 genomes]
rs7108105	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7111585	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7119296	P4HA3	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74372000-74393000	Weak transcription	Fetal Brain Female	brain
2	chr11:74381600-74394000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:74384200-74392400	Weak transcription	Right Ventricle	heart
4	chr11:74384400-74392600	Weak transcription	Psoas Muscle	Psoas
5	chr11:74384400-74394200	Weak transcription	Lung	lung
6	chr11:74384800-74392000	Weak transcription	Placenta	Placenta
7	chr11:74384800-74392200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:74384800-74392600	Weak transcription	Spleen	Spleen
9	chr11:74384800-74394200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:74385000-74392000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:74385000-74392200	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:74385200-74392600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:74385200-74393000	Weak transcription	Brain Anterior Caudate	brain
14	chr11:74385200-74393400	Weak transcription	Brain Angular Gyrus	brain
15	chr11:74385200-74394400	Weak transcription	NHDF-Ad	bronchial
16	chr11:74385400-74393000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:74387000-74393000	Enhancers	Fetal Muscle Leg	muscle
18	chr11:74388800-74392200	Weak transcription	Pancreas	Pancrea
19	chr11:74388800-74392400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:74389600-74392200	Enhancers	Stomach Smooth Muscle	stomach
21	chr11:74390000-74395400	Weak transcription	HSMM	muscle
22	chr11:74390400-74392400	Weak transcription	A549	lung
23	chr11:74390400-74392600	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:74390400-74393600	Weak transcription	Osteobl	bone
25	chr11:74390400-74394200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:74390400-74397800	Weak transcription	K562	blood
27	chr11:74390600-74392400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:74390600-74393200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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