Variant report

Variant	rs17055371
Chromosome Location	chr9:73216023-73216024
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	chr9:73027361..73029431-chr9:73215133..73217695,2	MCF-7	breast:
2	chr9:73027266..73029543-chr9:73214083..73216680,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119138	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10521439	0.94[ASN][1000 genomes]
rs11790957	0.92[ASN][1000 genomes]
rs35752058	0.87[ASN][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	nsv831616	chr9:73077855-73220928	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv614598	chr9:73193371-73218656	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17055371	SLC39A12	trans	lymphoblastoid	seeQTL
rs17055371	SIRPG	trans	lymphoblastoid	seeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73201200-73216200	Weak transcription	Lung	lung
2	chr9:73206600-73227800	Weak transcription	Aorta	Aorta
3	chr9:73211400-73216400	Weak transcription	Fetal Kidney	kidney
4	chr9:73213600-73224600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:73214200-73220400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:73215000-73216200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr9:73215000-73216200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr9:73215000-73216600	Enhancers	Brain Angular Gyrus	brain
9	chr9:73215000-73216600	Enhancers	Spleen	Spleen
10	chr9:73215000-73216800	Enhancers	Brain Cingulate Gyrus	brain
11	chr9:73215000-73217000	Enhancers	Colon Smooth Muscle	Colon
12	chr9:73215000-73217000	Enhancers	Fetal Muscle Trunk	muscle
13	chr9:73215000-73217600	Enhancers	Ovary	ovary
14	chr9:73215000-73218200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:73215200-73216200	Enhancers	Fetal Lung	lung
16	chr9:73215200-73216400	Enhancers	Adipose Nuclei	Adipose
17	chr9:73215200-73216800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr9:73215200-73216800	Enhancers	Fetal Brain Male	brain
19	chr9:73215200-73217000	Enhancers	Right Atrium	heart
20	chr9:73215200-73217200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:73215200-73217400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr9:73215200-73217400	Flanking Active TSS	HSMMtube	muscle
23	chr9:73215200-73217800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:73215200-73217800	Enhancers	Left Ventricle	heart
25	chr9:73215400-73216400	Enhancers	Brain Hippocampus Middle	brain
26	chr9:73215400-73216400	Enhancers	HUVEC	blood vessel
27	chr9:73215400-73216800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:73215400-73217000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:73215400-73217400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:73215400-73217400	Flanking Active TSS	HSMM	muscle
31	chr9:73215400-73217800	Enhancers	Fetal Muscle Leg	muscle
32	chr9:73215400-73218000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr9:73215400-73218000	Enhancers	Fetal Stomach	stomach
34	chr9:73215600-73216200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:73215600-73216200	Enhancers	Brain Anterior Caudate	brain
36	chr9:73215600-73216400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:73215600-73216400	Enhancers	Brain Substantia Nigra	brain
38	chr9:73215600-73216400	Enhancers	HMEC	breast
39	chr9:73215600-73216600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:73215600-73216800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:73215600-73217000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:73215600-73217400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:73215600-73217400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:73215600-73217400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:73215600-73217400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr9:73215600-73217600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr9:73215600-73217800	Enhancers	Fetal Heart	heart
48	chr9:73215800-73216200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:73215800-73216200	Bivalent Enhancer	Fetal Intestine Small	intestine
50	chr9:73215800-73216400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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