Variant report

Variant	rs57412003
Chromosome Location	chr9:94179953-94179954
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	chr9:93677407..93679291-chr9:94178811..94181688,2	MCF-7	breast:
2	chr9:94122676..94124543-chr9:94177865..94180016,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148090	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10512214	1.00[AMR][1000 genomes]
rs11998997	1.00[AMR][1000 genomes]
rs12001758	1.00[AMR][1000 genomes]
rs12003741	1.00[AMR][1000 genomes]
rs16907588	1.00[AMR][1000 genomes]
rs16907602	1.00[AMR][1000 genomes]
rs4381076	1.00[AMR][1000 genomes]
rs57006470	1.00[AMR][1000 genomes]
rs59365117	1.00[AMR][1000 genomes]
rs61094317	1.00[AMR][1000 genomes]
rs7026091	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494674	1.00[AMR][1000 genomes]
rs73496706	1.00[AMR][1000 genomes]
rs73496717	1.00[AMR][1000 genomes]
rs73496726	1.00[AMR][1000 genomes]
rs73496729	1.00[AMR][1000 genomes]
rs73496737	1.00[AMR][1000 genomes]
rs73496741	1.00[AMR][1000 genomes]
rs73496743	1.00[AMR][1000 genomes]
rs73505249	0.83[AFR][1000 genomes]
rs73513020	1.00[AMR][1000 genomes]
rs73513032	1.00[AMR][1000 genomes]
rs73513043	1.00[AMR][1000 genomes]
rs73513061	1.00[AMR][1000 genomes]
rs73513068	1.00[AMR][1000 genomes]
rs73515039	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893571	chr9:94072113-94202927	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv824980	chr9:94131502-94215911	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv466435	chr9:94165889-94225537	Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv614857	chr9:94165889-94225537	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94164200-94181800	Weak transcription	Psoas Muscle	Psoas
2	chr9:94168800-94181800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:94170600-94181400	Weak transcription	Right Atrium	heart
4	chr9:94172200-94181800	Weak transcription	Fetal Brain Male	brain
5	chr9:94172400-94181000	Weak transcription	Brain Germinal Matrix	brain
6	chr9:94172600-94181600	Weak transcription	Fetal Brain Female	brain
7	chr9:94172600-94182800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:94172800-94181800	Weak transcription	Aorta	Aorta
9	chr9:94172800-94182800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr9:94172800-94182800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr9:94172800-94183400	Weak transcription	Esophagus	oesophagus
12	chr9:94173000-94180000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr9:94173000-94180000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr9:94173000-94181400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr9:94173000-94181600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:94173000-94181600	Weak transcription	Brain Anterior Caudate	brain
17	chr9:94173000-94181600	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:94173000-94181600	Weak transcription	Left Ventricle	heart
19	chr9:94173000-94181600	Weak transcription	Ovary	ovary
20	chr9:94173000-94181600	Weak transcription	Pancreas	Pancrea
21	chr9:94173000-94181600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr9:94173000-94181600	Weak transcription	Spleen	Spleen
23	chr9:94173000-94181800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr9:94173000-94182000	Weak transcription	Brain Angular Gyrus	brain
25	chr9:94173000-94182000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr9:94173000-94182000	Weak transcription	Fetal Stomach	stomach
27	chr9:94173000-94182200	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:94173000-94182600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:94173000-94182800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr9:94173000-94182800	Weak transcription	Brain Substantia Nigra	brain
31	chr9:94173000-94182800	Weak transcription	Colonic Mucosa	Colon
32	chr9:94173000-94183000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:94173000-94183400	Weak transcription	Gastric	stomach
34	chr9:94173000-94184200	Weak transcription	Dnd41	blood
35	chr9:94173200-94181200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr9:94173200-94181400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:94173200-94181600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr9:94173200-94181800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:94173200-94182200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:94173200-94182800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:94173200-94182800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr9:94173400-94181600	Weak transcription	Placenta	Placenta
43	chr9:94173400-94182600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:94173600-94181400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr9:94173600-94182800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:94174000-94181800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr9:94174000-94182800	Weak transcription	Colon Smooth Muscle	Colon
48	chr9:94174200-94181400	Weak transcription	Stomach Mucosa	stomach
49	chr9:94174600-94180600	Weak transcription	K562	blood
50	chr9:94174800-94181400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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