Variant report

Variant	rs12554684
Chromosome Location	chr9:101753119-101753120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101751401..101755112-chr9:101755767..101760642,5	MCF-7	breast:
2	chr9:101750729..101753162-chr9:101895041..101897883,2	MCF-7	breast:
3	chr9:101749508..101753145-chr9:101836719..101839131,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12005080	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1543709	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16918106	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16918113	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2075662	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2900147	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3780624	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4327910	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4743303	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4743307	0.91[EUR][1000 genomes]
rs56997979	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57410362	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59112541	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs989392	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv6635	chr9:101728257-101773253	Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101737800-101760800	Weak transcription	Gastric	stomach
2	chr9:101740400-101753400	Weak transcription	Spleen	Spleen
3	chr9:101740400-101756800	Weak transcription	Ovary	ovary
4	chr9:101742800-101754200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:101746800-101754400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:101749000-101753200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:101749200-101753200	Enhancers	Right Ventricle	heart
8	chr9:101749800-101753400	Enhancers	HSMM	muscle
9	chr9:101750000-101753600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:101750200-101755200	Weak transcription	Brain Substantia Nigra	brain
11	chr9:101750400-101753200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:101750400-101754400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:101750600-101753200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:101751400-101753200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr9:101751800-101753200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr9:101751800-101755200	Strong transcription	Fetal Muscle Leg	muscle
17	chr9:101752000-101760800	Weak transcription	Brain Hippocampus Middle	brain
18	chr9:101752200-101753800	Strong transcription	Fetal Stomach	stomach
19	chr9:101752400-101755400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:101752600-101754200	Weak transcription	Stomach Mucosa	stomach
21	chr9:101752600-101755200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:101752600-101755800	Weak transcription	Colon Smooth Muscle	Colon
23	chr9:101752800-101753200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:101752800-101753400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr9:101752800-101755000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr9:101752800-101755200	Weak transcription	Fetal Heart	heart
27	chr9:101752800-101755600	Weak transcription	A549	lung
28	chr9:101753000-101753800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr9:101753000-101754400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:101753000-101754800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr9:101753000-101755000	Strong transcription	Adipose Nuclei	Adipose
32	chr9:101753000-101755200	Weak transcription	HSMMtube	muscle
33	chr9:101753000-101755200	Weak transcription	NHDF-Ad	bronchial
34	chr9:101753000-101755400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:101753000-101755600	Weak transcription	Left Ventricle	heart
36	chr9:101753000-101756600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:101753000-101756600	Weak transcription	Right Atrium	heart
38	chr9:101753000-101756800	Weak transcription	Pancreas	Pancrea
39	chr9:101753000-101759800	Weak transcription	Hela-S3	cervix

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