Variant report

Variant	rs12551599
Chromosome Location	chr9:116649960-116649961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116622477..116624312-chr9:116649201..116651744,2	MCF-7	breast:
2	chr9:116637356..116640118-chr9:116647677..116650674,3	MCF-7	breast:
3	chr9:116638072..116644235-chr9:116644601..116650376,14	K562	blood:

Variant related genes	Relation type
ENSG00000157657	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13285566	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs13301669	0.98[EUR][1000 genomes]
rs16910363	0.81[ASN][1000 genomes]
rs17200294	0.90[EUR][1000 genomes]
rs17200714	0.92[EUR][1000 genomes]
rs34488026	0.88[EUR][1000 genomes]
rs34727401	0.95[EUR][1000 genomes]
rs4978558	0.82[ASN][1000 genomes]
rs4979289	0.87[AMR][1000 genomes]
rs4979290	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs58148408	0.84[ASN][1000 genomes]
rs60615197	0.84[ASN][1000 genomes]
rs62559169	0.91[ASN][1000 genomes]
rs7040810	0.90[EUR][1000 genomes]
rs7041034	0.90[EUR][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	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116639200-116652800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:116639200-116663400	Weak transcription	Gastric	stomach
3	chr9:116644600-116650400	Weak transcription	Brain Germinal Matrix	brain
4	chr9:116646800-116650400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:116646800-116650600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:116646800-116650800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr9:116647000-116650200	Enhancers	HUVEC	blood vessel
8	chr9:116647000-116650600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr9:116647000-116650800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr9:116647000-116651800	Enhancers	Fetal Muscle Leg	muscle
11	chr9:116647400-116651200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr9:116647600-116650000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr9:116648000-116651200	Enhancers	Fetal Stomach	stomach
14	chr9:116648200-116650600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr9:116648200-116651000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr9:116648600-116650600	Weak transcription	Placenta	Placenta
17	chr9:116648600-116650600	Enhancers	Right Ventricle	heart
18	chr9:116648800-116650000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:116648800-116650200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:116648800-116650200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:116648800-116650400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr9:116649000-116650400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr9:116649000-116650800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:116649000-116651000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:116649000-116651000	Enhancers	NHEK	skin
26	chr9:116649000-116651800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:116649000-116652000	Weak transcription	Thymus	Thymus
28	chr9:116649000-116652800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:116649000-116653000	Weak transcription	Brain Anterior Caudate	brain
30	chr9:116649200-116650000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr9:116649200-116650200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:116649200-116650200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:116649200-116650400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr9:116649200-116650600	Weak transcription	Left Ventricle	heart
35	chr9:116649200-116650600	Enhancers	NHDF-Ad	bronchial
36	chr9:116649200-116651000	Enhancers	Liver	Liver
37	chr9:116649200-116651000	Enhancers	Lung	lung
38	chr9:116649200-116651200	Enhancers	Spleen	Spleen
39	chr9:116649200-116651400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:116649200-116651400	Enhancers	Adipose Nuclei	Adipose
41	chr9:116649200-116651400	Enhancers	HMEC	breast
42	chr9:116649200-116651800	Weak transcription	HSMM	muscle
43	chr9:116649200-116652000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr9:116649200-116652200	Enhancers	Aorta	Aorta
45	chr9:116649200-116652200	Enhancers	Ovary	ovary
46	chr9:116649200-116658000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr9:116649400-116650000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr9:116649400-116650000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:116649400-116650600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr9:116649600-116650000	Enhancers	Duodenum Smooth Muscle	Duodenum

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