Variant report

Variant	rs13285019
Chromosome Location	chr9:95902647-95902648
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95902234..95904714-chr9:95904881..95906837,2	MCF-7	breast:
2	chr9:95900207..95903204-chr9:95903529..95906753,3	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1127857	1.00[ASN][1000 genomes]
rs12004134	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12005054	1.00[ASN][1000 genomes]
rs13284407	1.00[ASN][1000 genomes]
rs13284544	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13284731	1.00[ASN][1000 genomes]
rs13285107	1.00[ASN][1000 genomes]
rs13286331	1.00[ASN][1000 genomes]
rs13294417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13297094	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13298119	1.00[ASN][1000 genomes]
rs13299270	1.00[ASN][1000 genomes]
rs13300450	1.00[ASN][1000 genomes]
rs34297115	1.00[ASN][1000 genomes]
rs34476050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35476990	1.00[ASN][1000 genomes]
rs36034699	1.00[ASN][1000 genomes]
rs4743906	1.00[ASN][1000 genomes]
rs7035004	1.00[ASN][1000 genomes]
rs7037142	1.00[ASN][1000 genomes]
rs7871317	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1035230	chr9:95770249-95934982	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1824329	chr9:95811604-95921347	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv893579	chr9:95855100-95923091	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv893581	chr9:95872216-95930334	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv824983	chr9:95902154-95978408	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13285019	NINJ1	cis	Artery Tibial	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95897200-95906200	Weak transcription	Right Atrium	heart
2	chr9:95897400-95906200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:95897600-95904600	Weak transcription	Psoas Muscle	Psoas
4	chr9:95897600-95906000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:95897600-95906200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr9:95897800-95903000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr9:95897800-95903000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr9:95897800-95903000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr9:95898000-95904200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr9:95898600-95903200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:95898600-95904200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:95898600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:95898600-95906200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr9:95899000-95906200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr9:95899400-95906200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:95899600-95907200	Enhancers	Fetal Thymus	thymus
17	chr9:95899800-95907400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr9:95899800-95922200	Weak transcription	Gastric	stomach
19	chr9:95900400-95903400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr9:95900600-95904400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:95900800-95903000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr9:95901000-95902800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr9:95901000-95903200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr9:95901000-95905600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr9:95901000-95906000	Weak transcription	GM12878-XiMat	blood
26	chr9:95901000-95906200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr9:95901000-95906200	Weak transcription	Primary B cells from cord blood	blood
28	chr9:95901000-95906200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr9:95901000-95906200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr9:95901000-95906200	Weak transcription	Spleen	Spleen
31	chr9:95901200-95905800	Weak transcription	Brain Hippocampus Middle	brain
32	chr9:95901600-95903400	Enhancers	HepG2	liver
33	chr9:95901600-95907800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr9:95901800-95902800	Enhancers	Thymus	Thymus
35	chr9:95901800-95903400	Enhancers	Esophagus	oesophagus
36	chr9:95901800-95904600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:95901800-95905200	Enhancers	HMEC	breast
38	chr9:95901800-95906200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr9:95901800-95907400	Enhancers	Primary T cells from cord blood	blood
40	chr9:95902000-95903400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr9:95902000-95904200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:95902000-95906200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr9:95902000-95906400	Weak transcription	HSMM	muscle
44	chr9:95902200-95903200	Weak transcription	HUVEC	blood vessel
45	chr9:95902200-95904600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:95902200-95904600	Enhancers	NHEK	skin
47	chr9:95902200-95905200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:95902400-95905000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr9:95902400-95905000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr9:95902400-95907400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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