Variant report

Variant	rs12000064
Chromosome Location	chr9:79276481-79276482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:79275845..79278992-chr9:79281949..79283802,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10869794	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11144988	1.00[YRI][hapmap]
rs11144991	1.00[YRI][hapmap]
rs11144999	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11145001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12349868	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59087160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7867080	1.00[YRI][hapmap]

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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79252600-79278000	Weak transcription	Gastric	stomach
2	chr9:79259000-79278000	Weak transcription	Spleen	Spleen
3	chr9:79260000-79282400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:79263600-79282200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:79266000-79278000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:79266400-79306800	Weak transcription	Fetal Stomach	stomach
7	chr9:79266600-79282200	Weak transcription	Brain Anterior Caudate	brain
8	chr9:79269000-79278000	Weak transcription	Aorta	Aorta
9	chr9:79269400-79277000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr9:79269800-79282200	Weak transcription	Brain Substantia Nigra	brain
11	chr9:79270400-79277000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:79270400-79277200	Weak transcription	GM12878-XiMat	blood
13	chr9:79270400-79303000	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:79270600-79278800	Weak transcription	Brain Angular Gyrus	brain
15	chr9:79271600-79285200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr9:79272000-79276800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:79272200-79277000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr9:79272600-79277400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:79272600-79282000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:79272800-79277000	Weak transcription	HUVEC	blood vessel
21	chr9:79273400-79277800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr9:79273600-79281200	Weak transcription	Colonic Mucosa	Colon
23	chr9:79273600-79282000	Weak transcription	Osteobl	bone
24	chr9:79273600-79282600	Weak transcription	Fetal Intestine Large	intestine
25	chr9:79273800-79277400	Weak transcription	Primary B cells from cord blood	blood
26	chr9:79274000-79276600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:79274000-79276800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:79274000-79276800	Weak transcription	HSMM	muscle
29	chr9:79274000-79277000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:79274000-79277200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr9:79274000-79277400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr9:79274000-79277600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr9:79274000-79277800	Weak transcription	Stomach Mucosa	stomach
34	chr9:79274000-79278000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr9:79274000-79278000	Weak transcription	Fetal Lung	lung
36	chr9:79274000-79278800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr9:79274000-79279200	Weak transcription	Fetal Intestine Small	intestine
38	chr9:79274000-79280400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:79274000-79281200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:79274000-79282200	Weak transcription	NHDF-Ad	bronchial
41	chr9:79274200-79277200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr9:79274200-79277200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:79274200-79277200	Weak transcription	Brain Hippocampus Middle	brain
44	chr9:79274200-79277400	Weak transcription	Fetal Thymus	thymus
45	chr9:79274200-79277800	Weak transcription	HSMMtube	muscle
46	chr9:79274400-79276800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr9:79276000-79277800	Weak transcription	Fetal Muscle Leg	muscle

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