Variant report

Variant	rs12349868
Chromosome Location	chr9:79273000-79273001
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:79082022..79083727-chr9:79271380..79273433,2	MCF-7	breast:
2	chr9:79062041..79063533-chr9:79272880..79274341,6	MCF-7	breast:
3	chr9:79061368..79063776-chr9:79272393..79274903,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10869794	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11144999	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11145001	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12000064	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59087160	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	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
5	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:63 , 50 per page) page: 1 2

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	chr9:79265600-79274000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:79266000-79278000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:79266400-79306800	Weak transcription	Fetal Stomach	stomach
8	chr9:79266600-79274200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:79266600-79282200	Weak transcription	Brain Anterior Caudate	brain
10	chr9:79267000-79273200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr9:79267200-79273400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:79267600-79273400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr9:79268200-79273400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr9:79268800-79273400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:79269000-79278000	Weak transcription	Aorta	Aorta
16	chr9:79269200-79273200	Weak transcription	Fetal Intestine Small	intestine
17	chr9:79269200-79273400	Weak transcription	Fetal Kidney	kidney
18	chr9:79269200-79275800	Weak transcription	Fetal Muscle Leg	muscle
19	chr9:79269400-79274000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr9:79269400-79277000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:79269800-79282200	Weak transcription	Brain Substantia Nigra	brain
22	chr9:79270400-79273800	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:79270400-79277000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr9:79270400-79277200	Weak transcription	GM12878-XiMat	blood
25	chr9:79270400-79303000	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:79270600-79273400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr9:79270600-79273400	Weak transcription	Fetal Thymus	thymus
28	chr9:79270600-79273800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:79270600-79274000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:79270600-79274000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:79270600-79275000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr9:79270600-79278800	Weak transcription	Brain Angular Gyrus	brain
33	chr9:79271200-79273400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr9:79271200-79273600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr9:79271400-79273000	Enhancers	Small Intestine	intestine
36	chr9:79271400-79273800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:79271400-79274000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:79271600-79273600	Enhancers	Primary B cells from peripheral blood	blood
39	chr9:79271600-79285200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr9:79271800-79273800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr9:79271800-79274000	Enhancers	NHLF	lung
42	chr9:79272000-79273200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr9:79272000-79273200	Weak transcription	Fetal Intestine Large	intestine
44	chr9:79272000-79273400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr9:79272000-79273400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr9:79272000-79273600	Enhancers	Osteobl	bone
47	chr9:79272000-79273800	Enhancers	HSMMtube	muscle
48	chr9:79272000-79274000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:79272000-79274000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:79272000-79274000	Enhancers	HSMM	muscle

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