Variant report

Variant	rs34392447
Chromosome Location	chr2:150954403-150954404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:150952630..150954953-chr2:151336978..151338974,2	MCF-7	breast:
2	chr2:150951962..150954723-chr2:151342687..151345350,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115963	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs35176854	1.00[AFR][1000 genomes]
rs35314912	1.00[EUR][1000 genomes]
rs71413676	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs71413682	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv875285	chr2:150904671-150985765	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv469524	chr2:150927500-151076920	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:150951200-150955400	Enhancers	Fetal Lung	lung
2	chr2:150952400-150956800	Weak transcription	Pancreas	Pancrea
3	chr2:150953800-150955400	Enhancers	Brain Germinal Matrix	brain
4	chr2:150954000-150955000	Enhancers	Adipose Nuclei	Adipose
5	chr2:150954000-150955000	Enhancers	Liver	Liver
6	chr2:150954000-150955200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:150954000-150955400	Enhancers	Fetal Intestine Small	intestine
8	chr2:150954000-150958800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:150954200-150955000	Enhancers	Fetal Stomach	stomach
10	chr2:150954200-150955200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:150954200-150955200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:150954200-150955200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:150954200-150955200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:150954200-150955200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:150954200-150955200	Enhancers	Fetal Intestine Large	intestine
16	chr2:150954200-150955200	Enhancers	NHEK	skin
17	chr2:150954400-150954600	Enhancers	Aorta	Aorta
18	chr2:150954400-150954800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:150954400-150955000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:150954400-150955000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:150954400-150955000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:150954400-150955000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:150954400-150955000	Active TSS	Duodenum Mucosa	Duodenum
24	chr2:150954400-150955000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr2:150954400-150955000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:150954400-150955000	Enhancers	Fetal Kidney	kidney
27	chr2:150954400-150955000	Flanking Active TSS	HUVEC	blood vessel
28	chr2:150954400-150955000	Enhancers	NHDF-Ad	bronchial
29	chr2:150954400-150955000	Enhancers	Osteobl	bone
30	chr2:150954400-150955200	Enhancers	A549	lung
31	chr2:150954400-150955200	Enhancers	HMEC	breast
32	chr2:150954400-150955400	Enhancers	Stomach Mucosa	stomach

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