Variant report

Variant	rs552390616
Chromosome Location	chr2:134000092-134000093
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:133999579..134001370-chr2:134029081..134031077,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949629	chr2:133830379-134014961	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1001601	chr2:133838626-134005959	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1011100	chr2:133900062-134046163	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1005405	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv535929	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv516915	chr2:133999831-134054662	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133991600-134005400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:133994000-134023600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:133997800-134000400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:133998400-134005000	Weak transcription	Psoas Muscle	Psoas
5	chr2:133998400-134005800	Weak transcription	Left Ventricle	heart
6	chr2:133998600-134003800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:133998800-134004600	Weak transcription	Fetal Heart	heart
8	chr2:133998800-134013000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:133998800-134014800	Weak transcription	Fetal Stomach	stomach
10	chr2:133999000-134000600	Enhancers	Brain Substantia Nigra	brain
11	chr2:133999000-134005000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:133999200-134001200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:133999200-134003200	Weak transcription	Fetal Brain Male	brain
14	chr2:133999200-134003400	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:133999200-134003600	Weak transcription	Fetal Brain Female	brain
16	chr2:133999200-134003600	Weak transcription	Fetal Lung	lung
17	chr2:133999200-134005400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:133999200-134007800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:133999400-134000200	Enhancers	Hela-S3	cervix
20	chr2:133999400-134000600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:133999400-134001000	Weak transcription	Brain Anterior Caudate	brain
22	chr2:133999400-134003800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:133999400-134005200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:133999400-134005200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:133999400-134005200	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:133999400-134005400	Weak transcription	Ovary	ovary
27	chr2:133999400-134005800	Weak transcription	Lung	lung
28	chr2:133999600-134001000	Weak transcription	Right Ventricle	heart
29	chr2:134000000-134000200	Enhancers	NHLF	lung

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