Variant report

Variant	rs550940586
Chromosome Location	chr3:112928859-112928860
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv877346	chr3:112893640-112938683	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv877347	chr3:112895679-112934752	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	esv3394751	chr3:112928562-112932960	Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112919400-112929200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:112922600-112929200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:112923600-112929200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:112926400-112929200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:112927200-112929200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:112927200-112929200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:112927200-112929200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:112928000-112929000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:112928200-112929200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:112928200-112929200	Enhancers	Colon Smooth Muscle	Colon
11	chr3:112928200-112929200	Enhancers	Fetal Muscle Leg	muscle
12	chr3:112928400-112929000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:112928400-112929200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:112928400-112929200	Enhancers	Fetal Stomach	stomach
15	chr3:112928400-112929200	Enhancers	Rectal Smooth Muscle	rectum
16	chr3:112928400-112929400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:112928600-112929000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:112928800-112929000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:112928800-112929000	Active TSS	Stomach Smooth Muscle	stomach
20	chr3:112928800-112929200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:112928800-112929200	Enhancers	Fetal Muscle Trunk	muscle
22	chr3:112928800-112929400	Enhancers	Fetal Lung	lung

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