Variant report

Variant	rs116307702
Chromosome Location	chr2:191024385-191024386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv526659	chr2:191023961-191027133	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191022800-191024400	Enhancers	Brain Cingulate Gyrus	brain
2	chr2:191023000-191025200	Enhancers	Brain Substantia Nigra	brain
3	chr2:191023200-191026200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:191023400-191024400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:191023400-191024400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:191023400-191024400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:191023400-191024400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:191023400-191024400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:191023400-191024400	Enhancers	Brain Angular Gyrus	brain
10	chr2:191023400-191024400	Enhancers	Colonic Mucosa	Colon
11	chr2:191023400-191024400	Enhancers	Right Atrium	heart
12	chr2:191023400-191024600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:191023400-191024600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:191023400-191024600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr2:191023400-191024800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:191023400-191025400	Enhancers	Brain Hippocampus Middle	brain
17	chr2:191023600-191024400	Enhancers	Colon Smooth Muscle	Colon
18	chr2:191023600-191024400	Enhancers	Fetal Muscle Leg	muscle
19	chr2:191023600-191024400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr2:191023600-191025400	Enhancers	Adipose Nuclei	Adipose
21	chr2:191023600-191026800	Enhancers	Osteobl	bone
22	chr2:191023800-191024400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:191023800-191025400	Enhancers	NHDF-Ad	bronchial
24	chr2:191024000-191024600	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr2:191024000-191025000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:191024000-191025000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:191024000-191025000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:191024200-191024400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:191024200-191024400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr2:191024200-191024600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr2:191024200-191024800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:191024200-191024800	Weak transcription	GM12878-XiMat	blood
33	chr2:191024200-191025000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:191024200-191025000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:191024200-191025200	Enhancers	NHEK	skin

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