Variant report

Variant	rs541780868
Chromosome Location	chr2:134323136-134323137
allele	C/T
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	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
2	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
3	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
5	nsv516644	chr2:134301130-134391214	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv431713	chr2:134316522-134413604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134290800-134324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:134310400-134324000	Weak transcription	NHEK	skin
3	chr2:134312000-134323600	Weak transcription	NH-A	brain
4	chr2:134315600-134323600	Weak transcription	NHLF	lung
5	chr2:134315600-134324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:134315800-134324000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:134315800-134324400	Weak transcription	Fetal Brain Male	brain
8	chr2:134316000-134323400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:134318600-134323200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:134319200-134324200	Weak transcription	Hela-S3	cervix
11	chr2:134319400-134324200	Weak transcription	Stomach Mucosa	stomach
12	chr2:134320000-134325600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:134320200-134324000	Weak transcription	Fetal Lung	lung
14	chr2:134320400-134323600	Weak transcription	Fetal Stomach	stomach
15	chr2:134320800-134324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:134322000-134324400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:134322000-134324800	Enhancers	Brain Hippocampus Middle	brain
18	chr2:134322200-134324000	Enhancers	Brain Germinal Matrix	brain
19	chr2:134322200-134325000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:134322400-134323200	Enhancers	Right Ventricle	heart
21	chr2:134322400-134324400	Enhancers	Liver	Liver
22	chr2:134322400-134325800	Weak transcription	Esophagus	oesophagus
23	chr2:134322600-134323200	Enhancers	Brain Anterior Caudate	brain
24	chr2:134322600-134323200	Weak transcription	NHDF-Ad	bronchial
25	chr2:134322600-134323400	Weak transcription	Left Ventricle	heart
26	chr2:134322600-134324400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:134322600-134325600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:134322800-134323600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:134322800-134324600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:134322800-134324600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:134323000-134323200	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:134323000-134323400	Weak transcription	Brain Substantia Nigra	brain
33	chr2:134323000-134323800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:134323000-134324000	Weak transcription	Fetal Intestine Large	intestine
35	chr2:134323000-134324200	Weak transcription	Fetal Heart	heart
36	chr2:134323000-134324400	Enhancers	Fetal Muscle Leg	muscle

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