Variant report

Variant	rs548634154
Chromosome Location	chr1:103575412-103575413
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:103575083-103575908	SK-N-SH	brain:	n/a	chr1:103575494-103575501
2	MAFK	chr1:103575354-103575616	HepG2	liver:	n/a	chr1:103575465-103575481
3	MAFF	chr1:103575322-103575549	HepG2	liver:	n/a	chr1:103575464-103575482
4	NFIC	chr1:103574958-103575614	SK-N-SH	brain:	n/a	n/a
5	PBX3	chr1:103575077-103575579	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr1:103575144-103575795	SK-N-SH	brain:	n/a	chr1:103575494-103575501

Variant related genes	Relation type
COL11A1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830893	chr1:103458498-103635579	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103571800-103575600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr1:103573600-103576200	Weak transcription	HMEC	breast
3	chr1:103574600-103575600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:103574600-103575800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:103574600-103576400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:103574600-103577600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:103574600-103577800	Weak transcription	HSMMtube	muscle
8	chr1:103574600-103578400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:103574800-103575600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:103574800-103575600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:103574800-103575800	Enhancers	Brain Hippocampus Middle	brain
12	chr1:103574800-103576800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:103575000-103575600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:103575000-103575600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:103575000-103575600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:103575000-103575800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:103575000-103576400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:103575000-103576400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr1:103575000-103576400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:103575000-103576800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:103575200-103576200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:103575200-103576400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:103575200-103576400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:103575200-103576800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:103575200-103577600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:103575200-103577600	Weak transcription	NHEK	skin
27	chr1:103575200-103577600	Weak transcription	Osteobl	bone
28	chr1:103575200-103577800	Weak transcription	A549	lung
29	chr1:103575200-103578200	Enhancers	Hela-S3	cervix
30	chr1:103575200-103578400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:103575200-103578600	Enhancers	HSMM	muscle
32	chr1:103575200-103579600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:103575400-103576000	Enhancers	Brain Germinal Matrix	brain
34	chr1:103575400-103576200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:103575400-103576200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:103575400-103576600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:103575400-103576600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:103575400-103576600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:103575400-103576800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:103575400-103577600	Weak transcription	NH-A	brain

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