Variant report

Variant	rs530130613
Chromosome Location	chr1:103575301-103575302
allele	G/T
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	NFIC	chr1:103574958-103575614	SK-N-SH	brain:	n/a	n/a
3	PBX3	chr1:103575077-103575579	SK-N-SH	brain:	n/a	n/a
4	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:43 , 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	chr1:103574200-103575400	Active TSS	Brain Germinal Matrix	brain
4	chr1:103574600-103575400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:103574600-103575400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr1:103574600-103575400	Enhancers	Brain Substantia Nigra	brain
7	chr1:103574600-103575600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:103574600-103575800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:103574600-103576400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:103574600-103577600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:103574600-103577800	Weak transcription	HSMMtube	muscle
12	chr1:103574600-103578400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:103574800-103575400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:103574800-103575400	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:103574800-103575400	Enhancers	Fetal Heart	heart
16	chr1:103574800-103575400	Enhancers	NH-A	brain
17	chr1:103574800-103575600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:103574800-103575600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:103574800-103575800	Enhancers	Brain Hippocampus Middle	brain
20	chr1:103574800-103576800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:103575000-103575400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:103575000-103575400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:103575000-103575600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:103575000-103575600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:103575000-103575600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:103575000-103575800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:103575000-103576400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:103575000-103576400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:103575000-103576400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:103575000-103576800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:103575200-103575400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:103575200-103576200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:103575200-103576400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr1:103575200-103576400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr1:103575200-103576800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:103575200-103577600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:103575200-103577600	Weak transcription	NHEK	skin
38	chr1:103575200-103577600	Weak transcription	Osteobl	bone
39	chr1:103575200-103577800	Weak transcription	A549	lung
40	chr1:103575200-103578200	Enhancers	Hela-S3	cervix
41	chr1:103575200-103578400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:103575200-103578600	Enhancers	HSMM	muscle
43	chr1:103575200-103579600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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