Variant report

Variant	rs148248990
Chromosome Location	chr1:241992351-241992352
allele	A/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	CUX1	chr1:241992162-241992517	K562	blood:	n/a	n/a
2	TCF7L2	chr1:241991978-241992467	Hela-S3	cervix:	n/a	n/a
3	REST	chr1:241991839-241992533	H1-neurons	neurons:	n/a	n/a
4	REST	chr1:241991703-241992510	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr1:241991879-241992487	H1-neurons	neurons:	n/a	n/a
6	GATA2	chr1:241992101-241992434	SH-SY5Y	brain:	n/a	n/a
7	POLR2A	chr1:241991913-241992515	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000229022	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv528015	chr1:241865219-242070731	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	esv2762521	chr1:241891040-242074222	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv873373	chr1:241939069-242027500	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv873374	chr1:241975147-242097624	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv945406	chr1:241992115-241996420	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241989000-241992400	Enhancers	Fetal Brain Male	brain
2	chr1:241989600-241992600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:241990800-241992400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:241991600-241992400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:241991600-241992600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:241991800-241992400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:241991800-241992400	Enhancers	NHLF	lung
8	chr1:241991800-241992800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:241992000-241992400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:241992000-241992400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:241992000-241992400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:241992000-241992400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:241992000-241992400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:241992000-241992400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:241992000-241992400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:241992000-241992400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:241992000-241992400	Enhancers	Brain Germinal Matrix	brain
18	chr1:241992000-241992400	Flanking Active TSS	Fetal Heart	heart
19	chr1:241992000-241992400	Enhancers	Left Ventricle	heart
20	chr1:241992000-241992400	Enhancers	Lung	lung
21	chr1:241992000-241992400	Enhancers	Ovary	ovary
22	chr1:241992000-241992400	Enhancers	Rectal Smooth Muscle	rectum
23	chr1:241992000-241992400	Enhancers	Right Ventricle	heart
24	chr1:241992000-241992400	Flanking Active TSS	A549	lung
25	chr1:241992000-241992400	Enhancers	HSMM	muscle
26	chr1:241992000-241992400	Enhancers	NH-A	brain
27	chr1:241992000-241992400	Enhancers	NHDF-Ad	bronchial
28	chr1:241992000-241992400	Enhancers	NHEK	skin
29	chr1:241992000-241992400	Enhancers	Osteobl	bone
30	chr1:241992200-241992400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:241992200-241992400	Enhancers	Aorta	Aorta
32	chr1:241992200-241992400	Enhancers	HSMMtube	muscle
33	chr1:241992200-241992400	Enhancers	K562	blood

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