Variant report

Variant	rs371594560
Chromosome Location	chr1:78353602-78353603
allele	C/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	POLR2A	chr1:78353587-78354949	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FUBP1-1	chr1:78353285-78354953	ENSG00000235927

Variant related genes	Relation type
NEXN-AS1	TF binding region
NEXN	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv2329300	chr1:78353435-78353852	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78299600-78353800	Weak transcription	Brain Substantia Nigra	brain
2	chr1:78324600-78353800	Weak transcription	Esophagus	oesophagus
3	chr1:78327400-78353800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:78333400-78353800	Weak transcription	Lung	lung
5	chr1:78333600-78354000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:78333800-78353800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:78334400-78353800	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:78334400-78353800	Weak transcription	Fetal Kidney	kidney
9	chr1:78334600-78353800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:78334600-78353800	Weak transcription	Placenta	Placenta
11	chr1:78334600-78353800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:78340800-78353800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:78341000-78353800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:78341200-78353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:78341200-78353800	Weak transcription	Fetal Intestine Large	intestine
16	chr1:78341200-78353800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr1:78341400-78353800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:78346200-78354000	Weak transcription	Spleen	Spleen
19	chr1:78346800-78353800	Weak transcription	Primary T cells from cord blood	blood
20	chr1:78350600-78353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:78352400-78353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:78352400-78359800	Active TSS	Right Ventricle	heart
23	chr1:78352800-78353800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:78353000-78353800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr1:78353000-78354000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:78353000-78354200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr1:78353200-78353800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:78353200-78353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:78353200-78353800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:78353200-78353800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:78353200-78353800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr1:78353200-78353800	Weak transcription	Aorta	Aorta
33	chr1:78353200-78353800	Enhancers	HSMMtube	muscle
34	chr1:78353200-78353800	Enhancers	NHDF-Ad	bronchial
35	chr1:78353200-78354000	Flanking Active TSS	NH-A	brain
36	chr1:78353200-78354000	Flanking Active TSS	Osteobl	bone
37	chr1:78353200-78355600	Active TSS	Left Ventricle	heart
38	chr1:78353200-78355800	Active TSS	Psoas Muscle	Psoas
39	chr1:78353200-78357200	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr1:78353200-78359200	Active TSS	Right Atrium	heart
41	chr1:78353400-78353800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:78353400-78353800	Weak transcription	Brain Anterior Caudate	brain
43	chr1:78353400-78353800	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr1:78353400-78356000	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr1:78353400-78356400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:78353400-78356400	Active TSS	HSMM	muscle
47	chr1:78353400-78357000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:78353400-78357000	Active TSS	NHLF	lung
49	chr1:78353600-78353800	Active TSS	H1 Cell Line	embryonic stem cell
50	chr1:78353600-78353800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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