Variant report

Variant	rs529853479
Chromosome Location	chr3:48613416-48613417
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	chr3:48612515-48615333	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr3:48612905-48615380	A549	lung:	n/a	n/a

Variant related genes	Relation type
COL7A1	TF binding region

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	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1004383	chr3:48543794-48649772	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv3811	chr3:48599180-48643809	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	esv3374476	chr3:48612748-48617046	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48596600-48626000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:48598600-48624000	Weak transcription	Aorta	Aorta
3	chr3:48598800-48615000	Weak transcription	Pancreas	Pancrea
4	chr3:48598800-48617200	Weak transcription	Brain Germinal Matrix	brain
5	chr3:48599000-48614800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:48599000-48623600	Weak transcription	Ovary	ovary
7	chr3:48599000-48632000	Weak transcription	Left Ventricle	heart
8	chr3:48599200-48616800	Weak transcription	Fetal Heart	heart
9	chr3:48599200-48630600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:48600600-48631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:48601000-48631000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:48601200-48616800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:48601400-48614400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:48601600-48631000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:48601800-48613600	Weak transcription	Brain Anterior Caudate	brain
16	chr3:48601800-48614200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:48601800-48614600	Weak transcription	Brain Substantia Nigra	brain
18	chr3:48601800-48614800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:48601800-48617000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:48601800-48633000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:48602000-48614400	Weak transcription	Spleen	Spleen
22	chr3:48602000-48614600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:48602000-48619400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:48602000-48629400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:48602000-48633200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:48602200-48629400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:48602400-48621400	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:48603600-48630000	Strong transcription	Fetal Stomach	stomach
29	chr3:48603800-48628800	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr3:48603800-48630600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:48603800-48631800	Weak transcription	Gastric	stomach
32	chr3:48604000-48614000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:48604000-48614600	Weak transcription	Osteobl	bone
34	chr3:48604000-48623800	Weak transcription	Fetal Muscle Leg	muscle
35	chr3:48604000-48629400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:48604000-48631600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:48604000-48632000	Weak transcription	HSMMtube	muscle
38	chr3:48604200-48614600	Weak transcription	NHDF-Ad	bronchial
39	chr3:48604200-48621600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:48604400-48630000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:48604400-48631600	Weak transcription	HSMM	muscle
42	chr3:48604600-48630800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:48605000-48627400	Strong transcription	NHEK	skin
44	chr3:48606200-48627600	Strong transcription	HMEC	breast
45	chr3:48606600-48614600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:48606800-48627000	Strong transcription	A549	lung
47	chr3:48607400-48623800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:48607600-48622200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:48608000-48619800	Strong transcription	NH-A	brain
50	chr3:48609400-48614600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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