Variant report

Variant	rs538451004
Chromosome Location	chr5:98107821-98107822
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	MAZ	chr5:98103628-98107877	IMR90	lung:	n/a	chr5:98104887-98104896 chr5:98104605-98104615
2	CTCF	chr5:98106325-98108512	SK-N-SH	brain:	n/a	chr5:98108010-98108017
3	POLR2A	chr5:98103782-98112496	IMR90	lung:	n/a	n/a
4	POLR2A	chr5:98107747-98110006	U87	brain:	n/a	n/a
5	ZNF143	chr5:98107242-98107841	K562	blood:	n/a	n/a
6	CHD1	chr5:98103004-98112580	IMR90	lung:	n/a	chr5:98110353-98110363 chr5:98104638-98104648
7	POLR2A	chr5:98107741-98110666	U87	brain:	n/a	n/a
8	E2F4	chr5:98106994-98108308	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:98102131..98106489-chr5:98107320..98111501,11	MCF-7	breast:
2	chr17:59476329..59477978-chr5:98107765..98110191,2	MCF-7	breast:
3	chr5:98102950..98105852-chr5:98106707..98108223,2	K562	blood:

Variant related genes	Relation type
RGMB	TF binding region
ENSG00000121068	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000174136	Chromatin interaction
ENSG00000267280	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882414	chr5:98063710-98193164	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3339628	chr5:98107452-98111750	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98103800-98108000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:98103800-98108000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr5:98103800-98108200	Active TSS	Fetal Kidney	kidney
4	chr5:98103800-98112600	Active TSS	Rectal Smooth Muscle	rectum
5	chr5:98104000-98108200	Active TSS	Fetal Intestine Large	intestine
6	chr5:98104000-98111400	Active TSS	Psoas Muscle	Psoas
7	chr5:98104000-98113400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:98104200-98108000	Active TSS	Brain Hippocampus Middle	brain
9	chr5:98104200-98111600	Active TSS	Right Atrium	heart
10	chr5:98104400-98108000	Active TSS	Muscle Satellite Cultured Cells	--
11	chr5:98104400-98108200	Active TSS	Fetal Intestine Small	intestine
12	chr5:98104400-98109800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:98104400-98110800	Active TSS	HSMMtube	muscle
14	chr5:98104600-98108000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr5:98104600-98108200	Active TSS	Stomach Smooth Muscle	stomach
16	chr5:98104600-98108600	Active TSS	Fetal Stomach	stomach
17	chr5:98105200-98109400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:98105800-98108000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr5:98106000-98108800	Weak transcription	Spleen	Spleen
20	chr5:98106200-98108000	Active TSS	Fetal Muscle Leg	muscle
21	chr5:98106400-98108600	Active TSS	Fetal Muscle Trunk	muscle
22	chr5:98106400-98108800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:98106400-98108800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:98106400-98108800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
25	chr5:98106400-98109400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:98106600-98108800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:98106600-98108800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:98107000-98108400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr5:98107000-98108400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr5:98107200-98108000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:98107200-98108200	Weak transcription	Gastric	stomach
32	chr5:98107200-98108400	Weak transcription	Esophagus	oesophagus
33	chr5:98107200-98108600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:98107200-98108600	Weak transcription	Small Intestine	intestine
35	chr5:98107400-98108000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:98107400-98108000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr5:98107400-98108000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:98107400-98108000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:98107400-98108000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:98107400-98108000	Enhancers	Colon Smooth Muscle	Colon
41	chr5:98107400-98108000	Weak transcription	Fetal Brain Female	brain
42	chr5:98107400-98108000	Weak transcription	Right Ventricle	heart
43	chr5:98107400-98108000	Enhancers	Stomach Mucosa	stomach
44	chr5:98107400-98108000	Enhancers	A549	lung
45	chr5:98107400-98108000	Enhancers	HMEC	breast
46	chr5:98107400-98108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:98107400-98108200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:98107400-98108200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
49	chr5:98107400-98108200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr5:98107400-98108200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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