Variant report

Variant	rs73151459
Chromosome Location	chr5:98111683-98111684
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	MYC	chr5:98111568-98112323	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr5:98111573-98112318	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFK	chr5:98111647-98112475	IMR90	lung:	n/a	chr5:98112337-98112352 chr5:98112338-98112349 chr5:98111723-98111733 chr5:98112337-98112348 chr5:98112338-98112349 chr5:98112336-98112350 chr5:98112337-98112348 chr5:98112337-98112353
4	POLR2A	chr5:98103782-98112496	IMR90	lung:	n/a	n/a
5	POLR2A	chr5:98111652-98111920	ProgFib	skin:	n/a	n/a
6	MXI1	chr5:98107889-98112517	IMR90	lung:	n/a	n/a
7	FOS	chr5:98111585-98112363	MCF10A-Er-Src	breast:	n/a	n/a
8	CHD1	chr5:98103004-98112580	IMR90	lung:	n/a	chr5:98110353-98110363 chr5:98104638-98104648
9	POLR2A	chr5:98109979-98112498	SK-N-SH	brain:	n/a	n/a
10	MXI1	chr5:98107942-98112468	SK-N-SH	brain:	n/a	n/a
11	MYC	chr5:98111065-98112360	MCF10A-Er-Src	breast:	n/a	chr5:98111330-98111339
12	FOS	chr5:98111429-98112339	MCF10A-Er-Src	breast:	n/a	chr5:98111490-98111500
13	FOS	chr5:98111523-98112302	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:98111277..98112925-chr5:98127736..98129977,2	MCF-7	breast:
2	chr5:98103871..98107404-chr5:98108128..98112327,8	MCF-7	breast:

Variant related genes	Relation type
RGMB-AS1	TF binding region
RGMB	TF binding region
ENSG00000174136	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11954623	1.00[AMR][1000 genomes]
rs11957518	1.00[AMR][1000 genomes]
rs1508794	1.00[AMR][1000 genomes]
rs1508795	1.00[AMR][1000 genomes]
rs17166354	1.00[AMR][1000 genomes]
rs17166367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17166368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2035229	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2036691	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3952932	1.00[AMR][1000 genomes]
rs55660533	1.00[AMR][1000 genomes]
rs57293752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58710516	1.00[AMR][1000 genomes]
rs6890688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6895731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73151405	1.00[AMR][1000 genomes]
rs73151407	1.00[AMR][1000 genomes]
rs73151426	1.00[AMR][1000 genomes]
rs73151428	1.00[AMR][1000 genomes]
rs73151441	1.00[AMR][1000 genomes]
rs73151444	1.00[AMR][1000 genomes]
rs73151454	1.00[AMR][1000 genomes]
rs73151463	1.00[AMR][1000 genomes]
rs73151464	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73151473	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73153510	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7707936	1.00[AMR][1000 genomes]
rs906681	1.00[AMR][1000 genomes]

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	chr5:98103800-98112600	Active TSS	Rectal Smooth Muscle	rectum
2	chr5:98104000-98113400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:98108200-98112200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:98108200-98112400	Active TSS	Colonic Mucosa	Colon
5	chr5:98108400-98111800	Active TSS	Pancreas	Pancrea
6	chr5:98108400-98112200	Active TSS	Ovary	ovary
7	chr5:98108400-98112400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr5:98108800-98113000	Active TSS	NH-A	brain
9	chr5:98108800-98113000	Active TSS	NHEK	skin
10	chr5:98108800-98113800	Active TSS	Stomach Smooth Muscle	stomach
11	chr5:98109200-98113200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr5:98109400-98112400	Transcr. at gene 5' and 3'	NHLF	lung
13	chr5:98109400-98113400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:98109400-98113800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:98109600-98119200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:98109800-98112400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:98109800-98114600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
18	chr5:98110200-98125200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
19	chr5:98110400-98111800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr5:98110400-98112400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:98110400-98112600	Flanking Active TSS	Fetal Brain Female	brain
22	chr5:98110400-98113400	Transcr. at gene 5' and 3'	Osteobl	bone
23	chr5:98110400-98119200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:98110600-98111800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr5:98110600-98111800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
26	chr5:98110600-98111800	Flanking Active TSS	Fetal Lung	lung
27	chr5:98110600-98112000	Transcr. at gene 5' and 3'	HSMM	muscle
28	chr5:98110600-98112200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr5:98110600-98112400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:98110600-98113600	Active TSS	Fetal Intestine Small	intestine
31	chr5:98110600-98115200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:98110800-98111800	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr5:98110800-98111800	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr5:98110800-98111800	Flanking Active TSS	Fetal Heart	heart
35	chr5:98110800-98112000	Enhancers	Primary B cells from peripheral blood	blood
36	chr5:98110800-98112000	Flanking Active TSS	Fetal Brain Male	brain
37	chr5:98110800-98112400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:98110800-98112400	Flanking Active TSS	HUVEC	blood vessel
39	chr5:98110800-98113400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:98110800-98113400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr5:98110800-98115200	Weak transcription	Lung	lung
42	chr5:98110800-98118600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:98110800-98123200	Weak transcription	Aorta	Aorta
44	chr5:98111000-98111800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr5:98111000-98111800	Bivalent Enhancer	Primary T cells from cord blood	blood
46	chr5:98111000-98111800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr5:98111000-98111800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:98111000-98111800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr5:98111000-98112000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
50	chr5:98111000-98112000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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