Variant report

Variant	rs73125255
Chromosome Location	chr5:74349614-74349615
allele	C/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	CTCF	chr5:74349560-74349710	GM06990	blood:	n/a	n/a
2	POLR2A	chr5:74349404-74349780	MCF-7	breast:	n/a	n/a
3	MAX	chr5:74348934-74349828	HepG2	liver:	n/a	chr5:74349168-74349178 chr5:74349342-74349352 chr5:74349317-74349326
4	TAF1	chr5:74348875-74350581	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr5:74349468-74349643	MCF-7	breast:	n/a	n/a
6	CTCF	chr5:74349500-74349650	HBMEC	blood vessel:	n/a	n/a
7	POLR2A	chr5:74349316-74349977	ProgFib	skin:	n/a	n/a
8	GTF2F1	chr5:74349452-74350465	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr5:74349517-74349654	GM19239	blood:	n/a	n/a
10	CTCF	chr5:74349031-74349657	MCF-7	breast:	n/a	chr5:74349084-74349097 chr5:74349166-74349179
11	POLR2A	chr5:74349265-74350092	IMR90	lung:	n/a	n/a
12	CTCF	chr5:74349520-74349670	BJ	skin:	n/a	n/a
13	POLR2A	chr5:74349498-74349872	Gliobla	brain:	n/a	n/a
14	CTCF	chr5:74349520-74349670	AG09319	gingival:	n/a	n/a
15	TBP	chr5:74349194-74350559	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:74349412-74349659	A549	lung:	n/a	n/a
17	POLR2A	chr5:74349515-74349683	A549	lung:	n/a	n/a
18	POLR2A	chr5:74349233-74350506	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr5:74349511-74349618	GM19238	blood:	n/a	n/a
20	CTCF	chr5:74349480-74349630	HepG2	liver:	n/a	n/a
21	CTCF	chr5:74349500-74349650	SK-N-SH_RA	brain:	n/a	n/a
22	CREB1	chr5:74349380-74349941	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr5:74349480-74349630	HMEC	breast:	n/a	n/a
24	MAX	chr5:74349546-74350495	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr5:74349347-74349703	HepG2	liver:	n/a	n/a
26	POLR2A	chr5:74348201-74349803	MCF10A-Er-Src	breast:	n/a	n/a
27	TCF7L2	chr5:74349163-74350312	PANC-1	pancreas:	n/a	n/a
28	CTCF	chr5:74348983-74349706	IMR90	lung:	n/a	chr5:74349084-74349097 chr5:74348985-74348998 chr5:74349166-74349179 chr5:74348986-74348999
29	CTCF	chr5:74349520-74349670	AG10803	skin:	n/a	n/a
30	CTCF	chr5:74349480-74349630	HCT-116	colon:	n/a	n/a
31	RAD21	chr5:74349372-74349738	HepG2	liver:	n/a	n/a
32	RCOR1	chr5:74349540-74349646	HepG2	liver:	n/a	n/a
33	RAD21	chr5:74349088-74349816	H1-hESC	embryonic stem cell:	n/a	chr5:74349102-74349116 chr5:74349338-74349347
34	HA-E2F1	chr5:74348422-74350010	MCF-7	breast:	n/a	chr5:74349216-74349223 chr5:74348925-74348934 chr5:74348992-74349002 chr5:74348929-74348938 chr5:74349212-74349224 chr5:74348773-74348787 chr5:74349216-74349223 chr5:74348770-74348784 chr5:74349215-74349224 chr5:74348828-74348837 chr5:74348825-74348835 chr5:74349213-74349227 chr5:74349216-74349223 chr5:74348824-74348834
35	CREB1	chr5:74349300-74350258	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr5:74349491-74349639	GM19240	blood:	n/a	n/a
37	POLR2A	chr5:74349465-74350678	SK-N-MC	brain:	n/a	n/a
38	CTCF	chr5:74349480-74349630	HAc	cerebellar:	n/a	n/a
39	MAX	chr5:74348107-74350140	A549	lung:	n/a	chr5:74349168-74349178 chr5:74349342-74349352 chr5:74349317-74349326
40	ZNF263	chr5:74348697-74350032	HEK293-T-REx	kidney:	n/a	n/a
41	CTCF	chr5:74349500-74349650	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr5:74349513-74349618	A549	lung:	n/a	n/a
43	CHD1	chr5:74347519-74350428	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr5:74349469-74349714	A549	lung:	n/a	n/a
45	CTCF	chr5:74349480-74349630	GM12867	blood:	n/a	n/a
46	POLR2A	chr5:74348902-74350505	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr5:74349480-74349630	NHEK	skin:	n/a	n/a
48	CTCF	chr5:74349069-74349673	MCF-7	breast:	n/a	chr5:74349084-74349097 chr5:74349166-74349179
49	POLR2A	chr5:74348269-74349771	MCF10A-Er-Src	breast:	n/a	n/a
50	CTCF	chr5:74349520-74349670	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74349473..74351177-chr5:74531614..74533984,2	MCF-7	breast:
2	chr5:74349068..74351249-chr5:74356524..74358401,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250889	TF binding region
ENSG00000145700	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73125254	0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription 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	8 gene(s)	inside rSNPs	diseases
2	esv1835096	chr5:74336883-74356857	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv598654	chr5:74345369-74351228	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv3421723	chr5:74346596-74351294	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	esv3439111	chr5:74348021-74350569	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv598669	chr5:74348841-74351228	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74346000-74350200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:74346400-74350400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:74347000-74350000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:74347000-74350000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:74347000-74350200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:74347000-74350800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr5:74347400-74349800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:74347400-74350000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:74347400-74350000	Active TSS	Brain Anterior Caudate	brain
10	chr5:74347400-74350200	Active TSS	Pancreas	Pancrea
11	chr5:74347400-74350200	Active TSS	Stomach Mucosa	stomach
12	chr5:74347400-74350200	Active TSS	NHDF-Ad	bronchial
13	chr5:74347400-74350400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr5:74347400-74350400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:74347400-74350400	Active TSS	Gastric	stomach
16	chr5:74347600-74349800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr5:74347600-74349800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:74347600-74349800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr5:74347600-74349800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:74347600-74349800	Active TSS	Fetal Thymus	thymus
21	chr5:74347600-74349800	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr5:74347600-74349800	Active TSS	Thymus	Thymus
23	chr5:74347600-74350000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:74347600-74350000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:74347600-74350000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:74347600-74350000	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr5:74347600-74350000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr5:74347600-74350000	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr5:74347600-74350000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:74347600-74350000	Active TSS	Fetal Intestine Small	intestine
31	chr5:74347600-74350200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:74347600-74350200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr5:74347600-74350200	Active TSS	Fetal Intestine Large	intestine
34	chr5:74347600-74350400	Active TSS	Aorta	Aorta
35	chr5:74347600-74350400	Active TSS	Colon Smooth Muscle	Colon
36	chr5:74347600-74350600	Active TSS	H9 Cell Line	embryonic stem cell
37	chr5:74347600-74350600	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr5:74347800-74349800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:74347800-74349800	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr5:74347800-74350000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr5:74347800-74350000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:74347800-74350000	Active TSS	NHLF	lung
43	chr5:74347800-74350200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:74347800-74350200	Active TSS	Brain Angular Gyrus	brain
45	chr5:74347800-74350200	Active TSS	Stomach Smooth Muscle	stomach
46	chr5:74347800-74350200	Active TSS	A549	lung
47	chr5:74348000-74349800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:74348000-74349800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:74348000-74349800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:74348000-74349800	Bivalent/Poised TSS	Fetal Brain Female	brain

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