Variant report

Variant	rs73751287
Chromosome Location	chr5:42908814-42908815
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	chr5:42908648-42909398	K562	blood:	n/a	n/a
2	RAD21	chr5:42908678-42909411	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYBL2	chr5:42908712-42909252	HepG2	liver:	n/a	n/a
4	PML	chr5:42908704-42909330	GM12878	blood:	n/a	n/a
5	MTA3	chr5:42908539-42909442	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:42908699-42909221	MCF10A-Er-Src	breast:	n/a	n/a
7	CTCF	chr5:42908720-42908870	GM12873	blood:	n/a	n/a
8	MAX	chr5:42908777-42909306	Hela-S3	cervix:	n/a	n/a
9	RAD21	chr5:42908679-42909502	IMR90	lung:	n/a	n/a
10	RCOR1	chr5:42908679-42909352	K562	blood:	n/a	n/a
11	MAX	chr5:42908671-42909297	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZNF143	chr5:42908583-42909333	H1-hESC	embryonic stem cell:	n/a	n/a
13	NRF1	chr5:42908557-42909430	SK-N-SH	brain:	n/a	chr5:42908869-42908883 chr5:42909110-42909121
14	SMC3	chr5:42908586-42909478	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr5:42908696-42909459	A549	lung:	n/a	chr5:42909364-42909374 chr5:42909411-42909419
16	GTF2F1	chr5:42908729-42909328	K562	blood:	n/a	n/a
17	MAZ	chr5:42908653-42909394	K562	blood:	n/a	n/a
18	CTCF	chr5:42908756-42909668	SK-N-SH	brain:	n/a	n/a
19	MYC	chr5:42908740-42908823	HepG2	liver:	n/a	n/a
20	NRF1	chr5:42908746-42909303	K562	blood:	n/a	chr5:42908869-42908883 chr5:42909110-42909121
21	ZNF384	chr5:42908787-42909395	K562	blood:	n/a	n/a
22	NRF1	chr5:42908682-42909316	GM12878	blood:	n/a	chr5:42908869-42908883 chr5:42909110-42909121
23	CHD1	chr5:42908783-42909001	GM12878	blood:	n/a	n/a
24	JUND	chr5:42908782-42909371	K562	blood:	n/a	n/a
25	HCFC1	chr5:42908770-42909434	K562	blood:	n/a	n/a
26	CTCF	chr5:42908495-42909967	A549	lung:	n/a	n/a
27	FOXM1	chr5:42908746-42909438	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:42908718-42908913	MCF-7	breast:	n/a	n/a
29	MAX	chr5:42908688-42909394	A549	lung:	n/a	n/a
30	POLR2A	chr5:42908765-42908877	HepG2	liver:	n/a	n/a
31	NRF1	chr5:42908702-42909297	H1-hESC	embryonic stem cell:	n/a	chr5:42908869-42908883 chr5:42909110-42909121
32	ZNF143	chr5:42908711-42909389	GM12878	blood:	n/a	n/a
33	ZNF263	chr5:42908551-42909323	HEK293-T-REx	kidney:	n/a	n/a
34	E2F6	chr5:42908760-42908966	K562	blood:	n/a	n/a
35	MAX	chr5:42908588-42909356	K562	blood:	n/a	n/a
36	RAD21	chr5:42908788-42909520	SK-N-SH	brain:	n/a	n/a
37	CTCF	chr5:42908680-42908830	HPAF	blood vessel:	n/a	n/a
38	MAX	chr5:42908542-42909469	A549	lung:	n/a	n/a
39	RCOR1	chr5:42908760-42909340	K562	blood:	n/a	n/a
40	CTCF	chr5:42908700-42908850	GM12873	blood:	n/a	n/a
41	BHLHE40	chr5:42908734-42909349	K562	blood:	n/a	n/a
42	MAX	chr5:42908259-42909351	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:42907363..42912501-chr5:43064737..43069149,8	MCF-7	breast:
2	chr5:42908654..42910895-chr5:43006900..43010047,5	MCF-7	breast:
3	chr5:42907010..42910562-chr5:43064999..43067630,3	MCF-7	breast:
4	chr5:42907581..42909848-chr5:43040254..43042169,2	K562	blood:

Variant related genes	Relation type
ENSG00000251656	TF binding region
ENSG00000172262	Chromatin interaction
ENSG00000271788	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000215068	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs4082200	0.95[AFR][1000 genomes]
rs55991920	1.00[AFR][1000 genomes]
rs59185684	1.00[AFR][1000 genomes]
rs60120785	0.85[AFR][1000 genomes]
rs73751276	1.00[AFR][1000 genomes]
rs73751279	1.00[AFR][1000 genomes]
rs73751280	1.00[AFR][1000 genomes]
rs73751284	1.00[AFR][1000 genomes]
rs73751286	0.95[AFR][1000 genomes]
rs73751288	0.95[AFR][1000 genomes]
rs73751290	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
7	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
8	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv980936	chr5:42894375-42930741	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv968909	chr5:42903982-42953465	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv1806082	chr5:42906572-42967215	Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv1813779	chr5:42906572-42992040	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42908400-42909000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:42908400-42909000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr5:42908400-42909000	Flanking Bivalent TSS/Enh	NHEK	skin
4	chr5:42908400-42909200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr5:42908400-42909200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr5:42908400-42909200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr5:42908400-42909200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:42908400-42909200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:42908400-42909200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:42908400-42909200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:42908400-42909200	Flanking Active TSS	GM12878-XiMat	blood
12	chr5:42908400-42909200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr5:42908400-42909400	Flanking Active TSS	Liver	Liver
14	chr5:42908400-42909400	Active TSS	Brain Hippocampus Middle	brain
15	chr5:42908400-42909400	Flanking Active TSS	K562	blood
16	chr5:42908600-42909000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr5:42908600-42909000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:42908600-42909000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:42908600-42909000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:42908600-42909000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr5:42908600-42909000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:42908600-42909000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:42908600-42909000	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr5:42908600-42909000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr5:42908600-42909000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:42908600-42909000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:42908600-42909000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:42908600-42909000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:42908600-42909000	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr5:42908600-42909000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
31	chr5:42908600-42909000	Flanking Active TSS	Colon Smooth Muscle	Colon
32	chr5:42908600-42909000	Flanking Active TSS	Esophagus	oesophagus
33	chr5:42908600-42909000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
34	chr5:42908600-42909000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr5:42908600-42909000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
36	chr5:42908600-42909000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr5:42908600-42909000	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
38	chr5:42908600-42909000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr5:42908600-42909000	Flanking Active TSS	Spleen	Spleen
40	chr5:42908600-42909000	Flanking Bivalent TSS/Enh	Dnd41	blood
41	chr5:42908600-42909000	Flanking Bivalent TSS/Enh	Hela-S3	cervix
42	chr5:42908600-42909000	Flanking Active TSS	HepG2	liver
43	chr5:42908600-42909000	Flanking Active TSS	HSMM	muscle
44	chr5:42908600-42909000	Flanking Active TSS	HSMMtube	muscle
45	chr5:42908600-42909200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr5:42908600-42909200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr5:42908600-42909200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:42908600-42909200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:42908600-42909200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:42908600-42909200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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