Variant report

Variant	rs188308316
Chromosome Location	chr5:43043602-43043603
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	CTCF	chr5:43043164-43043644	MCF-7	breast:	n/a	n/a
2	PML	chr5:43039608-43043658	K562	blood:	n/a	n/a
3	POLR2A	chr5:43041496-43043636	GM12892	blood:	n/a	n/a
4	YY1	chr5:43043145-43043627	GM12878	blood:	n/a	n/a
5	SIN3AK20	chr5:43042950-43043647	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr5:43039510-43043640	K562	blood:	n/a	n/a
7	POLR2A	chr5:43039532-43043686	PBDE	blood:	n/a	n/a
8	E2F6	chr5:43041629-43043704	A549	lung:	n/a	chr5:43042146-43042154 chr5:43042147-43042154 chr5:43042147-43042154 chr5:43042146-43042155 chr5:43042146-43042154 chr5:43042147-43042154
9	NR2F2	chr5:43042318-43043774	K562	blood:	n/a	n/a
10	TEAD4	chr5:43041373-43043661	K562	blood:	n/a	n/a
11	MAX	chr5:43041632-43043673	SK-N-SH	brain:	n/a	n/a
12	CHD1	chr5:43041913-43043636	GM12878	blood:	n/a	n/a
13	TBP	chr5:43039536-43043625	K562	blood:	n/a	n/a
14	POLR2A	chr5:43043124-43043632	MCF-7	breast:	n/a	n/a
15	REST	chr5:43042468-43043621	A549	lung:	n/a	n/a
16	GABPA	chr5:43043089-43043691	K562	blood:	n/a	n/a
17	SIN3AK20	chr5:43042293-43043652	MCF-7	breast:	n/a	n/a
18	RCOR1	chr5:43041442-43043768	K562	blood:	n/a	n/a
19	TAL1	chr5:43042610-43043615	K562	blood:	n/a	n/a
20	POLR2A	chr5:43041602-43043612	GM12892	blood:	n/a	n/a
21	POLR2A	chr5:43041359-43043602	MCF10A-Er-Src	breast:	n/a	n/a
22	SUZ12	chr5:43041471-43043640	H1-hESC	embryonic stem cell:	n/a	n/a
23	E2F6	chr5:43041538-43043683	K562	blood:	n/a	chr5:43042146-43042154 chr5:43042147-43042154 chr5:43042147-43042154 chr5:43042146-43042155 chr5:43042146-43042154 chr5:43042147-43042154
24	SP1	chr5:43042079-43043724	A549	lung:	n/a	n/a
25	EBF1	chr5:43042929-43043665	GM12878	blood:	n/a	n/a
26	CREB1	chr5:43042779-43043626	A549	lung:	n/a	n/a
27	CTCF	chr5:43043520-43043670	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr5:43039223-43043731	A549	lung:	n/a	chr5:43041427-43041435
29	ELF1	chr5:43043206-43043712	K562	blood:	n/a	n/a
30	NFATC1	chr5:43043048-43043604	GM12878	blood:	n/a	n/a
31	RELA	chr5:43041588-43043692	GM19099	blood:	n/a	chr5:43042093-43042102 chr5:43042093-43042102
32	ZMIZ1	chr5:43041681-43043645	K562	blood:	n/a	n/a
33	POLR2A	chr5:43041429-43043684	K562	blood:	n/a	n/a
34	RUNX3	chr5:43041477-43043698	GM12878	blood:	n/a	n/a
35	MAX	chr5:43039378-43043696	A549	lung:	n/a	n/a
36	ELF1	chr5:43041797-43043707	GM12878	blood:	n/a	chr5:43042178-43042187
37	POLR2A	chr5:43041461-43043672	K562	blood:	n/a	n/a
38	POLR2A	chr5:43040102-43043638	Hela-S3	cervix:	n/a	n/a
39	MXI1	chr5:43039474-43043610	GM12878	blood:	n/a	n/a
40	WRNIP1	chr5:43042526-43043616	GM12878	blood:	n/a	n/a
41	GATA1	chr5:43039442-43043690	PBDE	blood:	n/a	chr5:43040589-43040598
42	POLR2A	chr5:43041362-43043715	HL-60	blood:	n/a	n/a
43	E2F6	chr5:43041827-43043625	Hela-S3	cervix:	n/a	chr5:43042146-43042154 chr5:43042147-43042154 chr5:43042147-43042154 chr5:43042146-43042155 chr5:43042146-43042154 chr5:43042147-43042154
44	EP300	chr5:43042522-43043614	A549	lung:	n/a	n/a
45	E2F6	chr5:43041849-43043663	K562	blood:	n/a	chr5:43042146-43042154 chr5:43042147-43042154 chr5:43042147-43042154 chr5:43042146-43042155 chr5:43042146-43042154 chr5:43042147-43042154
46	POU2F2	chr5:43043108-43043604	GM12891	blood:	n/a	n/a
47	MAX	chr5:43039477-43043620	NB4	blood:	n/a	n/a
48	CTCF	chr5:43043534-43043606	GM13976	blood:	n/a	n/a
49	USF2	chr5:43043339-43043617	Hela-S3	cervix:	n/a	n/a
50	BCLAF1	chr5:43041592-43043675	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:145438010..145439003-chr5:43043227..43043821,2	NB4	blood:
2	chr5:43005892..43011349-chr5:43037590..43043804,20	K562	blood:
3	chr5:43016691..43021968-chr5:43036071..43044426,17	MCF-7	breast:
4	chr5:43014739..43026335-chr5:43034830..43045515,33	MCF-7	breast:
5	chr5:43007547..43009866-chr5:43041551..43043821,3	MCF-7	breast:
6	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:
7	chr5:43036901..43050217-chr5:43060442..43069391,53	MCF-7	breast:
8	chr5:43040123..43044169-chr5:43120216..43122879,6	K562	blood:
9	chr5:43037720..43044659-chr5:43062293..43069444,31	K562	blood:
10	chr5:43041491..43043698-chr5:43120008..43122438,3	MCF-7	breast:
11	chr5:43038662..43048059-chr5:43059399..43070773,40	MCF-7	breast:
12	chr5:43040708..43045055-chr5:43119670..43122847,6	K562	blood:
13	chr5:43041481..43043742-chr5:43120386..43122867,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF131-1	chr5:43043574-43043669	ENSG00000215068

Variant related genes	Relation type
ANXA2R	TF binding region
ENSG00000272144	Chromatin interaction
ENSG00000117289	Chromatin interaction
ENSG00000271788	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000251131	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
5	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
6	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
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
9	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	esv3357318	chr5:43042995-43045168	Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43036800-43043800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:43037400-43045000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:43039000-43043800	Active TSS	Thymus	Thymus
4	chr5:43039000-43043800	Active TSS	NHDF-Ad	bronchial
5	chr5:43039400-43043800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:43039400-43044800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:43039600-43043800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
8	chr5:43039800-43043800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr5:43039800-43044400	Active TSS	NHLF	lung
10	chr5:43039800-43044800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:43040000-43045000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:43040400-43043800	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr5:43040400-43045000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:43040800-43043800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:43041000-43043800	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr5:43041400-43043800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr5:43041600-43043800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr5:43041800-43043800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:43041800-43043800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:43041800-43044400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:43042000-43044200	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr5:43042200-43044400	Active TSS	Brain Anterior Caudate	brain
23	chr5:43043000-43043800	Active TSS	Primary T cells from cord blood	blood
24	chr5:43043200-43043800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr5:43043200-43043800	Active TSS	Monocytes-CD14+_RO01746	blood
26	chr5:43043200-43044400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:43043200-43044400	Active TSS	Osteobl	bone
28	chr5:43043400-43043800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr5:43043400-43043800	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr5:43043400-43043800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr5:43043400-43043800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:43043400-43044400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:43043600-43043800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr5:43043600-43043800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:43043600-43043800	Active TSS	Primary B cells from cord blood	blood
36	chr5:43043600-43043800	Active TSS	Primary B cells from peripheral blood	blood
37	chr5:43043600-43043800	Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr5:43043600-43043800	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr5:43043600-43043800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:43043600-43043800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
41	chr5:43043600-43043800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:43043600-43043800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:43043600-43043800	Active TSS	Liver	Liver
44	chr5:43043600-43043800	Active TSS	Duodenum Mucosa	Duodenum
45	chr5:43043600-43043800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr5:43043600-43043800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
47	chr5:43043600-43043800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
48	chr5:43043600-43043800	Active TSS	Placenta	Placenta
49	chr5:43043600-43043800	Bivalent/Poised TSS	Fetal Thymus	thymus
50	chr5:43043600-43043800	Active TSS	Rectal Mucosa Donor 29	rectum

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