Variant report

Variant	rs578158374
Chromosome Location	chr5:80255720-80255721
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	BCL3	chr5:80255146-80256092	GM12878	blood:	n/a	n/a
2	RAD21	chr5:80255664-80255933	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF263	chr5:80255355-80257413	HEK293-T-REx	kidney:	n/a	chr5:80256995-80257016
4	POLR2A	chr5:80255620-80256082	H1-neurons	neurons:	n/a	n/a
5	PBX3	chr5:80255506-80255933	GM12878	blood:	n/a	n/a
6	MAX	chr5:80255684-80257042	H1-hESC	embryonic stem cell:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
7	MAX	chr5:80255651-80256211	H1-hESC	embryonic stem cell:	n/a	chr5:80256133-80256142
8	MAX	chr5:80255669-80257408	HepG2	liver:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
9	POLR2A	chr5:80255661-80257284	HepG2	liver:	n/a	n/a
10	CREB1	chr5:80255584-80257085	HepG2	liver:	n/a	n/a
11	BCL3	chr5:80255488-80255974	GM12878	blood:	n/a	n/a
12	BACH1	chr5:80255588-80256100	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr5:80255663-80257435	HepG2	liver:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
14	NFATC1	chr5:80255616-80255997	GM12878	blood:	n/a	n/a
15	NFATC1	chr5:80255306-80255937	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:80255440-80257187	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RASGRF2	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3322696	chr5:80255021-80257569	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3330937	chr5:80255346-80257994	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv15582	chr5:80255351-80256937	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3359411	chr5:80255421-80257969	Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80251600-80255800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:80253200-80256000	Bivalent Enhancer	Fetal Thymus	thymus
3	chr5:80253400-80255800	Enhancers	Dnd41	blood
4	chr5:80255000-80255800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
5	chr5:80255000-80256000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
6	chr5:80255000-80256000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
7	chr5:80255200-80255800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
8	chr5:80255200-80255800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
9	chr5:80255200-80255800	Bivalent Enhancer	Thymus	Thymus
10	chr5:80255200-80256000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
11	chr5:80255200-80256000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:80255200-80256000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
13	chr5:80255200-80256000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:80255200-80256000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr5:80255200-80256600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
16	chr5:80255400-80255800	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
17	chr5:80255400-80255800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:80255400-80255800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr5:80255400-80255800	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr5:80255400-80255800	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr5:80255400-80255800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
22	chr5:80255400-80255800	Bivalent Enhancer	Spleen	Spleen
23	chr5:80255400-80256000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
24	chr5:80255400-80256000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
25	chr5:80255400-80256000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr5:80255400-80256000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr5:80255400-80256000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:80255400-80256000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr5:80255400-80256000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
30	chr5:80255400-80256000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr5:80255400-80256000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:80255400-80256000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr5:80255400-80256000	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
34	chr5:80255400-80257400	Active TSS	Colon Smooth Muscle	Colon
35	chr5:80255600-80255800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
36	chr5:80255600-80255800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr5:80255600-80255800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:80255600-80255800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:80255600-80255800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:80255600-80255800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:80255600-80255800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr5:80255600-80255800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr5:80255600-80255800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
44	chr5:80255600-80255800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr5:80255600-80255800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:80255600-80255800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:80255600-80255800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:80255600-80255800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:80255600-80255800	Bivalent Enhancer	Liver	Liver
50	chr5:80255600-80255800	Bivalent/Poised TSS	Brain Anterior Caudate	brain

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