Variant report

Variant	rs551270514
Chromosome Location	chr5:113698379-113698380
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	POLR2A	chr5:113697943-113698389	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr5:113697418-113698462	ECC-1	luminal epithelium:	n/a	chr5:113697435-113697445
3	ZNF143	chr5:113697549-113698612	GM12878	blood:	n/a	chr5:113698057-113698075
4	POLR2A	chr5:113696338-113698552	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr5:113697291-113699078	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr5:113697330-113699881	HL-60	blood:	n/a	n/a
7	CTCF	chr5:113698340-113698490	GM12866	blood:	n/a	n/a
8	POLR2A	chr5:113696260-113698569	H1-hESC	embryonic stem cell:	n/a	n/a
9	TAF1	chr5:113696959-113698402	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTBP2	chr5:113696255-113699679	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr5:113697180-113699945	H1-hESC	embryonic stem cell:	n/a	chr5:113697435-113697445
12	CREB1	chr5:113697244-113698442	H1-hESC	embryonic stem cell:	n/a	n/a
13	TBP	chr5:113696071-113698416	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3A	chr5:113695715-113700201	H1-hESC	embryonic stem cell:	n/a	chr5:113698330-113698343 chr5:113695868-113695876
15	NANOG	chr5:113698095-113698494	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr5:113697177-113699551	H1-hESC	embryonic stem cell:	n/a	chr5:113697435-113697445
17	REST	chr5:113695933-113698778	H1-neurons	neurons:	n/a	chr5:113698339-113698352 chr5:113697478-113697491 chr5:113697917-113697935 chr5:113696694-113696707 chr5:113698335-113698355 chr5:113697283-113697296 chr5:113698339-113698352 chr5:113697371-113697384 chr5:113698091-113698104
18	POLR2A	chr5:113697473-113698392	HL-60	blood:	n/a	n/a
19	E2F6	chr5:113697469-113699950	H1-hESC	embryonic stem cell:	n/a	chr5:113698328-113698337 chr5:113697691-113697700 chr5:113697887-113697897 chr5:113697881-113697891 chr5:113698015-113698025 chr5:113697884-113697894 chr5:113697878-113697888 chr5:113698070-113698079 chr5:113697660-113697669 chr5:113698068-113698078 chr5:113698076-113698088
20	POLR2A	chr5:113695995-113698608	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIN3A	chr5:113696642-113698430	GM12878	blood:	n/a	chr5:113698330-113698343
22	SIN3AK20	chr5:113697961-113698383	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr5:113697149-113698421	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
KCNN2	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882728	chr5:113651694-113731423	Bivalent/Poised TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830451	chr5:113684301-113829833	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3345645	chr5:113697478-113700026	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113695200-113698400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:113695200-113698800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:113695200-113699400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr5:113695400-113699400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr5:113695600-113698800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr5:113695600-113699200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr5:113695600-113700200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr5:113695600-113701000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:113695800-113698800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr5:113695800-113700000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:113696000-113699000	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr5:113696000-113699000	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr5:113696000-113699600	Active TSS	Brain Anterior Caudate	brain
14	chr5:113696200-113698400	Bivalent/Poised TSS	Fetal Stomach	stomach
15	chr5:113696200-113698600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:113696200-113698800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:113696200-113698800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:113696200-113698800	Active TSS	Right Ventricle	heart
19	chr5:113696200-113699200	Active TSS	Brain Substantia Nigra	brain
20	chr5:113696200-113699800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:113696200-113700200	Active TSS	Brain Angular Gyrus	brain
22	chr5:113696400-113698600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:113696400-113698800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:113696400-113698800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr5:113696400-113699200	Active TSS	Fetal Kidney	kidney
26	chr5:113696400-113699200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr5:113696400-113699400	Active TSS	Left Ventricle	heart
28	chr5:113696400-113699400	Active TSS	Right Atrium	heart
29	chr5:113696600-113698400	Bivalent/Poised TSS	A549	lung
30	chr5:113696600-113698600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:113696600-113698600	Active TSS	Fetal Brain Female	brain
32	chr5:113696600-113698800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
33	chr5:113696600-113699200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:113696600-113699400	Active TSS	Brain Cingulate Gyrus	brain
35	chr5:113696600-113699400	Bivalent/Poised TSS	NHLF	lung
36	chr5:113696600-113699600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:113696600-113699800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:113696800-113698400	Bivalent/Poised TSS	Thymus	Thymus
39	chr5:113696800-113698800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:113696800-113699000	Bivalent/Poised TSS	NHEK	skin
41	chr5:113696800-113699200	Weak transcription	Fetal Heart	heart
42	chr5:113696800-113699800	Bivalent/Poised TSS	Psoas Muscle	Psoas
43	chr5:113697000-113698600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:113697000-113699000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
45	chr5:113697000-113699200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:113697000-113699200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
47	chr5:113697000-113699400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
48	chr5:113697000-113699600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
49	chr5:113697000-113699600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
50	chr5:113697200-113698400	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion

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