Variant report

Variant	rs57829926
Chromosome Location	chr5:114880918-114880919
allele	C/T
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	E2F6	chr5:114880609-114881040	A549	lung:	n/a	chr5:114880672-114880681
2	TCF7L2	chr5:114880106-114881070	Hela-S3	cervix:	n/a	chr5:114880276-114880285 chr5:114880277-114880284
3	POLR2A	chr5:114880153-114881034	SK-N-MC	brain:	n/a	n/a
4	JUN	chr5:114879459-114881315	K562	blood:	n/a	chr5:114880671-114880680
5	CBX3	chr5:114880152-114881427	K562	blood:	n/a	n/a
6	MAX	chr5:114879547-114881292	A549	lung:	n/a	n/a
7	POLR2A	chr5:114879988-114880963	MCF-7	breast:	n/a	n/a
8	POLR2A	chr5:114878580-114881082	HepG2	liver:	n/a	n/a
9	USF2	chr5:114880744-114881217	Hela-S3	cervix:	n/a	n/a
10	MAZ	chr5:114879384-114881373	IMR90	lung:	n/a	n/a
11	WRNIP1	chr5:114880797-114881271	GM12878	blood:	n/a	n/a
12	MAZ	chr5:114880014-114881057	HepG2	liver:	n/a	n/a
13	PAX5	chr5:114880219-114881095	GM12878	blood:	n/a	n/a
14	MAX	chr5:114879523-114881139	Hela-S3	cervix:	n/a	n/a
15	RFX5	chr5:114880031-114881014	Hela-S3	cervix:	n/a	n/a
16	ATF2	chr5:114880599-114881056	GM12878	blood:	n/a	n/a
17	HCFC1	chr5:114880218-114881167	K562	blood:	n/a	n/a
18	BHLHE40	chr5:114880186-114880984	K562	blood:	n/a	chr5:114880428-114880444 chr5:114880193-114880209
19	GATA3	chr5:114880042-114881214	A549	lung:	n/a	n/a
20	POLR2A	chr5:114879624-114880971	GM12878	blood:	n/a	n/a
21	MAX	chr5:114879906-114881201	ECC-1	luminal epithelium:	n/a	n/a
22	BHLHE40	chr5:114880154-114881143	GM12878	blood:	n/a	chr5:114880428-114880444 chr5:114880193-114880209
23	CBX3	chr5:114880149-114881471	HCT-116	colon:	n/a	n/a
24	HEY1	chr5:114880115-114881192	HepG2	liver:	n/a	chr5:114880672-114880687 chr5:114880301-114880316
25	POLR2A	chr5:114879324-114881486	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr5:114879648-114880939	K562	blood:	n/a	n/a
27	POLR2A	chr5:114879466-114881269	Hela-S3	cervix:	n/a	n/a
28	MAX	chr5:114879919-114881244	MCF-7	breast:	n/a	n/a
29	MAX	chr5:114879890-114881336	HCT-116	colon:	n/a	n/a
30	KAP1	chr5:114880730-114881460	K562	blood:	n/a	n/a
31	CCNT2	chr5:114880049-114880961	K562	blood:	n/a	chr5:114880672-114880681
32	USF2	chr5:114880860-114881097	GM12878	blood:	n/a	n/a
33	POLR2A	chr5:114880046-114880985	A549	lung:	n/a	n/a
34	RCOR1	chr5:114879568-114881373	K562	blood:	n/a	n/a
35	POLR2A	chr5:114880072-114880942	GM12878	blood:	n/a	n/a
36	TAF1	chr5:114879877-114881029	A549	lung:	n/a	n/a
37	SETDB1	chr5:114880630-114881579	U2OS	brain:	n/a	n/a
38	POLR2A	chr5:114879466-114881121	U87	brain:	n/a	n/a
39	POLR2A	chr5:114880596-114880991	SK-N-SH	brain:	n/a	n/a
40	CBX3	chr5:114880652-114881290	K562	blood:	n/a	n/a
41	POLR2A	chr5:114879525-114881329	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr5:114879995-114880971	GM12878	blood:	n/a	n/a
43	TAF1	chr5:114879873-114880930	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr5:114879508-114881177	GM12878	blood:	n/a	n/a
45	SIN3AK20	chr5:114879432-114881124	MCF-7	breast:	n/a	n/a
46	POLR2A	chr5:114879553-114881163	GM12892	blood:	n/a	n/a
47	TAF1	chr5:114879447-114880952	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAZ	chr5:114879591-114881085	K562	blood:	n/a	n/a
49	RCOR1	chr5:114879748-114881052	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr5:114879524-114881079	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114880215..114881730-chr5:114959993..114961960,2	K562	blood:
2	chr5:114878345..114880939-chr5:115175674..115177985,2	K562	blood:

Variant related genes	Relation type
FEM1C	TF binding region
ENSG00000243414	Chromatin interaction
ENSG00000145782	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000134970	Chromatin interaction
ENSG00000251201	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10074639	1.00[AMR][1000 genomes]
rs73783136	1.00[AMR][1000 genomes]
rs9885054	1.00[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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3428371	chr5:114880442-114882878	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114874200-114881200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:114875600-114881000	Active TSS	Fetal Brain Female	brain
3	chr5:114875600-114881200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:114876200-114881000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:114876200-114881000	Active TSS	HMEC	breast
6	chr5:114876600-114881200	Active TSS	HSMMtube	muscle
7	chr5:114877200-114881200	Active TSS	Colonic Mucosa	Colon
8	chr5:114877400-114881000	Active TSS	Colon Smooth Muscle	Colon
9	chr5:114877400-114881400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr5:114877600-114881200	Active TSS	HSMM	muscle
11	chr5:114878000-114881000	Active TSS	Stomach Mucosa	stomach
12	chr5:114878600-114881000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr5:114878600-114881000	Active TSS	Pancreas	Pancrea
14	chr5:114878800-114881000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:114878800-114881000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:114879000-114881000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:114879000-114881000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr5:114879000-114881000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:114879000-114881000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr5:114879000-114881000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr5:114879000-114881000	Active TSS	Psoas Muscle	Psoas
22	chr5:114879000-114881200	Active TSS	A549	lung
23	chr5:114879000-114881400	Active TSS	Fetal Heart	heart
24	chr5:114879200-114881000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr5:114879200-114881000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr5:114879200-114881000	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr5:114879200-114881000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:114879200-114881000	Active TSS	Left Ventricle	heart
29	chr5:114879200-114881000	Active TSS	Ovary	ovary
30	chr5:114879200-114881000	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr5:114879200-114881000	Active TSS	Right Ventricle	heart
32	chr5:114879200-114881000	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr5:114879200-114881000	Active TSS	Stomach Smooth Muscle	stomach
34	chr5:114879200-114881000	Active TSS	K562	blood
35	chr5:114879200-114881000	Active TSS	Osteobl	bone
36	chr5:114879200-114881200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr5:114879200-114881200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:114879200-114881200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:114879200-114881200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:114879200-114881200	Active TSS	Liver	Liver
41	chr5:114879200-114881200	Active TSS	Rectal Smooth Muscle	rectum
42	chr5:114879200-114881400	Active TSS	Brain Angular Gyrus	brain
43	chr5:114879400-114881000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:114879400-114881000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr5:114879400-114881000	Active TSS	Brain Hippocampus Middle	brain
46	chr5:114879400-114881000	Active TSS	Brain Substantia Nigra	brain
47	chr5:114879400-114881000	Active TSS	NHDF-Ad	bronchial
48	chr5:114879400-114881000	Active TSS	NHEK	skin
49	chr5:114879400-114881200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:114879400-114881200	Active TSS	Thymus	Thymus

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