Variant report

Variant	rs553571540
Chromosome Location	chr5:114937729-114937730
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	chr5:114937720-114937870	HPF	lung:	n/a	n/a
2	BCLAF1	chr5:114937272-114937742	GM12878	blood:	n/a	chr5:114937585-114937594
3	POLR2A	chr5:114937306-114938303	GM12878	blood:	n/a	n/a
4	YY1	chr5:114937340-114937729	GM12878	blood:	n/a	chr5:114937621-114937635
5	CTCF	chr5:114937600-114937750	HMEC	breast:	n/a	n/a
6	IRF4	chr5:114937308-114937807	GM12878	blood:	n/a	n/a
7	YY1	chr5:114937307-114937731	GM12878	blood:	n/a	chr5:114937621-114937635
8	BCLAF1	chr5:114937314-114938529	GM12878	blood:	n/a	chr5:114937585-114937594
9	CTCF	chr5:114937720-114937870	GM12865	blood:	n/a	n/a
10	POLR2A	chr5:114937337-114938493	GM15510	blood:	n/a	n/a
11	CTCF	chr5:114937629-114937906	MCF-7	breast:	n/a	n/a
12	ELF1	chr5:114937488-114938296	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:114937251-114938986	GM12892	blood:	n/a	n/a
14	CTCF	chr5:114937720-114937870	HRPEpiC	eye:	n/a	n/a
15	YY1	chr5:114937321-114937792	GM12892	blood:	n/a	chr5:114937621-114937635
16	CTCF	chr5:114937640-114937790	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr5:114937720-114937870	HCM	heart:	n/a	n/a
18	CTCF	chr5:114937660-114937810	GM12875	blood:	n/a	n/a
19	SIN3A	chr5:114937391-114937927	GM12878	blood:	n/a	chr5:114937651-114937660 chr5:114937645-114937654
20	CTCF	chr5:114937700-114937850	GM12873	blood:	n/a	n/a
21	STAT1	chr5:114937388-114938350	GM12878	blood:	n/a	n/a
22	CTCF	chr5:114937680-114937830	HFF-Myc	foreskin:	n/a	n/a
23	RELA	chr5:114937302-114937781	GM12892	blood:	n/a	n/a
24	MYC	chr5:114937506-114938422	NB4	blood:	n/a	n/a
25	TCF12	chr5:114937725-114938352	ECC-1	luminal epithelium:	n/a	n/a
26	CTCF	chr5:114937660-114937810	GM12874	blood:	n/a	n/a
27	ATF2	chr5:114937257-114937744	GM12878	blood:	n/a	n/a
28	RELA	chr5:114937343-114937787	GM18526	blood:	n/a	n/a
29	CTCF	chr5:114937720-114937870	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr5:114937680-114937830	GM12873	blood:	n/a	n/a
31	MTA3	chr5:114937716-114938677	GM12878	blood:	n/a	n/a
32	POLR2A	chr5:114937337-114938263	GM12878	blood:	n/a	n/a
33	CTCF	chr5:114937530-114938005	H1-hESC	embryonic stem cell:	n/a	n/a
34	SP1	chr5:114937346-114937757	GM12878	blood:	n/a	n/a
35	POLR2A	chr5:114937603-114937752	A549	lung:	n/a	n/a
36	CTCF	chr5:114937700-114937850	NHLF	lung:	n/a	n/a
37	HMGN3	chr5:114937581-114938261	K562	blood:	n/a	chr5:114938159-114938168
38	POLR2A	chr5:114937659-114938372	ProgFib	skin:	n/a	n/a
39	RUNX3	chr5:114937218-114938783	GM12878	blood:	n/a	chr5:114938232-114938241 chr5:114938232-114938241
40	CTCF	chr5:114937722-114937935	Spleen_OC	spleen:	n/a	n/a
41	PML	chr5:114937358-114937729	GM12878	blood:	n/a	n/a
42	CTCF	chr5:114937681-114938138	IMR90	lung:	n/a	n/a
43	POLR2A	chr5:114937699-114938398	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr5:114937195-114937832	GM12878	blood:	n/a	n/a
45	POLR2A	chr5:114937719-114938256	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr5:114937680-114937830	AoAF	blood vessel:	n/a	n/a
47	POLR2A	chr5:114937576-114937740	A549	lung:	n/a	n/a
48	CTCF	chr5:114937591-114937958	MCF-7	breast:	n/a	n/a
49	MAX	chr5:114937504-114938260	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr5:114937510-114938308	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114934797..114939548-chr5:114953575..114961976,8	K562	blood:
2	chr5:114936247..114938177-chr5:114959534..114962655,3	K562	blood:

Variant related genes	Relation type
ENSG00000249249	TF binding region
ENSG00000134970	Chromatin interaction
ENSG00000251201	Chromatin interaction
ENSG00000243414	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv3344393	chr5:114937053-114938901	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr5:114935800-114938400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:114936000-114938400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:114936000-114938400	Active TSS	Aorta	Aorta
4	chr5:114936400-114938200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:114936400-114938400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:114936600-114938400	Active TSS	Muscle Satellite Cultured Cells	--
7	chr5:114936600-114938400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:114936600-114938400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr5:114936600-114938400	Active TSS	NHLF	lung
10	chr5:114936800-114938400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:114936800-114938400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:114936800-114938400	Active TSS	Brain Hippocampus Middle	brain
13	chr5:114936800-114938400	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr5:114936800-114938400	Weak transcription	Dnd41	blood
15	chr5:114936800-114938400	Active TSS	HSMM	muscle
16	chr5:114936800-114938400	Active TSS	NH-A	brain
17	chr5:114936800-114938400	Active TSS	NHDF-Ad	bronchial
18	chr5:114936800-114938600	Active TSS	Right Atrium	heart
19	chr5:114937000-114938000	Active TSS	Thymus	Thymus
20	chr5:114937000-114938400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr5:114937000-114938400	Active TSS	Fetal Intestine Large	intestine
22	chr5:114937000-114938400	Active TSS	Fetal Intestine Small	intestine
23	chr5:114937000-114938400	Active TSS	Fetal Kidney	kidney
24	chr5:114937000-114938400	Active TSS	Right Ventricle	heart
25	chr5:114937000-114938400	Active TSS	K562	blood
26	chr5:114937000-114938400	Active TSS	Osteobl	bone
27	chr5:114937000-114938600	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr5:114937000-114938600	Active TSS	Fetal Lung	lung
29	chr5:114937000-114938600	Active TSS	Psoas Muscle	Psoas
30	chr5:114937000-114939000	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr5:114937000-114939000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:114937000-114939000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr5:114937200-114938000	Active TSS	Primary T cells fromperipheralblood	blood
34	chr5:114937200-114938000	Active TSS	Brain Germinal Matrix	brain
35	chr5:114937200-114938000	Active TSS	Fetal Thymus	thymus
36	chr5:114937200-114938200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:114937200-114938200	Active TSS	Liver	Liver
38	chr5:114937200-114938200	Active TSS	Fetal Muscle Leg	muscle
39	chr5:114937200-114938200	Active TSS	Placenta Amnion	Placenta Amnion
40	chr5:114937200-114938400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:114937200-114938400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:114937200-114938400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:114937200-114938400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:114937200-114938400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:114937200-114938400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:114937200-114938400	Active TSS	Adipose Nuclei	Adipose
47	chr5:114937200-114938400	Active TSS	Placenta	Placenta
48	chr5:114937200-114938400	Active TSS	Fetal Stomach	stomach
49	chr5:114937200-114938400	Active TSS	Left Ventricle	heart
50	chr5:114937200-114938400	Active TSS	Rectal Mucosa Donor 31	rectum

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