Variant report

Variant	rs375739298
Chromosome Location	chr5:114632734-114632735
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr5:114631381-114633200	K562	blood:	n/a	n/a
2	MAZ	chr5:114632637-114632802	GM12878	blood:	n/a	n/a
3	TBP	chr5:114632652-114632979	Hela-S3	cervix:	n/a	n/a
4	ZC3H11A	chr5:114632699-114632886	K562	blood:	n/a	n/a
5	MXI1	chr5:114630407-114633003	SK-N-SH	brain:	n/a	n/a
6	CHD2	chr5:114632665-114632775	K562	blood:	n/a	n/a
7	MAZ	chr5:114631291-114632905	IMR90	lung:	n/a	n/a
8	IRF1	chr5:114631992-114632811	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114619634..114629040-chr5:114629951..114633566,14	MCF-7	breast:
2	chr5:114630838..114633826-chr5:114960976..114962823,3	MCF-7	breast:
3	chr5:114596880..114599090-chr5:114631128..114633570,2	MCF-7	breast:
4	chr5:114630836..114633202-chr5:115177399..115179913,2	MCF-7	breast:
5	chr5:114596551..114598881-chr5:114630526..114633575,4	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC112	TF binding region
ENSG00000243414	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000251201	Chromatin interaction
ENSG00000271797	Chromatin interaction
ENSG00000250197	Chromatin interaction
ENSG00000164219	Chromatin interaction
ENSG00000145782	Chromatin interaction
ENSG00000134970	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3409295	chr5:114631078-114633926	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	esv3403466	chr5:114632003-114633201	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114630200-114633000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr5:114630400-114632800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr5:114630400-114632800	Active TSS	Fetal Brain Female	brain
4	chr5:114630600-114632800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr5:114630600-114633200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:114630800-114632800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:114630800-114632800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr5:114630800-114632800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr5:114630800-114632800	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr5:114630800-114633000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr5:114630800-114633000	Active TSS	Brain Anterior Caudate	brain
12	chr5:114631000-114632800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:114631000-114632800	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr5:114631000-114632800	Active TSS	NHLF	lung
15	chr5:114631000-114633000	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr5:114631000-114633200	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr5:114631200-114632800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr5:114631200-114632800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:114631200-114632800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:114631200-114632800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:114631200-114632800	Active TSS	Fetal Kidney	kidney
22	chr5:114631200-114632800	Active TSS	Right Ventricle	heart
23	chr5:114631200-114632800	Active TSS	HSMMtube	muscle
24	chr5:114631200-114633000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:114631200-114633000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:114631200-114633000	Active TSS	Brain Angular Gyrus	brain
27	chr5:114631200-114633000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr5:114631200-114633200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:114631200-114633200	Active TSS	Thymus	Thymus
30	chr5:114631400-114632800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:114631400-114632800	Active TSS	Aorta	Aorta
32	chr5:114631400-114632800	Active TSS	Left Ventricle	heart
33	chr5:114631400-114632800	Active TSS	Rectal Smooth Muscle	rectum
34	chr5:114631400-114632800	Active TSS	NHDF-Ad	bronchial
35	chr5:114631400-114632800	Active TSS	Osteobl	bone
36	chr5:114631400-114633000	Active TSS	A549	lung
37	chr5:114631400-114633000	Active TSS	NH-A	brain
38	chr5:114631600-114632800	Active TSS	Hela-S3	cervix
39	chr5:114631600-114632800	Active TSS	HMEC	breast
40	chr5:114631600-114633000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:114631800-114632800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr5:114631800-114632800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr5:114631800-114632800	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr5:114631800-114632800	Active TSS	Fetal Intestine Small	intestine
45	chr5:114631800-114632800	Active TSS	Fetal Muscle Leg	muscle
46	chr5:114631800-114632800	Active TSS	Psoas Muscle	Psoas
47	chr5:114631800-114632800	Active TSS	HUVEC	blood vessel
48	chr5:114631800-114632800	Active TSS	K562	blood
49	chr5:114631800-114633000	Active TSS	Primary T cells from cord blood	blood
50	chr5:114631800-114633000	Active TSS	GM12878-XiMat	blood

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