Variant report

Variant	rs539003049
Chromosome Location	chr4:125633427-125633428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:125633325..125633827-chr5:64920331..64921029,2	Hela-S3	cervix:
2	chr17:39844836..39845708-chr4:125633255..125633833,2	Hela-S3	cervix:
3	chr4:125355738..125360405-chr4:125631320..125634850,4	MCF-7	breast:
4	chr17:62222980..62223583-chr4:125633275..125633982,2	HCT-116	colon:
5	chr4:125631616..125633726-chr4:125883727..125886839,4	MCF-7	breast:
6	chr19:41932741..41933241-chr4:125632924..125633492,2	HCT-116	colon:
7	chr12:54069744..54070245-chr4:125633304..125633812,2	HCT-116	colon:
8	chr16:14050941..14051878-chr4:125632915..125633814,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000135390	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000113595	Chromatin interaction
ENSG00000113597	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000248506	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000253251	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343011	chr4:125632527-125635375	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125630000-125634800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:125630600-125635000	Active TSS	A549	lung
3	chr4:125630600-125635200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:125631000-125634200	Active TSS	Placenta	Placenta
5	chr4:125631200-125634600	Active TSS	Brain Cingulate Gyrus	brain
6	chr4:125631400-125634600	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr4:125631600-125634200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:125631600-125634200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:125631600-125634400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr4:125631600-125634400	Active TSS	Fetal Brain Female	brain
11	chr4:125631600-125634600	Active TSS	Fetal Muscle Trunk	muscle
12	chr4:125631600-125634600	Active TSS	Fetal Muscle Leg	muscle
13	chr4:125631600-125634600	Active TSS	Gastric	stomach
14	chr4:125631600-125634600	Active TSS	Lung	lung
15	chr4:125631600-125634600	Active TSS	NHLF	lung
16	chr4:125631600-125634800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:125631600-125634800	Active TSS	Aorta	Aorta
18	chr4:125631600-125634800	Active TSS	Ovary	ovary
19	chr4:125631600-125634800	Active TSS	Right Ventricle	heart
20	chr4:125631800-125634200	Active TSS	NHDF-Ad	bronchial
21	chr4:125631800-125634400	Active TSS	Fetal Intestine Small	intestine
22	chr4:125631800-125634400	Active TSS	HSMM	muscle
23	chr4:125631800-125634600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:125631800-125634800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:125631800-125634800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:125631800-125634800	Active TSS	Stomach Smooth Muscle	stomach
27	chr4:125632000-125634200	Active TSS	NH-A	brain
28	chr4:125632000-125634400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr4:125632000-125634600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr4:125632000-125634600	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr4:125632000-125634600	Active TSS	Brain Angular Gyrus	brain
32	chr4:125632000-125634600	Active TSS	Colon Smooth Muscle	Colon
33	chr4:125632000-125634600	Active TSS	Fetal Stomach	stomach
34	chr4:125632000-125634600	Active TSS	Fetal Thymus	thymus
35	chr4:125632000-125634600	Active TSS	Psoas Muscle	Psoas
36	chr4:125632000-125634600	Active TSS	Rectal Smooth Muscle	rectum
37	chr4:125632000-125635000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:125632200-125634200	Active TSS	Muscle Satellite Cultured Cells	--
39	chr4:125632200-125634200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:125632200-125634200	Active TSS	HSMMtube	muscle
41	chr4:125632200-125634200	Active TSS	HUVEC	blood vessel
42	chr4:125632200-125634400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:125632200-125634400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:125632200-125634400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:125632200-125634400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:125632200-125634400	Active TSS	Colonic Mucosa	Colon
47	chr4:125632200-125634600	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr4:125632200-125634600	Active TSS	Brain Anterior Caudate	brain
49	chr4:125632200-125634600	Active TSS	Esophagus	oesophagus
50	chr4:125632200-125634600	Active TSS	Fetal Intestine Large	intestine

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