Variant report

Variant	rs561731548
Chromosome Location	chr3:52932034-52932035
allele	A/C
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	MXI1	chr3:52930503-52932335	IMR90	lung:	n/a	n/a
2	ZNF263	chr3:52931929-52932344	HEK293-T-REx	kidney:	n/a	n/a
3	POLR2A	chr3:52931433-52932079	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAZ	chr3:52930977-52932117	IMR90	lung:	n/a	chr3:52931778-52931789
5	REST	chr3:52931124-52932264	H1-neurons	neurons:	n/a	chr3:52931847-52931860
6	MYC	chr3:52931460-52932100	MCF10A-Er-Src	breast:	n/a	chr3:52931778-52931789
7	ZEB1	chr3:52931428-52932048	GM12878	blood:	n/a	chr3:52931781-52931788
8	GATA1	chr3:52931166-52932073	PBDE	blood:	n/a	n/a
9	MXI1	chr3:52930472-52932499	SK-N-SH	brain:	n/a	n/a
10	HCFC1	chr3:52931059-52932058	Hela-S3	cervix:	n/a	n/a
11	RFX5	chr3:52930810-52932346	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
TMEM110	TF binding region
TMEM110-MUSTN1	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	esv2762328	chr3:52774884-53002150	Strong transcription Enhancers Active TSS Flanking Active TSS Weak 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3339338	chr3:52930462-52933260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52929800-52932200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:52929800-52932200	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr3:52930000-52932200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr3:52930000-52932200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:52930200-52932200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr3:52930200-52932200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:52930200-52932200	Active TSS	GM12878-XiMat	blood
8	chr3:52930400-52932200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr3:52930400-52932200	Active TSS	Fetal Kidney	kidney
10	chr3:52930400-52932200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr3:52930400-52932200	Active TSS	Ovary	ovary
12	chr3:52930800-52932200	Active TSS	NHLF	lung
13	chr3:52931000-52932200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:52931000-52932200	Active TSS	Right Ventricle	heart
15	chr3:52931000-52932200	Active TSS	HSMM	muscle
16	chr3:52931000-52932200	Active TSS	NH-A	brain
17	chr3:52931200-52932200	Active TSS	Primary T cells fromperipheralblood	blood
18	chr3:52931200-52932200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:52931200-52932200	Active TSS	Fetal Intestine Small	intestine
20	chr3:52931200-52932200	Active TSS	Fetal Muscle Trunk	muscle
21	chr3:52931200-52932200	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr3:52931200-52932200	Active TSS	Osteobl	bone
23	chr3:52931200-52932400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:52931400-52932200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:52931600-52932200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr3:52931600-52932400	Enhancers	Fetal Heart	heart
27	chr3:52931600-52932400	Flanking Active TSS	Dnd41	blood
28	chr3:52931600-52945000	Weak transcription	Gastric	stomach
29	chr3:52931800-52932200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:52931800-52932200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:52931800-52932200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr3:52931800-52932200	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr3:52931800-52932200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr3:52931800-52932200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr3:52931800-52932200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr3:52931800-52932200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr3:52931800-52932200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr3:52931800-52932200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:52931800-52932200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:52931800-52932200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:52931800-52932200	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr3:52931800-52932200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr3:52931800-52932200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr3:52931800-52932200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr3:52931800-52932200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr3:52931800-52932200	Flanking Active TSS	Fetal Brain Male	brain
47	chr3:52931800-52932200	Flanking Active TSS	Fetal Lung	lung
48	chr3:52931800-52932200	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr3:52931800-52932200	Flanking Active TSS	Fetal Stomach	stomach
50	chr3:52931800-52932200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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