Variant report

Variant	rs141601903
Chromosome Location	chr3:52741343-52741344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr3:52741269-52742113	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:52741249-52741417	HepG2	liver:	n/a	n/a
3	EGR1	chr3:52741252-52741544	K562	blood:	n/a	n/a
4	POLR2A	chr3:52738509-52741957	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:52741262-52741437	K562	blood:	n/a	n/a
6	MXI1	chr3:52737444-52741872	SK-N-SH	brain:	n/a	n/a
7	PML	chr3:52741223-52742041	GM12878	blood:	n/a	n/a
8	POLR2A	chr3:52741251-52741948	GM12878	blood:	n/a	n/a
9	ELF1	chr3:52741265-52741752	GM12878	blood:	n/a	chr3:52741682-52741693
10	EGR1	chr3:52741272-52741509	K562	blood:	n/a	n/a
11	MTA3	chr3:52741227-52742130	GM12878	blood:	n/a	n/a
12	RUNX3	chr3:52741295-52742097	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52718628..52724105-chr3:52738117..52743946,12	MCF-7	breast:
2	chr3:52567128..52569011-chr3:52738941..52741649,3	K562	blood:
3	chr3:52567315..52569798-chr3:52739141..52741499,3	MCF-7	breast:
4	chr3:52569513..52572297-chr3:52740518..52742042,2	K562	blood:

No data

Variant related genes	Relation type
GLT8D1	TF binding region
ENSG00000163939	Chromatin interaction
ENSG00000168273	Chromatin interaction
ENSG00000168268	Chromatin interaction
ENSG00000163938	Chromatin interaction
ENSG00000212493	Chromatin interaction
ENSG00000252787	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	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv508219	chr3:52741193-52803899	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr3:52737800-52741400	Active TSS	NHLF	lung
2	chr3:52737800-52741600	Active TSS	Colonic Mucosa	Colon
3	chr3:52738000-52741400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:52738000-52741400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:52738000-52741600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:52738200-52741400	Active TSS	NHDF-Ad	bronchial
7	chr3:52738200-52741800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr3:52738400-52741600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:52738400-52741800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr3:52738600-52741400	Active TSS	Aorta	Aorta
11	chr3:52738800-52741400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr3:52738800-52741600	Active TSS	A549	lung
13	chr3:52739000-52741400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr3:52739000-52741400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:52739000-52741400	Active TSS	Pancreas	Pancrea
16	chr3:52739000-52741400	Active TSS	Right Atrium	heart
17	chr3:52739000-52741400	Active TSS	Right Ventricle	heart
18	chr3:52739000-52741400	Active TSS	Hela-S3	cervix
19	chr3:52739000-52741400	Active TSS	HSMMtube	muscle
20	chr3:52739000-52741400	Active TSS	K562	blood
21	chr3:52739000-52741400	Active TSS	NHEK	skin
22	chr3:52739000-52741600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr3:52739000-52741600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr3:52739000-52741600	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr3:52739000-52742600	Active TSS	GM12878-XiMat	blood
26	chr3:52739200-52741400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:52739200-52741400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:52739200-52741400	Active TSS	HSMM	muscle
29	chr3:52739200-52741600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:52739400-52741400	Active TSS	Fetal Intestine Large	intestine
31	chr3:52739400-52741600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr3:52740200-52741400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr3:52740200-52741800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:52740200-52742200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:52740400-52741400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr3:52740400-52741400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr3:52740400-52741600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr3:52740400-52741800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr3:52740400-52741800	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr3:52740400-52741800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr3:52740400-52742000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr3:52740600-52741400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr3:52740600-52741400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:52740600-52741400	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr3:52740600-52741400	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr3:52740600-52741600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:52740600-52741600	Flanking Active TSS	Fetal Stomach	stomach
48	chr3:52740600-52741600	Flanking Active TSS	Fetal Thymus	thymus
49	chr3:52740600-52741600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr3:52740600-52741800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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