Variant report

Variant	rs57440387
Chromosome Location	chr4:130015352-130015353
allele	C/T
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	chr4:130012946-130016268	SK-N-SH	brain:	n/a	n/a
2	FOXM1	chr4:130014014-130015358	ECC-1	luminal epithelium:	n/a	n/a
3	TBL1XR1	chr4:130014386-130015499	K562	blood:	n/a	n/a
4	POLR2A	chr4:130012893-130015801	MCF10A-Er-Src	breast:	n/a	n/a
5	JUND	chr4:130014016-130015564	K562	blood:	n/a	n/a
6	IRF1	chr4:130013932-130015355	K562	blood:	n/a	chr4:130014820-130014829 chr4:130014330-130014347 chr4:130014330-130014344
7	CHD1	chr4:130013782-130015486	GM12878	blood:	n/a	n/a
8	MYC	chr4:130013950-130015449	K562	blood:	n/a	n/a
9	IRF1	chr4:130013950-130015756	K562	blood:	n/a	chr4:130015414-130015426 chr4:130014820-130014829 chr4:130015578-130015585 chr4:130014330-130014347 chr4:130015415-130015425 chr4:130014330-130014344 chr4:130015414-130015427
10	RFX5	chr4:130013472-130015439	SK-N-SH	brain:	n/a	n/a
11	MXI1	chr4:130013725-130015714	IMR90	lung:	n/a	n/a
12	MAFF	chr4:130015339-130015358	K562	blood:	n/a	n/a
13	JUN	chr4:130014126-130015368	K562	blood:	n/a	chr4:130014759-130014772
14	REST	chr4:130013886-130015360	H1-neurons	neurons:	n/a	chr4:130014616-130014636 chr4:130014744-130014757

No.	Distal block	Cell Line	Cell type
1	chr4:128703531..128705249-chr4:130014655..130017577,2	K562	blood:
2	chr4:129731090..129733904-chr4:130015000..130016574,3	K562	blood:
3	chr4:130012621..130015537-chr4:130015842..130017627,2	K562	blood:
4	chr4:129730340..129733748-chr4:130013373..130016609,5	K562	blood:

Variant related genes	Relation type
C4orf33	TF binding region
SCLT1	TF binding region
ENSG00000151470	Chromatin interaction
ENSG00000077684	Chromatin interaction
ENSG00000164070	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72922045	0.85[AFR][1000 genomes]
rs72922058	0.92[AFR][1000 genomes]
rs72922096	0.85[AFR][1000 genomes]

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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr4:130011200-130016000	Active TSS	NHLF	lung
2	chr4:130011200-130016400	Active TSS	GM12878-XiMat	blood
3	chr4:130012200-130015400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:130012200-130015400	Active TSS	A549	lung
5	chr4:130012400-130015800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:130012600-130015800	Active TSS	Brain Hippocampus Middle	brain
7	chr4:130012800-130015400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:130012800-130015400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:130012800-130015400	Active TSS	Fetal Muscle Trunk	muscle
10	chr4:130012800-130015400	Active TSS	HMEC	breast
11	chr4:130012800-130015600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:130012800-130018600	Active TSS	K562	blood
13	chr4:130013000-130015400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:130013000-130015400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:130013000-130015400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:130013000-130015400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr4:130013200-130015400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr4:130013200-130015400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr4:130013200-130015400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:130013200-130015400	Active TSS	Aorta	Aorta
21	chr4:130013200-130015400	Active TSS	Brain Cingulate Gyrus	brain
22	chr4:130013200-130015400	Active TSS	Colon Smooth Muscle	Colon
23	chr4:130013200-130015400	Active TSS	Fetal Stomach	stomach
24	chr4:130013200-130015600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr4:130013400-130015400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:130013400-130015400	Active TSS	Colonic Mucosa	Colon
27	chr4:130013400-130015400	Active TSS	Fetal Intestine Large	intestine
28	chr4:130013400-130015400	Active TSS	Psoas Muscle	Psoas
29	chr4:130013400-130015400	Active TSS	Right Atrium	heart
30	chr4:130013400-130015400	Active TSS	Right Ventricle	heart
31	chr4:130013400-130015400	Active TSS	Thymus	Thymus
32	chr4:130013400-130015600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:130013400-130015600	Active TSS	Fetal Muscle Leg	muscle
34	chr4:130013400-130015800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr4:130013600-130015400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:130013600-130015400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:130013600-130015400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:130013600-130015400	Active TSS	Brain Substantia Nigra	brain
39	chr4:130013600-130015400	Active TSS	Duodenum Mucosa	Duodenum
40	chr4:130013600-130015400	Active TSS	Fetal Thymus	thymus
41	chr4:130013600-130015400	Active TSS	Dnd41	blood
42	chr4:130013600-130015400	Active TSS	Osteobl	bone
43	chr4:130013600-130015600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:130013600-130015600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:130013600-130015600	Active TSS	Brain Anterior Caudate	brain
46	chr4:130013600-130015600	Active TSS	NH-A	brain
47	chr4:130013600-130015600	Active TSS	NHEK	skin
48	chr4:130013600-130015800	Active TSS	Fetal Brain Female	brain
49	chr4:130013600-130016000	Active TSS	Muscle Satellite Cultured Cells	--
50	chr4:130013800-130015400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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