Variant report

Variant	rs10634954
Chromosome Location	chr4:79575307-79575308
allele	-/AG/AGTA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr4:79574699-79575375	SK-N-SH	brain:	n/a	chr4:79575023-79575034
2	CEBPD	chr4:79574804-79575308	K562	blood:	n/a	n/a
3	EP300	chr4:79574460-79576528	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79536352..79538431-chr4:79574021..79576567,2	K562	blood:
2	chr4:79569060..79573102-chr4:79573355..79577371,7	K562	blood:
3	chr4:79574980..79576539-chr4:79577266..79578943,2	K562	blood:
4	chr4:79573524..79575616-chr4:79695748..79697732,2	MCF-7	breast:
5	chr4:79573896..79576451-chr4:79609109..79611530,2	K562	blood:
6	chr4:79573461..79577118-chr4:79700688..79703892,3	K562	blood:
7	chr4:79573609..79576927-chr4:79583175..79586831,3	MCF-7	breast:

No data

Variant related genes	Relation type
HIGD1AP13	TF binding region
ENSG00000138756	Chromatin interaction
ENSG00000260278	Chromatin interaction
ENSG00000251019	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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3367706	chr4:79574895-79575447	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79551400-79578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:79564400-79577200	Weak transcription	Fetal Thymus	thymus
3	chr4:79564400-79589600	Weak transcription	Lung	lung
4	chr4:79567800-79578200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:79567800-79580400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:79567800-79583400	Weak transcription	Psoas Muscle	Psoas
7	chr4:79568000-79575600	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:79568000-79578000	Enhancers	HUVEC	blood vessel
9	chr4:79568000-79582800	Weak transcription	Right Atrium	heart
10	chr4:79569600-79575400	Enhancers	NHDF-Ad	bronchial
11	chr4:79571000-79576400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:79571000-79576600	Enhancers	Osteobl	bone
13	chr4:79571800-79575400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:79571800-79578200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:79572000-79575600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:79572000-79576600	Weak transcription	Spleen	Spleen
17	chr4:79572200-79578000	Enhancers	K562	blood
18	chr4:79572800-79575800	Weak transcription	Primary B cells from cord blood	blood
19	chr4:79572800-79576000	Enhancers	Brain Hippocampus Middle	brain
20	chr4:79572800-79582800	Weak transcription	Hela-S3	cervix
21	chr4:79573000-79576000	Enhancers	Brain Cingulate Gyrus	brain
22	chr4:79573000-79576600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr4:79573000-79579000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:79573400-79578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:79573400-79578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:79573600-79578000	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:79573800-79575400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:79573800-79575400	Weak transcription	Fetal Stomach	stomach
29	chr4:79573800-79576200	Enhancers	Brain Substantia Nigra	brain
30	chr4:79573800-79577400	Weak transcription	Dnd41	blood
31	chr4:79573800-79578200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:79573800-79578800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:79573800-79579000	Weak transcription	HSMM	muscle
34	chr4:79573800-79579000	Weak transcription	NHEK	skin
35	chr4:79573800-79583200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:79573800-79583600	Weak transcription	Colon Smooth Muscle	Colon
37	chr4:79573800-79584200	Weak transcription	Left Ventricle	heart
38	chr4:79573800-79587000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:79574000-79575600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:79574000-79581800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:79574000-79582400	Weak transcription	Fetal Heart	heart
42	chr4:79574200-79575400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:79574200-79575400	Weak transcription	Adipose Nuclei	Adipose
44	chr4:79574200-79575400	Weak transcription	Fetal Lung	lung
45	chr4:79574200-79575600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:79574200-79580400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr4:79574200-79583000	Weak transcription	HSMMtube	muscle
48	chr4:79574400-79575800	Enhancers	Brain Anterior Caudate	brain
49	chr4:79574400-79579000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:79574400-79582600	Weak transcription	Brain Angular Gyrus	brain

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