Variant report

Variant	rs559720525
Chromosome Location	chr4:103788203-103788204
allele	-/CTTTGT
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	EP300	chr4:103788087-103788283	GM12878	blood:	n/a	n/a
2	GATA3	chr4:103787878-103788230	SH-SY5Y	brain:	n/a	chr4:103788056-103788077 chr4:103788058-103788074
3	TBL1XR1	chr4:103787704-103789083	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:103746553..103755574-chr4:103787108..103794302,29	MCF-7	breast:
2	chr4:103727572..103730495-chr4:103786922..103788552,2	MCF-7	breast:
3	chr4:103741330..103752134-chr4:103778393..103796398,92	K562	blood:
4	chr4:103770498..103773178-chr4:103786218..103788263,2	K562	blood:
5	chr4:103782723..103785636-chr4:103787155..103789919,2	MCF-7	breast:
6	chr4:103736995..103756245-chr4:103778393..103800311,117	K562	blood:

Variant related genes	Relation type
CISD2	TF binding region
ENSG00000246560	Chromatin interaction
ENSG00000109332	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594957	chr4:103728010-103870091	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	esv1802717	chr4:103765156-103870091	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2757946	chr4:103780705-104057321	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv2759270	chr4:103780705-104057321	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
5	nsv879683	chr4:103785051-103916717	Flanking Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv1849799	chr4:103787351-103881772	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103765400-103788800	Weak transcription	Left Ventricle	heart
2	chr4:103780200-103789200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:103780400-103788800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:103781000-103788800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:103781000-103789400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:103781200-103788600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:103781800-103789600	Weak transcription	Fetal Brain Male	brain
8	chr4:103782200-103788600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:103782200-103788600	Weak transcription	Fetal Thymus	thymus
10	chr4:103782200-103788800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:103782200-103788800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:103782400-103788800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:103782400-103788800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:103782400-103788800	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:103782400-103789200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:103782400-103789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:103782600-103788400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr4:103782600-103789000	Weak transcription	Fetal Stomach	stomach
19	chr4:103783400-103788800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:103784000-103788600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr4:103784000-103788800	Weak transcription	Primary B cells from cord blood	blood
22	chr4:103784200-103788600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:103784400-103788800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr4:103784600-103788800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr4:103784800-103788600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:103785200-103789000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:103785600-103788600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr4:103785600-103788800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr4:103785800-103788800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:103785800-103789000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr4:103786200-103788800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:103786400-103788600	Weak transcription	Liver	Liver
33	chr4:103786600-103788400	Enhancers	HepG2	liver
34	chr4:103786600-103788800	Enhancers	Primary hematopoietic stem cells	blood
35	chr4:103786800-103789000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr4:103787200-103788800	Enhancers	Primary T cells from cord blood	blood
37	chr4:103787200-103789800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:103787400-103789000	Flanking Active TSS	Dnd41	blood
39	chr4:103787400-103789200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:103787600-103791000	Active TSS	K562	blood
41	chr4:103787600-103792600	Active TSS	GM12878-XiMat	blood
42	chr4:103787800-103788400	Flanking Active TSS	Hela-S3	cervix
43	chr4:103787800-103788800	Enhancers	Thymus	Thymus
44	chr4:103788000-103788400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr4:103788000-103788400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr4:103788000-103788400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr4:103788000-103788600	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr4:103788000-103788600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr4:103788000-103788800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:103788000-103788800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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