Variant report

Variant	rs568453203
Chromosome Location	chr8:110551098-110551099
allele	-/A
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	RFX5	chr8:110551040-110553109	IMR90	lung:	n/a	chr8:110551195-110551208 chr8:110551778-110551787
2	POLR2A	chr8:110550770-110554098	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:110550972-110553228	SK-N-MC	brain:	n/a	n/a
4	RFX5	chr8:110550556-110553241	SK-N-SH	brain:	n/a	chr8:110551195-110551208 chr8:110551778-110551787
5	POLR2A	chr8:110550683-110554025	Raji	blood:	n/a	n/a
6	REST	chr8:110550834-110552923	H1-neurons	neurons:	n/a	chr8:110551898-110551911 chr8:110552133-110552146
7	RELA	chr8:110551072-110553029	GM12891	blood:	n/a	chr8:110552180-110552189 chr8:110552180-110552189
8	MTA3	chr8:110550978-110551875	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:110550382-110554219	GM12891	blood:	n/a	n/a
10	MAZ	chr8:110551022-110553044	IMR90	lung:	n/a	n/a
11	MXI1	chr8:110550546-110553817	SK-N-SH	brain:	n/a	n/a
12	MXI1	chr8:110550847-110553142	IMR90	lung:	n/a	n/a
13	NFYB	chr8:110550879-110552286	GM12878	blood:	n/a	chr8:110551778-110551788 chr8:110551777-110551792
14	NFYA	chr8:110550929-110551991	K562	blood:	n/a	chr8:110551778-110551788
15	POLR2A	chr8:110551063-110553235	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:110532017..110535509-chr8:110550359..110553902,4	K562	blood:
2	chr8:110550854..110555574-chr8:110655521..110658971,8	MCF-7	breast:
3	chr8:110550248..110554482-chr8:110655662..110659384,5	MCF-7	breast:
4	chr8:110550506..110554029-chr8:110560195..110563108,6	MCF-7	breast:
5	chr8:110534700..110536974-chr8:110550583..110552787,3	MCF-7	breast:
6	chr8:110480733..110484366-chr8:110549857..110553138,3	MCF-7	breast:
7	chr8:110532422..110535509-chr8:110550359..110553902,3	K562	blood:
8	chr8:110491337..110493958-chr8:110550109..110551629,2	MCF-7	breast:
9	chr8:110550694..110556278-chr8:110557032..110565525,15	MCF-7	breast:
10	chr8:110345283..110346986-chr8:110550788..110552919,3	MCF-7	breast:
11	chr8:110344871..110348245-chr8:110549404..110554651,7	MCF-7	breast:
12	chr8:110490813..110493110-chr8:110549363..110552380,3	MCF-7	breast:
13	chr8:110550646..110556695-chr8:110561304..110567831,11	K562	blood:
14	chr8:110549295..110551335-chr8:110575398..110578462,3	K562	blood:
15	chr8:110550857..110553602-chr8:110653501..110657228,5	K562	blood:

Variant related genes	Relation type
EBAG9	TF binding region
ENSG00000205038	Chromatin interaction
ENSG00000254185	Chromatin interaction
ENSG00000147642	Chromatin interaction
ENSG00000248050	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000120526	Chromatin interaction
ENSG00000147654	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	nsv891281	chr8:110450092-110558622	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
2	esv3444305	chr8:110551095-110551343	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110543600-110551200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:110545600-110551200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:110547400-110551200	Weak transcription	Fetal Intestine Small	intestine
4	chr8:110548000-110551200	Weak transcription	NHEK	skin
5	chr8:110548400-110551200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:110548400-110551200	Weak transcription	HSMMtube	muscle
7	chr8:110548600-110551200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:110549600-110551400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:110549800-110551200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:110549800-110551200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:110550600-110551200	Enhancers	Primary hematopoietic stem cells	blood
12	chr8:110550600-110551600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:110550800-110551200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:110550800-110551200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:110550800-110551200	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:110550800-110551200	Enhancers	Liver	Liver
17	chr8:110550800-110551200	Enhancers	Fetal Brain Male	brain
18	chr8:110550800-110551200	Enhancers	Fetal Lung	lung
19	chr8:110550800-110551200	Enhancers	Fetal Muscle Leg	muscle
20	chr8:110550800-110551400	Flanking Active TSS	K562	blood
21	chr8:110550800-110551600	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr8:110550800-110551600	Flanking Active TSS	GM12878-XiMat	blood
23	chr8:110550800-110553400	Active TSS	Colonic Mucosa	Colon
24	chr8:110550800-110553600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:110551000-110551200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr8:110551000-110551200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:110551000-110551200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:110551000-110551200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:110551000-110551200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:110551000-110551200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr8:110551000-110551200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:110551000-110551200	Enhancers	Primary T cells from cord blood	blood
33	chr8:110551000-110551200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr8:110551000-110551200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:110551000-110551200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr8:110551000-110551200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr8:110551000-110551200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr8:110551000-110551200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr8:110551000-110551200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr8:110551000-110551200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:110551000-110551200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:110551000-110551200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:110551000-110551200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:110551000-110551200	Enhancers	Adipose Nuclei	Adipose
45	chr8:110551000-110551200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:110551000-110551200	Enhancers	Colon Smooth Muscle	Colon
47	chr8:110551000-110551200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr8:110551000-110551200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr8:110551000-110551200	Enhancers	Fetal Intestine Large	intestine
50	chr8:110551000-110551200	Enhancers	Fetal Kidney	kidney

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