Variant report

Variant	rs556297352
Chromosome Location	chr4:79788695-79788696
allele	-/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	POLR2A	chr4:79788182-79788914	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79785946..79789478-chr4:79791153..79794900,4	K562	blood:
2	chr4:79779277..79780895-chr4:79788393..79790584,2	K562	blood:

Variant related genes	Relation type
BMP2K	TF binding region
ENSG00000138756	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1007685	chr4:79732468-79788768	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv879504	chr4:79759796-79874275	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv2260125	chr4:79788695-79788696	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79738800-79793200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:79744600-79793800	Weak transcription	Psoas Muscle	Psoas
3	chr4:79747200-79815600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:79748800-79823600	Weak transcription	Small Intestine	intestine
5	chr4:79749200-79793600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:79749400-79792400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:79749400-79793800	Weak transcription	Gastric	stomach
8	chr4:79749600-79793000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:79749600-79793600	Weak transcription	Brain Germinal Matrix	brain
10	chr4:79749600-79793800	Weak transcription	Fetal Brain Female	brain
11	chr4:79749800-79793400	Weak transcription	Thymus	Thymus
12	chr4:79749800-79793600	Weak transcription	Colonic Mucosa	Colon
13	chr4:79750400-79791400	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:79750400-79792200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:79750400-79792600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:79750400-79793600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:79750400-79797000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:79750600-79792600	Weak transcription	HSMMtube	muscle
19	chr4:79750600-79793600	Weak transcription	Fetal Kidney	kidney
20	chr4:79759600-79792400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:79760000-79792400	Weak transcription	Fetal Lung	lung
22	chr4:79760600-79794800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:79761000-79791800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:79764600-79792400	Weak transcription	Brain Anterior Caudate	brain
25	chr4:79767400-79789200	Weak transcription	Brain Substantia Nigra	brain
26	chr4:79768400-79811400	Weak transcription	Hela-S3	cervix
27	chr4:79771400-79801000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr4:79772800-79792000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:79774400-79793600	Weak transcription	Right Ventricle	heart
30	chr4:79774600-79793400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:79774800-79793200	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:79776000-79792000	Weak transcription	Esophagus	oesophagus
33	chr4:79777200-79792400	Weak transcription	Brain Angular Gyrus	brain
34	chr4:79779000-79792400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr4:79779000-79814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:79779600-79791800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:79779800-79858200	Weak transcription	Fetal Brain Male	brain
38	chr4:79781400-79793000	Weak transcription	Ovary	ovary
39	chr4:79782000-79793800	Weak transcription	Aorta	Aorta
40	chr4:79782400-79789400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:79782400-79792200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:79782800-79792400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:79783200-79801000	Strong transcription	K562	blood
44	chr4:79783800-79789200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:79784000-79793800	Weak transcription	A549	lung
46	chr4:79784000-79811200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:79785000-79793000	Weak transcription	HepG2	liver
48	chr4:79785000-79793800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:79785000-79832400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:79785200-79793800	Weak transcription	NHEK	skin

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