Variant report

Variant	rs554040028
Chromosome Location	chr8:121458910-121458911
allele	A/G
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	E2F4	chr8:121458674-121459060	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121451054..121453168-chr8:121457842..121461614,3	K562	blood:

Variant related genes	Relation type
MRPL13	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv519152	chr8:121458457-121571266	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121456200-121459000	Active TSS	K562	blood
2	chr8:121456200-121459600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr8:121457800-121459000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:121457800-121459000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr8:121457800-121459000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:121457800-121459000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:121458000-121465800	Weak transcription	Spleen	Spleen
8	chr8:121458000-121467200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:121458000-121468000	Weak transcription	Esophagus	oesophagus
10	chr8:121458000-121468200	Weak transcription	Gastric	stomach
11	chr8:121458000-121478400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:121458000-121480800	Weak transcription	Lung	lung
13	chr8:121458000-121480800	Weak transcription	Pancreas	Pancrea
14	chr8:121458000-121510400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:121458200-121459000	Flanking Active TSS	NHEK	skin
16	chr8:121458200-121466000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:121458200-121479600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:121458200-121480600	Weak transcription	Left Ventricle	heart
19	chr8:121458200-121483000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:121458200-121505200	Weak transcription	Placenta	Placenta
21	chr8:121458400-121459000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:121458400-121459000	Flanking Active TSS	Dnd41	blood
23	chr8:121458400-121459000	Flanking Active TSS	HepG2	liver
24	chr8:121458400-121459600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:121458400-121463800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:121458400-121463800	Weak transcription	Fetal Intestine Small	intestine
27	chr8:121458400-121464000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr8:121458400-121470600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr8:121458400-121471000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:121458400-121474200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:121458400-121474400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:121458400-121480600	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:121458400-121481800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:121458400-121482600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:121458400-121482800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:121458400-121484400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:121458400-121484600	Weak transcription	Small Intestine	intestine
38	chr8:121458400-121485400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:121458400-121488000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:121458400-121490200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:121458400-121501000	Weak transcription	Ovary	ovary
42	chr8:121458600-121459000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr8:121458600-121459000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:121458600-121459000	Enhancers	Primary T cells from cord blood	blood
45	chr8:121458600-121459000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr8:121458600-121459000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:121458600-121459000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr8:121458600-121459000	Flanking Active TSS	GM12878-XiMat	blood
49	chr8:121458600-121459000	Enhancers	HUVEC	blood vessel
50	chr8:121458600-121459600	Weak transcription	Primary hematopoietic stem cells	blood

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