Variant report

Variant	rs16869830
Chromosome Location	chr8:103911351-103911352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr8:103911001-103911504	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:103911200-103911398	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT1	chr8:103911214-103911361	GM12878	blood:	n/a	n/a
4	EP300	chr8:103911330-103911417	GM12878	blood:	n/a	n/a
5	EBF1	chr8:103911087-103911415	GM12878	blood:	n/a	n/a
6	EBF1	chr8:103911203-103911446	GM12878	blood:	n/a	n/a
7	RUNX3	chr8:103911102-103911503	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103910864..103914937-chr8:103922491..103926362,4	MCF-7	breast:
2	chr8:103878683..103881066-chr8:103911212..103913348,2	MCF-7	breast:
3	chr8:103909625..103914681-chr8:103915019..103918768,8	MCF-7	breast:
4	chr8:103907713..103911822-chr8:103912722..103917770,5	MCF-7	breast:
5	chr8:103874983..103877501-chr8:103909403..103912170,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253320	TF binding region
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6985891	1.00[YRI][hapmap]

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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:103894200-103914600	Weak transcription	Fetal Lung	lung
3	chr8:103907000-103911600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:103907200-103912800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:103907400-103915000	Weak transcription	Fetal Stomach	stomach
6	chr8:103907600-103922600	Weak transcription	Brain Germinal Matrix	brain
7	chr8:103907800-103922000	Weak transcription	Fetal Brain Female	brain
8	chr8:103907800-103922600	Weak transcription	Gastric	stomach
9	chr8:103908000-103913200	Weak transcription	Spleen	Spleen
10	chr8:103908800-103913000	Enhancers	Fetal Muscle Leg	muscle
11	chr8:103909000-103911800	Enhancers	Right Atrium	heart
12	chr8:103909000-103913400	Enhancers	Psoas Muscle	Psoas
13	chr8:103909200-103911800	Enhancers	Left Ventricle	heart
14	chr8:103909200-103918200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:103909400-103918600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:103910000-103911400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:103910000-103911400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr8:103910000-103911400	Enhancers	Brain Substantia Nigra	brain
19	chr8:103910000-103911600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:103910000-103911600	Enhancers	Brain Hippocampus Middle	brain
21	chr8:103910000-103912000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr8:103910000-103913000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:103910000-103914200	Enhancers	Fetal Thymus	thymus
24	chr8:103910200-103911400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:103910200-103911400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:103910200-103911600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:103910200-103911600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:103910200-103911600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:103910200-103911800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr8:103910200-103911800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr8:103910200-103911800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr8:103910200-103912000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:103910200-103913400	Enhancers	Thymus	Thymus
34	chr8:103910200-103915000	Weak transcription	Pancreas	Pancrea
35	chr8:103910400-103911400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr8:103910400-103911400	Enhancers	HMEC	breast
37	chr8:103910400-103911400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr8:103910400-103911600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr8:103910400-103911600	Enhancers	Fetal Heart	heart
40	chr8:103910400-103911800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr8:103910400-103911800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr8:103910400-103911800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:103910400-103911800	Flanking Active TSS	GM12878-XiMat	blood
44	chr8:103910600-103911400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:103910600-103911400	Enhancers	Right Ventricle	heart
46	chr8:103910600-103911400	Enhancers	HSMM	muscle
47	chr8:103910600-103911800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr8:103910600-103911800	Enhancers	Lung	lung
49	chr8:103910800-103911400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:103910800-103911400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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