Variant report

Variant	rs28921378
Chromosome Location	chr8:107671899-107671900
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	UBTF	chr8:107671893-107672165	K562	blood:	n/a	n/a
2	POLR2A	chr8:107669142-107672076	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr8:107671825-107672263	K562	blood:	n/a	chr8:107671924-107671931
4	MAX	chr8:107671755-107672186	K562	blood:	n/a	chr8:107671924-107671931
5	MYC	chr8:107671333-107672116	MCF10A-Er-Src	breast:	n/a	chr8:107671924-107671931
6	MAX	chr8:107671899-107672030	K562	blood:	n/a	chr8:107671924-107671931
7	MYC	chr8:107671713-107672138	MCF10A-Er-Src	breast:	n/a	chr8:107671924-107671931
8	E2F4	chr8:107671719-107672059	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107670148..107672369-chr8:107708725..107710422,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253582	TF binding region
ENSG00000253676	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs28921382	1.00[ASW][hapmap]
rs28921392	0.86[AFR][1000 genomes]

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	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6342	chr8:107644092-107688898	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107668600-107672200	Active TSS	Rectal Smooth Muscle	rectum
2	chr8:107668800-107672000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr8:107669200-107672000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:107669200-107672000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr8:107669200-107672000	Active TSS	Right Ventricle	heart
6	chr8:107669200-107672600	Active TSS	Aorta	Aorta
7	chr8:107670400-107672400	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr8:107670600-107672000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:107670600-107672200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:107670600-107672600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr8:107670600-107672800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:107670800-107672000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr8:107670800-107672200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr8:107670800-107675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:107670800-107675800	Weak transcription	Spleen	Spleen
16	chr8:107670800-107685800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:107671000-107672000	Weak transcription	Gastric	stomach
18	chr8:107671000-107672200	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr8:107671000-107672200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:107671000-107672400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:107671000-107673000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:107671000-107675800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:107671200-107672000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:107671200-107672000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:107671200-107672000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:107671200-107672000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:107671200-107672000	Weak transcription	Esophagus	oesophagus
28	chr8:107671200-107672200	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:107671200-107672200	Enhancers	NH-A	brain
30	chr8:107671200-107672400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:107671200-107672400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:107671200-107672400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr8:107671200-107672400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr8:107671200-107672400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:107671200-107672400	Flanking Active TSS	Hela-S3	cervix
36	chr8:107671200-107672800	Enhancers	Fetal Heart	heart
37	chr8:107671200-107672800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr8:107671200-107673000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:107671200-107673000	Enhancers	Small Intestine	intestine
40	chr8:107671200-107673000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr8:107671200-107674200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:107671200-107674800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:107671200-107675800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr8:107671200-107675800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:107671200-107697200	Weak transcription	HSMM	muscle
46	chr8:107671400-107672000	Weak transcription	Stomach Mucosa	stomach
47	chr8:107671400-107672200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:107671400-107672200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:107671400-107672200	Enhancers	Lung	lung
50	chr8:107671400-107672200	Flanking Active TSS	NHEK	skin

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