Variant report

Variant	rs13275279
Chromosome Location	chr8:54708747-54708748
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	REST	chr8:54708369-54708768	H1-neurons	neurons:	n/a	n/a
2	NANOG	chr8:54708504-54708787	H1-hESC	embryonic stem cell:	n/a	chr8:54708557-54708568 chr8:54708627-54708636
3	RFX5	chr8:54708574-54708753	H1-hESC	embryonic stem cell:	n/a	n/a
4	NRF1	chr8:54708683-54708761	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54707662..54709513-chr8:54713902..54716199,2	K562	blood:

Variant related genes	Relation type
ATP6V1H	TF binding region
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10104229	1.00[ASN][1000 genomes]
rs10958392	1.00[LWK][hapmap]
rs11783925	1.00[ASN][1000 genomes]
rs12335066	1.00[ASN][1000 genomes]
rs12708158	1.00[ASN][1000 genomes]
rs13263467	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54655800-54726000	Weak transcription	Colonic Mucosa	Colon
2	chr8:54667800-54726200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:54681000-54726200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:54686400-54745800	Weak transcription	Psoas Muscle	Psoas
5	chr8:54687600-54711400	Weak transcription	NHDF-Ad	bronchial
6	chr8:54687600-54753600	Weak transcription	A549	lung
7	chr8:54687800-54712400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:54688000-54712000	Weak transcription	Spleen	Spleen
9	chr8:54688000-54712200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:54691800-54726400	Weak transcription	Stomach Mucosa	stomach
11	chr8:54698000-54710200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:54698200-54710400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr8:54698600-54712200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:54698600-54716000	Weak transcription	Fetal Heart	heart
15	chr8:54698800-54710000	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:54699200-54709400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:54699200-54709600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:54699200-54712000	Weak transcription	Pancreas	Pancrea
19	chr8:54699200-54720000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr8:54700000-54740400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:54700200-54709600	Weak transcription	HSMM	muscle
22	chr8:54700200-54709800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:54700200-54731600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr8:54700400-54714800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:54700800-54715200	Strong transcription	Dnd41	blood
26	chr8:54701000-54712600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:54701200-54710600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:54701800-54709200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:54702200-54710200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:54702600-54713800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:54702600-54714600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:54702800-54709200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:54702800-54710000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr8:54702800-54710200	Strong transcription	Fetal Thymus	thymus
35	chr8:54702800-54710400	Strong transcription	Primary T cells from cord blood	blood
36	chr8:54702800-54711000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:54703000-54715400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr8:54703000-54728000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:54703200-54710200	Strong transcription	Liver	Liver
40	chr8:54703200-54714800	Strong transcription	Primary B cells from cord blood	blood
41	chr8:54703400-54725200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:54703800-54710000	Strong transcription	HMEC	breast
43	chr8:54703800-54710200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr8:54704000-54710200	Strong transcription	GM12878-XiMat	blood
45	chr8:54704000-54721600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:54704200-54712000	Weak transcription	Fetal Lung	lung
47	chr8:54704400-54712000	Weak transcription	Aorta	Aorta
48	chr8:54704400-54712000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:54704400-54720000	Weak transcription	Brain Substantia Nigra	brain
50	chr8:54704600-54709600	Weak transcription	Lung	lung

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