Variant report

Variant	rs1256148
Chromosome Location	chr14:64933355-64933356
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	CEBPB	chr14:64932818-64933462	K562	blood:	n/a	n/a
2	CEBPB	chr14:64932657-64933409	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:64921748..64924792-chr14:64932173..64936095,3	K562	blood:
2	chr14:64803906..64806572-chr14:64931229..64934369,3	MCF-7	breast:
3	chr14:64930172..64935199-chr14:64969400..64972494,10	MCF-7	breast:
4	chr14:64930505..64934030-chr14:64968774..64972974,8	MCF-7	breast:

Variant related genes	Relation type
AKAP5	TF binding region
ENSG00000214770	Chromatin interaction
ENSG00000140009	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000100714	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10431708	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1063391	0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs11848114	0.91[JPT][hapmap]
rs12432891	0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs1256146	1.00[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1256147	0.85[EUR][1000 genomes]
rs1256150	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1453005	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2045022	0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs2100362	0.84[JPT][hapmap]
rs2123463	1.00[JPT][hapmap]
rs2218994	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap];0.85[EUR][1000 genomes]
rs34616731	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4313734	0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs4902288	0.84[EUR][1000 genomes]
rs7145155	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7149152	0.87[GIH][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs7151628	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7151976	1.00[JPT][hapmap]
rs7154937	1.00[JPT][hapmap]
rs7156953	0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs8011038	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs8016361	0.87[GIH][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs8022447	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902022	chr14:64926581-64958638	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1256148	FUT8	cis	parietal	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64928200-64948000	Weak transcription	Hela-S3	cervix
2	chr14:64931600-64933400	Active TSS	Brain Germinal Matrix	brain
3	chr14:64931600-64933400	Active TSS	Fetal Intestine Large	intestine
4	chr14:64931800-64933400	Active TSS	Brain Cingulate Gyrus	brain
5	chr14:64931800-64933400	Active TSS	Brain Hippocampus Middle	brain
6	chr14:64931800-64933400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:64931800-64933400	Active TSS	Fetal Brain Male	brain
8	chr14:64931800-64933400	Active TSS	Fetal Stomach	stomach
9	chr14:64931800-64933600	Active TSS	Brain Angular Gyrus	brain
10	chr14:64931800-64934000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr14:64931800-64934200	Active TSS	Brain Anterior Caudate	brain
12	chr14:64932400-64933400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr14:64932400-64933400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr14:64932400-64933400	Flanking Active TSS	GM12878-XiMat	blood
15	chr14:64932600-64934200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr14:64932800-64933400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr14:64932800-64933400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr14:64932800-64933400	Flanking Active TSS	Fetal Kidney	kidney
19	chr14:64932800-64934400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
20	chr14:64932800-64935200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:64933000-64933400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr14:64933000-64933400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
23	chr14:64933000-64933400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr14:64933000-64933400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:64933000-64933400	Enhancers	Thymus	Thymus
26	chr14:64933000-64933400	Enhancers	A549	lung
27	chr14:64933000-64933400	Enhancers	HepG2	liver
28	chr14:64933000-64933800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr14:64933000-64934000	Weak transcription	Liver	Liver
30	chr14:64933000-64934400	Enhancers	Adipose Nuclei	Adipose
31	chr14:64933000-64935000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:64933000-64935600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr14:64933000-64935600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr14:64933000-64944400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr14:64933000-64946000	Weak transcription	Left Ventricle	heart
36	chr14:64933000-64946600	Weak transcription	Fetal Thymus	thymus
37	chr14:64933000-64951000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:64933000-64951000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:64933000-64951600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:64933000-64951800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:64933000-64952000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:64933000-64953400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:64933000-64953600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:64933000-64953600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:64933000-64953600	Weak transcription	Lung	lung
46	chr14:64933000-64953600	Weak transcription	Ovary	ovary
47	chr14:64933000-64953600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr14:64933000-64953600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:64933000-64953600	Weak transcription	HSMM	muscle
50	chr14:64933000-64953600	Weak transcription	NHLF	lung

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