Variant report

Variant	rs11158557
Chromosome Location	chr14:65153186-65153187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65148833..65151255-chr14:65153026..65155458,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10151495	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902306	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159445	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs910365	0.80[EUR][1000 genomes]
rs9671808	0.86[TSI][hapmap]

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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11158557	SIX6	cis	cerebellum	SCAN
rs11158557	FNTB	cis	lymphoblastoid	seeQTL
rs11158557	ZFYVE26	cis	parietal	SCAN
rs11158557	ZFYVE26	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65142600-65154400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr14:65146200-65153200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:65146600-65153200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:65147000-65155000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:65149000-65154200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr14:65149200-65155200	Weak transcription	Colonic Mucosa	Colon
7	chr14:65149400-65155000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:65149400-65155000	Weak transcription	Fetal Intestine Large	intestine
9	chr14:65149400-65159000	Weak transcription	Right Atrium	heart
10	chr14:65149400-65169400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:65149600-65153200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr14:65149600-65154600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:65149600-65155000	Weak transcription	Stomach Mucosa	stomach
14	chr14:65149600-65159200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:65149800-65153200	Enhancers	Brain Substantia Nigra	brain
16	chr14:65149800-65155000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:65150000-65153200	Enhancers	Brain Cingulate Gyrus	brain
18	chr14:65150000-65155000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr14:65150200-65155200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:65150200-65159000	Weak transcription	Right Ventricle	heart
21	chr14:65150400-65155200	Weak transcription	Esophagus	oesophagus
22	chr14:65150600-65153200	Enhancers	Fetal Stomach	stomach
23	chr14:65151200-65154800	Weak transcription	Fetal Intestine Small	intestine
24	chr14:65151200-65159600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:65151400-65155000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:65151400-65155000	Weak transcription	HMEC	breast
27	chr14:65151400-65155200	Weak transcription	Pancreas	Pancrea
28	chr14:65152000-65153200	Enhancers	Brain Angular Gyrus	brain
29	chr14:65152200-65153200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:65152200-65153200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr14:65152200-65153200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr14:65152400-65153200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:65152400-65153200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr14:65152400-65159200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:65152600-65153200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:65152600-65153200	Enhancers	Spleen	Spleen
37	chr14:65152800-65159000	Weak transcription	Brain Anterior Caudate	brain
38	chr14:65153000-65153200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr14:65153000-65153200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr14:65153000-65153200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr14:65153000-65153200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:65153000-65153200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:65153000-65153200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
44	chr14:65153000-65153200	Enhancers	Fetal Heart	heart
45	chr14:65153000-65153200	Flanking Active TSS	Fetal Kidney	kidney
46	chr14:65153000-65153200	Flanking Active TSS	Fetal Lung	lung
47	chr14:65153000-65155200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:65153000-65155600	Weak transcription	Fetal Thymus	thymus
49	chr14:65153000-65159000	Weak transcription	Brain Hippocampus Middle	brain
50	chr14:65153000-65160200	Weak transcription	Placenta	Placenta

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