Variant report

Variant	rs7147529
Chromosome Location	chr14:68011008-68011009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68010446..68012752-chr14:68015925..68018334,2	K562	blood:
2	chr14:68004825..68008195-chr14:68010390..68013765,5	MCF-7	breast:
3	chr14:67998037..68001825-chr14:68010687..68017336,14	MCF-7	breast:
4	chr14:68009818..68011946-chr14:68016473..68018334,2	K562	blood:
5	chr14:67999033..68001548-chr14:68008899..68011774,3	K562	blood:

Variant related genes	Relation type
ENSG00000198133	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10873205	0.84[ASW][hapmap];0.83[YRI][hapmap]
rs11158681	0.96[CEU][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11158682	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11158683	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11158684	0.96[CEU][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12434659	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2064929	0.87[CEU][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4144498	0.82[GIH][hapmap];0.84[MEX][hapmap];0.93[YRI][hapmap]
rs4902478	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4902479	0.83[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4902482	0.96[CEU][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4902483	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902484	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4902486	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6573780	0.87[CEU][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7154636	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7155887	0.85[EUR][1000 genomes]
rs731681	0.87[GIH][hapmap];0.84[MEX][hapmap]
rs753683	0.84[CEU][hapmap]

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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7147529	C14orf181	cis	cerebellum	SCAN
rs7147529	PLEKHH1	cis	cerebellum	SCAN
rs7147529	FUT8	cis	parietal	SCAN
rs7147529	ADAM20	cis	cerebellum	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68000400-68044000	Weak transcription	Spleen	Spleen
2	chr14:68000800-68011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:68000800-68013000	Weak transcription	A549	lung
4	chr14:68001000-68024400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:68001400-68028400	Weak transcription	Brain Germinal Matrix	brain
6	chr14:68001800-68023600	Weak transcription	HepG2	liver
7	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
8	chr14:68003200-68039800	Weak transcription	Fetal Kidney	kidney
9	chr14:68005400-68018200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:68005600-68023600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:68005800-68042400	Weak transcription	NHEK	skin
12	chr14:68006200-68011200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr14:68008200-68011200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:68008600-68011200	Genic enhancers	Brain Hippocampus Middle	brain
15	chr14:68008800-68011200	Strong transcription	Fetal Brain Female	brain
16	chr14:68008800-68012200	Strong transcription	Placenta	Placenta
17	chr14:68008800-68013400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:68008800-68013800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:68008800-68052200	Weak transcription	Left Ventricle	heart
20	chr14:68009000-68011600	Genic enhancers	Brain Substantia Nigra	brain
21	chr14:68009000-68013800	Weak transcription	Pancreas	Pancrea
22	chr14:68009000-68016400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr14:68009000-68022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:68009000-68024800	Weak transcription	Gastric	stomach
25	chr14:68009000-68044800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:68009000-68050400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr14:68009200-68012200	Weak transcription	K562	blood
28	chr14:68009200-68014000	Weak transcription	Fetal Stomach	stomach
29	chr14:68009200-68016400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:68009200-68020200	Weak transcription	Stomach Mucosa	stomach
31	chr14:68009200-68023800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:68009200-68024000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:68009200-68024600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:68009200-68040400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr14:68009200-68045200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:68009400-68012400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:68009600-68011600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:68009600-68013600	Weak transcription	Colonic Mucosa	Colon
39	chr14:68009800-68011600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:68009800-68012800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:68009800-68014000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr14:68010000-68011200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:68010000-68012400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:68010000-68012400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:68010200-68012000	Strong transcription	Fetal Intestine Large	intestine
46	chr14:68010200-68012200	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr14:68010200-68013400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:68010200-68014000	Strong transcription	Brain Angular Gyrus	brain
49	chr14:68010200-68036400	Weak transcription	Small Intestine	intestine
50	chr14:68010400-68011200	Weak transcription	Duodenum Mucosa	Duodenum

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