Variant report

Variant	rs9972155
Chromosome Location	chr14:68021170-68021171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68015069..68017219-chr14:68019701..68021825,3	MCF-7	breast:
2	chr14:68011012..68013184-chr14:68020554..68022104,2	K562	blood:
3	chr14:67825650..67828725-chr14:68019356..68022032,3	K562	blood:
4	chr14:67980966..67982699-chr14:68018607..68021208,2	MCF-7	breast:
5	chr14:67998826..68001129-chr14:68019910..68022283,2	MCF-7	breast:
6	chr14:68014401..68017427-chr14:68018480..68021276,3	MCF-7	breast:
7	chr14:68019686..68022466-chr14:68023028..68024589,2	K562	blood:
8	chr14:68004052..68005607-chr14:68020967..68023715,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100554	Chromatin interaction
ENSG00000198133	Chromatin interaction
ENSG00000054690	Chromatin interaction
ENSG00000134001	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs17782224	0.86[CEU][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs2319842	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4902487	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67138363	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7155887	0.88[EUR][1000 genomes]
rs753683	0.91[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];0.88[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	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
rs9972155	ADAM20	cis	cerebellum	SCAN
rs9972155	PLEKHH1	cis	cerebellum	SCAN
rs9972155	FUT8	cis	parietal	SCAN
rs9972155	C14orf181	cis	cerebellum	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68000400-68044000	Weak transcription	Spleen	Spleen
2	chr14:68001000-68024400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:68001400-68028400	Weak transcription	Brain Germinal Matrix	brain
4	chr14:68001800-68023600	Weak transcription	HepG2	liver
5	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
6	chr14:68003200-68039800	Weak transcription	Fetal Kidney	kidney
7	chr14:68005600-68023600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:68005800-68042400	Weak transcription	NHEK	skin
9	chr14:68008800-68052200	Weak transcription	Left Ventricle	heart
10	chr14:68009000-68022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:68009000-68024800	Weak transcription	Gastric	stomach
12	chr14:68009000-68044800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:68009000-68050400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:68009200-68023800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:68009200-68024000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:68009200-68024600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:68009200-68040400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:68009200-68045200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:68010200-68036400	Weak transcription	Small Intestine	intestine
20	chr14:68011800-68045000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:68011800-68054600	Weak transcription	Hela-S3	cervix
22	chr14:68012000-68029200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:68012000-68033000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:68012000-68045000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:68012400-68025600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:68012400-68026200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:68012400-68028200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:68012400-68028600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:68012800-68026200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:68013200-68023600	Strong transcription	Fetal Intestine Small	intestine
31	chr14:68013400-68052600	Weak transcription	Aorta	Aorta
32	chr14:68014000-68024600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr14:68014400-68024800	Weak transcription	Esophagus	oesophagus
34	chr14:68014400-68036200	Weak transcription	Colonic Mucosa	Colon
35	chr14:68014800-68022600	Weak transcription	Placenta	Placenta
36	chr14:68016000-68033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:68016800-68025400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:68016800-68028800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:68017200-68023400	Weak transcription	HMEC	breast
40	chr14:68017800-68023000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:68018600-68042400	Weak transcription	Right Ventricle	heart
42	chr14:68019000-68022400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:68019200-68022000	Weak transcription	Fetal Intestine Large	intestine
44	chr14:68019200-68023600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:68019400-68021400	Genic enhancers	Brain Hippocampus Middle	brain
46	chr14:68019800-68021400	Genic enhancers	Brain Anterior Caudate	brain
47	chr14:68020200-68025000	Genic enhancers	Brain Inferior Temporal Lobe	brain
48	chr14:68020200-68027400	Genic enhancers	Brain Substantia Nigra	brain
49	chr14:68020400-68021200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:68020400-68021200	Genic enhancers	Brain Cingulate Gyrus	brain

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