Variant report

Variant	rs10133562
Chromosome Location	chr14:81732758-81732759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81730236..81733765-chr14:81735324..81738162,3	K562	blood:
2	chr14:81684377..81689943-chr14:81728055..81734631,10	K562	blood:
3	chr14:81727889..81730386-chr14:81731826..81734332,3	MCF-7	breast:
4	chr14:81684348..81690583-chr14:81729061..81738251,32	MCF-7	breast:
5	chr14:81683224..81690294-chr14:81730621..81737433,21	MCF-7	breast:
6	chr14:81684594..81689943-chr14:81730721..81738333,8	K562	blood:
7	chr14:81728442..81730131-chr14:81732083..81734711,2	K562	blood:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10149681	0.82[CHB][hapmap];0.82[CHD][hapmap]
rs10483975	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11621116	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11625861	0.84[CHD][hapmap]
rs12147118	0.82[CHD][hapmap]
rs17111601	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1957546	0.87[CHB][hapmap];0.80[CHD][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap]
rs2241621	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2241622	0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899786	0.95[MEX][hapmap];0.83[TSI][hapmap]
rs6574634	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142641	0.84[CEU][hapmap];0.82[CHD][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap]
rs7148100	0.82[CHD][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap]
rs7149103	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7149294	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7149672	0.82[CHD][hapmap]
rs7160599	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7161073	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72695758	0.80[ASN][1000 genomes]
rs8007595	0.93[ASN][1000 genomes]
rs8007841	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs8009696	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8009888	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8014406	0.82[CHD][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap]
rs8015423	0.89[CHD][hapmap]
rs9806020	0.87[CHB][hapmap];0.82[CHD][hapmap]
rs9806027	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs9944085	0.87[CHB][hapmap];0.89[CHD][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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10133562	C14orf4	cis	parietal	SCAN
rs10133562	ADCK1	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81714200-81738600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:81714400-81734000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:81719800-81735600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr14:81721200-81735600	Weak transcription	Brain Anterior Caudate	brain
5	chr14:81721200-81742400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:81721400-81739800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:81721600-81733400	Weak transcription	K562	blood
8	chr14:81721600-81739800	Weak transcription	Ovary	ovary
9	chr14:81722600-81741800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:81723000-81734200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr14:81723400-81734000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:81723400-81734200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:81724400-81735400	Weak transcription	Fetal Intestine Large	intestine
14	chr14:81724600-81736400	Weak transcription	Fetal Intestine Small	intestine
15	chr14:81724600-81741800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:81724600-81746000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:81724800-81736400	Weak transcription	Spleen	Spleen
18	chr14:81725000-81739800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:81725000-81740000	Weak transcription	Esophagus	oesophagus
20	chr14:81725000-81743600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:81725600-81734000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:81725600-81734400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:81725800-81734200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:81725800-81734200	Strong transcription	NHEK	skin
25	chr14:81726400-81733800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:81726400-81734200	Weak transcription	Placenta	Placenta
27	chr14:81726800-81736600	Weak transcription	Brain Substantia Nigra	brain
28	chr14:81727600-81736800	Weak transcription	Psoas Muscle	Psoas
29	chr14:81727800-81734200	Weak transcription	Fetal Muscle Leg	muscle
30	chr14:81727800-81746200	Weak transcription	NHDF-Ad	bronchial
31	chr14:81728000-81736600	Weak transcription	Fetal Brain Male	brain
32	chr14:81728200-81734200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:81729000-81735800	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:81729400-81752600	Weak transcription	Stomach Mucosa	stomach
35	chr14:81730600-81734000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:81730600-81734200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr14:81730600-81734200	Weak transcription	HMEC	breast
38	chr14:81730600-81743000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:81730600-81744000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr14:81730800-81733000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:81730800-81733800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:81730800-81735600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:81730800-81740000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr14:81730800-81743600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:81731200-81733200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:81731200-81734000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:81731600-81739200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:81731800-81733000	Enhancers	Fetal Thymus	thymus
49	chr14:81731800-81733800	Enhancers	Dnd41	blood
50	chr14:81732000-81733000	Enhancers	Primary hematopoietic stem cells	blood

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