Variant report

Variant	rs17253633
Chromosome Location	chr14:55469917-55469918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55467897..55470459-chr14:55470545..55472401,2	MCF-7	breast:
2	chr14:55469641..55471195-chr14:55518209..55519946,2	K562	blood:
3	chr14:55468473..55471195-chr14:55518446..55520882,2	K562	blood:

Variant related genes	Relation type
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10140164	0.85[JPT][hapmap]
rs10143038	0.87[EUR][1000 genomes]
rs10149103	0.89[EUR][1000 genomes]
rs1107960	0.86[JPT][hapmap]
rs1107961	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11158028	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes]
rs11621165	0.95[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes]
rs11621177	0.89[EUR][1000 genomes]
rs11622128	0.86[CHB][hapmap]
rs11626396	0.93[EUR][1000 genomes]
rs11626816	0.84[CHB][hapmap]
rs11627884	0.84[CHB][hapmap]
rs11627963	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11629355	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11847771	0.95[CEU][hapmap];0.84[CHB][hapmap];0.89[EUR][1000 genomes]
rs11852045	0.89[EUR][1000 genomes]
rs17128052	0.95[CEU][hapmap];0.92[CHB][hapmap]
rs2147963	0.86[CHB][hapmap]
rs2878172	0.85[JPT][hapmap]
rs3759662	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3759663	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3759664	1.00[CEU][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes]
rs3783641	0.95[CEU][hapmap];0.84[CHB][hapmap];0.81[EUR][1000 genomes]
rs3783646	0.82[ASN][1000 genomes]
rs4335711	0.80[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs45459500	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55704705	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55726650	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55751189	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56188649	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56213135	0.90[EUR][1000 genomes]
rs57622454	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59074935	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60258834	0.90[EUR][1000 genomes]
rs61709472	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7147201	0.95[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs7153937	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs72713482	0.81[EUR][1000 genomes]
rs72715547	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72715552	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72715575	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006363	0.90[EUR][1000 genomes]
rs8007267	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes]
rs8008858	0.93[EUR][1000 genomes]
rs8010570	0.88[EUR][1000 genomes]
rs8011358	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8017210	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs8018688	0.87[EUR][1000 genomes]
rs8019390	0.86[JPT][hapmap]
rs8020545	0.86[JPT][hapmap]
rs8020798	0.89[CHB][hapmap]
rs8022453	0.95[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.90[EUR][1000 genomes]
rs8023187	0.92[JPT][hapmap]
rs878944	0.85[ASN][1000 genomes]
rs943913	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv976342	chr14:55468718-55474623	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17253633	C14orf32	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55411000-55477000	Weak transcription	Left Ventricle	heart
2	chr14:55418600-55492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:55419800-55480400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr14:55420000-55471600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:55421800-55481400	Weak transcription	Placenta	Placenta
6	chr14:55421800-55492800	Weak transcription	Aorta	Aorta
7	chr14:55422400-55492400	Weak transcription	Fetal Kidney	kidney
8	chr14:55424200-55476800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:55427200-55477400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr14:55428400-55471200	Weak transcription	Brain Germinal Matrix	brain
11	chr14:55428400-55471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:55429000-55492400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:55429600-55479000	Weak transcription	Fetal Brain Female	brain
14	chr14:55430400-55484000	Weak transcription	Lung	lung
15	chr14:55434000-55492800	Weak transcription	Primary B cells from cord blood	blood
16	chr14:55434200-55486800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr14:55437600-55483600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:55438600-55490200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:55439400-55485600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:55439400-55490200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:55439800-55479400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:55442200-55492800	Weak transcription	Fetal Intestine Large	intestine
23	chr14:55442600-55480600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr14:55443200-55471200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:55443200-55481200	Weak transcription	Pancreas	Pancrea
26	chr14:55443400-55492200	Weak transcription	NHLF	lung
27	chr14:55444000-55471800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:55444200-55480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:55446000-55471400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:55447400-55471400	Weak transcription	Ovary	ovary
31	chr14:55447800-55484600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:55450000-55479800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:55452200-55471400	Weak transcription	Brain Substantia Nigra	brain
34	chr14:55454000-55471600	Weak transcription	NHEK	skin
35	chr14:55454000-55474400	Weak transcription	NHDF-Ad	bronchial
36	chr14:55454200-55492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:55454400-55473800	Weak transcription	Adipose Nuclei	Adipose
38	chr14:55454800-55478800	Weak transcription	Fetal Brain Male	brain
39	chr14:55454800-55479000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:55455800-55479600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:55455800-55486600	Weak transcription	HepG2	liver
42	chr14:55458200-55471400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr14:55458400-55471400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:55458400-55471600	Weak transcription	Fetal Muscle Leg	muscle
45	chr14:55458400-55471600	Weak transcription	HUVEC	blood vessel
46	chr14:55458400-55477000	Weak transcription	Fetal Lung	lung
47	chr14:55458400-55492200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr14:55458400-55492200	Weak transcription	NH-A	brain
49	chr14:55460000-55471400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:55460800-55473800	Weak transcription	Brain Cingulate Gyrus	brain

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