Variant report

Variant	rs1455053
Chromosome Location	chr14:69821311-69821312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69821172..69826934-chr14:69835934..69842143,9	MCF-7	breast:
2	chr14:69820575..69822363-chr14:69824777..69827563,2	MCF-7	breast:
3	chr14:69800242..69802795-chr14:69820027..69823716,5	MCF-7	breast:
4	chr14:69821220..69824181-chr14:69864124..69866738,3	MCF-7	breast:
5	chr14:69819465..69821642-chr14:69923369..69926196,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100632	Chromatin interaction
ENSG00000029364	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10138313	0.81[JPT][hapmap]
rs10143593	0.81[JPT][hapmap]
rs1045301	0.89[LWK][hapmap]
rs11624577	0.81[JPT][hapmap]
rs12232173	0.89[JPT][hapmap]
rs12589991	0.89[JPT][hapmap]
rs12878175	0.81[JPT][hapmap]
rs12879303	0.89[JPT][hapmap];0.89[LWK][hapmap]
rs12884978	0.89[JPT][hapmap];0.84[YRI][hapmap]
rs12895620	0.81[JPT][hapmap]
rs17106973	0.89[JPT][hapmap];0.84[YRI][hapmap]
rs1958121	0.81[JPT][hapmap]
rs2124191	0.81[JPT][hapmap]
rs2296726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34862239	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36037391	0.93[ASN][1000 genomes]
rs3759771	0.81[JPT][hapmap]
rs45443301	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899295	0.81[JPT][hapmap]
rs4902717	0.81[JPT][hapmap]
rs7144886	0.89[JPT][hapmap]
rs7145781	0.89[JPT][hapmap]
rs7145944	0.81[JPT][hapmap]
rs7147710	0.81[JPT][hapmap]
rs8012954	0.81[JPT][hapmap]
rs8014890	0.81[JPT][hapmap]
rs8016781	0.81[JPT][hapmap]
rs959242	0.81[JPT][hapmap]

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	nsv456334	chr14:69793624-69831037	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv564966	chr14:69793624-69831037	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1455053	EXD2	cis	parietal	SCAN
rs1455053	C14orf50	cis	cerebellum	SCAN
rs1455053	SIPA1L1	cis	parietal	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69793400-69822600	Weak transcription	Brain Angular Gyrus	brain
2	chr14:69800800-69821800	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:69808600-69821600	Weak transcription	Brain Anterior Caudate	brain
4	chr14:69809800-69822800	Weak transcription	Right Atrium	heart
5	chr14:69810200-69821600	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:69810200-69822000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:69812200-69821600	Weak transcription	Aorta	Aorta
8	chr14:69815600-69838800	Weak transcription	Brain Germinal Matrix	brain
9	chr14:69816400-69821800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr14:69816400-69822200	Weak transcription	Right Ventricle	heart
11	chr14:69817200-69821800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:69817600-69822600	Weak transcription	Fetal Stomach	stomach
13	chr14:69817600-69823000	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:69818200-69821800	Weak transcription	Adipose Nuclei	Adipose
15	chr14:69818400-69822200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:69818400-69827400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:69818600-69842800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:69819000-69822400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:69819200-69822400	Weak transcription	Left Ventricle	heart
20	chr14:69820400-69823000	Enhancers	Primary B cells from cord blood	blood
21	chr14:69820600-69821400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:69820600-69821400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:69820600-69822000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:69820600-69822000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr14:69820600-69822800	Enhancers	Fetal Thymus	thymus
26	chr14:69820600-69823000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:69820800-69821600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr14:69820800-69821800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:69820800-69822000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr14:69820800-69822200	Enhancers	Esophagus	oesophagus
31	chr14:69820800-69823200	Enhancers	Fetal Muscle Leg	muscle
32	chr14:69820800-69823200	Weak transcription	Gastric	stomach
33	chr14:69821000-69821400	Active TSS	Rectal Smooth Muscle	rectum
34	chr14:69821000-69821600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr14:69821000-69821600	Enhancers	Brain Cingulate Gyrus	brain
36	chr14:69821000-69821600	Enhancers	NHEK	skin
37	chr14:69821000-69821800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:69821000-69821800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:69821000-69821800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:69821000-69821800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr14:69821000-69821800	Enhancers	Fetal Intestine Large	intestine
42	chr14:69821000-69821800	Enhancers	Fetal Intestine Small	intestine
43	chr14:69821000-69821800	Bivalent Enhancer	Stomach Mucosa	stomach
44	chr14:69821000-69821800	Enhancers	Thymus	Thymus
45	chr14:69821000-69822000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr14:69821000-69822200	Weak transcription	HSMMtube	muscle
47	chr14:69821000-69822400	Flanking Active TSS	GM12878-XiMat	blood
48	chr14:69821000-69823200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr14:69821000-69838800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:69821000-69839600	Weak transcription	Fetal Brain Female	brain

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