Variant report

Variant	rs11621265
Chromosome Location	chr14:55822095-55822096
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55766047..55767790-chr14:55821223..55823323,2	MCF-7	breast:
2	chr14:55820434..55823262-chr14:55823747..55828312,4	K562	blood:
3	chr14:55737428..55739982-chr14:55820352..55823007,3	K562	blood:
4	chr14:55737146..55740453-chr14:55819969..55824723,7	MCF-7	breast:
5	chr14:55736773..55740408-chr14:55819454..55822170,5	MCF-7	breast:
6	chr14:55809381..55811401-chr14:55819564..55823074,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258413	Chromatin interaction
ENSG00000178974	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10129505	0.95[JPT][hapmap]
rs10131562	0.94[JPT][hapmap]
rs10131730	0.95[JPT][hapmap]
rs10134213	0.99[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10134317	0.89[ASW][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.95[YRI][hapmap]
rs10134339	0.81[JPT][hapmap]
rs10136596	0.90[JPT][hapmap]
rs10137307	0.90[JPT][hapmap]
rs10140869	0.95[JPT][hapmap];0.95[YRI][hapmap]
rs10141396	1.00[ASW][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs10141552	0.95[JPT][hapmap]
rs10142448	0.95[JPT][hapmap]
rs10144418	1.00[ASW][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.84[MKK][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes]
rs10146637	0.95[JPT][hapmap];0.91[LWK][hapmap]
rs10150760	0.95[JPT][hapmap]
rs1045002	0.95[JPT][hapmap];0.95[YRI][hapmap]
rs1045004	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1109170	0.81[JPT][hapmap]
rs11158034	0.95[JPT][hapmap];0.95[YRI][hapmap]
rs11625001	0.95[JPT][hapmap]
rs11628437	0.95[JPT][hapmap]
rs11851169	0.95[JPT][hapmap]
rs1572611	0.95[JPT][hapmap];0.95[YRI][hapmap]
rs17674463	0.95[JPT][hapmap]
rs17674563	0.91[AFR][1000 genomes]
rs17740741	0.95[JPT][hapmap];0.95[YRI][hapmap]
rs17741542	0.95[JPT][hapmap];0.82[LWK][hapmap];0.81[MKK][hapmap];0.95[YRI][hapmap]
rs17741831	0.95[JPT][hapmap]
rs1972221	0.95[JPT][hapmap]
rs2009291	0.80[JPT][hapmap]
rs2026633	1.00[ASW][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs2209808	0.88[AFR][1000 genomes]
rs2880103	0.90[JPT][hapmap];0.91[LWK][hapmap]
rs3742569	0.95[JPT][hapmap]
rs3783650	0.81[JPT][hapmap]
rs3783651	0.89[JPT][hapmap]
rs3783652	0.95[JPT][hapmap]
rs3825616	0.81[JPT][hapmap]
rs4597235	0.85[JPT][hapmap]
rs58296156	0.93[AFR][1000 genomes]
rs6573017	0.81[JPT][hapmap]
rs7144737	0.95[JPT][hapmap]
rs7147136	0.91[AFR][1000 genomes]
rs7147247	0.95[JPT][hapmap];0.91[LWK][hapmap]
rs7150234	0.84[AFR][1000 genomes]
rs7150763	0.95[JPT][hapmap]
rs7151581	0.89[ASW][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.95[YRI][hapmap]
rs7152390	0.94[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes]
rs7153110	0.81[JPT][hapmap]
rs7154831	0.93[AFR][1000 genomes]
rs7154889	0.81[JPT][hapmap]
rs7155954	0.94[JPT][hapmap]
rs7158768	0.81[JPT][hapmap]
rs7158791	0.95[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7159144	0.81[JPT][hapmap]
rs7159824	0.95[JPT][hapmap];0.91[LWK][hapmap]
rs8005450	0.95[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs8006525	0.81[JPT][hapmap]
rs8013713	0.95[JPT][hapmap]
rs8014477	0.86[ASW][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap]
rs8014540	0.95[JPT][hapmap]
rs8015211	0.87[ASW][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap]
rs8021583	0.95[JPT][hapmap]
rs8023197	0.81[JPT][hapmap]
rs9323285	0.90[JPT][hapmap];0.91[LWK][hapmap]
rs946059	0.81[JPT][hapmap]
rs9919923	0.93[AFR][1000 genomes]
rs9919926	0.95[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes]
rs9919932	0.95[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv901957	chr14:55819219-55853724	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11621265	FBXO34	cis	cerebellum	SCAN
rs11621265	C14orf32	Cis_1M	lymphoblastoid	RTeQTL
rs11621265	WDHD1	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55800600-55823600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:55801200-55842800	Weak transcription	Fetal Brain Male	brain
3	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:55813600-55837200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:55814000-55830400	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:55814400-55853200	Weak transcription	Right Atrium	heart
7	chr14:55816000-55837200	Weak transcription	K562	blood
8	chr14:55816400-55823600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:55816600-55823000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr14:55817000-55822800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:55817200-55822800	Strong transcription	GM12878-XiMat	blood
12	chr14:55817200-55823000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:55817200-55823200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:55817200-55823200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:55817200-55823800	Strong transcription	Dnd41	blood
16	chr14:55817200-55826200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr14:55817200-55826400	Strong transcription	Fetal Stomach	stomach
18	chr14:55818000-55841800	Weak transcription	Hela-S3	cervix
19	chr14:55818200-55842800	Weak transcription	Brain Angular Gyrus	brain
20	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:55818400-55832400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr14:55818400-55858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:55818800-55842600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:55819000-55835200	Weak transcription	NH-A	brain
25	chr14:55819200-55831600	Weak transcription	Aorta	Aorta
26	chr14:55819200-55832400	Weak transcription	HUVEC	blood vessel
27	chr14:55819200-55835400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:55819200-55836400	Weak transcription	Ovary	ovary
29	chr14:55819200-55842800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:55819400-55822200	Weak transcription	Adipose Nuclei	Adipose
31	chr14:55819400-55823000	Weak transcription	HepG2	liver
32	chr14:55819400-55832200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:55819400-55832200	Weak transcription	Pancreas	Pancrea
34	chr14:55819400-55833400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:55819400-55847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:55819400-55850600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:55819400-55855200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr14:55819600-55822400	Weak transcription	Right Ventricle	heart
39	chr14:55819600-55824400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:55819600-55831800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr14:55819600-55832000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:55819600-55832200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:55819600-55832200	Weak transcription	Fetal Kidney	kidney
44	chr14:55819600-55832200	Weak transcription	Lung	lung
45	chr14:55819600-55832400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr14:55819600-55835400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr14:55819600-55836000	Weak transcription	Gastric	stomach
48	chr14:55819800-55822200	Weak transcription	Brain Hippocampus Middle	brain
49	chr14:55819800-55822200	Weak transcription	Fetal Brain Female	brain
50	chr14:55819800-55822400	Weak transcription	Thymus	Thymus

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