Variant report

Variant	rs11625365
Chromosome Location	chr14:77908588-77908589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77906551..77909013-chr14:77909265..77912067,3	K562	blood:
2	chr14:77901715..77909086-chr14:77922032..77926412,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151445	Chromatin interaction
ENSG00000100591	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10133896	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10431633	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10431634	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10431726	0.81[AMR][1000 genomes]
rs1061629	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1061638	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11159258	0.90[EUR][1000 genomes]
rs11159259	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11159261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11159262	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11159263	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11159264	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11622359	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11622832	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11623826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624068	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11624200	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11624990	0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.87[TSI][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11625129	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11627016	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11627385	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11844594	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.84[EUR][1000 genomes]
rs12101153	0.83[EUR][1000 genomes]
rs12432247	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12433766	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12435136	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs12436593	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12590773	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12878121	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12879316	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12885869	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886224	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12889722	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13379432	0.87[CHD][hapmap]
rs147316	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176766	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs176767	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs176768	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs176772	0.90[EUR][1000 genomes]
rs176773	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176778	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs176781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17824034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs17824214	0.85[CHD][hapmap]
rs17824316	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2063997	0.87[CHD][hapmap]
rs2091916	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2193595	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.84[EUR][1000 genomes]
rs2242619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364156	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35881785	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4369582	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4575469	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4899652	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs4899654	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4899655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903576	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs4903577	0.84[EUR][1000 genomes]
rs4903579	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs4903580	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs4903583	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903584	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903586	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6574372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66466131	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67344054	0.83[EUR][1000 genomes]
rs7142380	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7146595	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7146784	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7150718	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7155063	0.87[CHD][hapmap]
rs7250	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs760257	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8005759	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8006688	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8016070	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8016576	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017215	0.87[CHD][hapmap]
rs8018513	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8018711	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8018808	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs963283	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11625365	C14orf148	cis	parietal	SCAN
rs11625365	AHSA1	cis	parietal	SCAN
rs11625365	RPS6KL1	cis	cerebellum	SCAN
rs11625365	C14orf148	cis	cerebellum	SCAN
rs11625365	ESRRB	cis	cerebellum	SCAN
rs11625365	C14orf174	cis	parietal	SCAN
rs11625365	TMED8	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77887000-77919800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:77887000-77920400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr14:77887200-77910800	Strong transcription	Primary B cells from cord blood	blood
4	chr14:77887200-77920200	Strong transcription	Placenta	Placenta
5	chr14:77887200-77920600	Strong transcription	Primary T cells from cord blood	blood
6	chr14:77887400-77920000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:77887400-77920400	Strong transcription	Liver	Liver
8	chr14:77887600-77913000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:77887600-77920000	Strong transcription	Fetal Intestine Large	intestine
10	chr14:77887800-77920000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:77888000-77920000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:77888200-77920400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr14:77888400-77920000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:77888600-77920000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:77888600-77920600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:77889200-77920400	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr14:77889600-77920400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:77891600-77923200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr14:77893000-77910800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:77894200-77923000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:77895600-77908600	Weak transcription	Small Intestine	intestine
22	chr14:77896000-77908600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:77896200-77915800	Weak transcription	Hela-S3	cervix
24	chr14:77896200-77923200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:77897400-77920600	Strong transcription	Osteobl	bone
26	chr14:77897800-77908800	Weak transcription	Stomach Mucosa	stomach
27	chr14:77898400-77910000	Strong transcription	Brain Anterior Caudate	brain
28	chr14:77900800-77908600	Weak transcription	Fetal Brain Male	brain
29	chr14:77901800-77923000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr14:77904000-77908600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:77904000-77920600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:77905000-77919800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:77905000-77919800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr14:77905200-77911000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:77905200-77913200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:77905400-77912200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:77905400-77920600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:77905600-77910800	Strong transcription	Primary hematopoietic stem cells	blood
39	chr14:77905800-77910400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:77905800-77910800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr14:77905800-77911200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr14:77905800-77911200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr14:77905800-77912400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr14:77905800-77914600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:77905800-77915400	Strong transcription	Fetal Intestine Small	intestine
46	chr14:77905800-77918400	Strong transcription	Fetal Muscle Leg	muscle
47	chr14:77905800-77918400	Strong transcription	Lung	lung
48	chr14:77905800-77919800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr14:77905800-77919800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr14:77905800-77920000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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