Variant report

Variant	rs10145268
Chromosome Location	chr14:55504514-55504515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55492686..55497311-chr14:55504038..55508134,4	MCF-7	breast:
2	chr14:55504146..55506506-chr14:55507978..55510935,2	K562	blood:
3	chr14:55500498..55503547-chr14:55504046..55507055,3	K562	blood:

Variant related genes	Relation type
ENSG00000198554	Chromatin interaction
ENSG00000180008	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1002054	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10135721	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10140164	0.81[JPT][hapmap]
rs10145170	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10220693	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1107960	0.80[JPT][hapmap]
rs11849090	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11849878	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11849961	0.92[CEU][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs11851178	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1187876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1187877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1187878	0.93[CHB][hapmap];0.92[CHD][hapmap];0.87[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1187881	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1187882	0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs1187883	0.84[CEU][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1201378	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1209087	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13379159	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17128120	0.87[JPT][hapmap]
rs17128128	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17128132	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[JPT][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17128145	1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs17832311	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1952085	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2147964	0.81[CEU][hapmap]
rs2251366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2340921	0.81[CEU][hapmap]
rs2878172	0.81[JPT][hapmap]
rs2878174	0.87[JPT][hapmap]
rs3742564	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.90[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4335711	0.81[JPT][hapmap]
rs56262555	0.82[EUR][1000 genomes]
rs56725788	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60805089	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6572999	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6573000	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7141975	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7144652	0.92[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7146285	0.87[JPT][hapmap]
rs7149965	1.00[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7150145	1.00[CHB][hapmap];0.87[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7151224	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7151431	0.89[ASN][1000 genomes]
rs7153937	0.81[JPT][hapmap]
rs7161656	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs748017	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8004416	0.82[EUR][1000 genomes]
rs8005399	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8008134	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[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];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012152	0.87[JPT][hapmap]
rs8012156	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs8012676	0.81[EUR][1000 genomes]
rs8019390	0.81[JPT][hapmap]
rs8019978	0.81[CEU][hapmap];0.93[TSI][hapmap]
rs8020545	0.81[JPT][hapmap]
rs8021929	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8022049	0.87[JPT][hapmap]
rs8022238	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8022405	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323278	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9806049	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10145268	FBXO34	cis	cerebellum	SCAN
rs10145268	WDHD1	cis	parietal	SCAN
rs10145268	MUDENG	cis	parietal	SCAN
rs10145268	ATG14	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55494400-55509800	Weak transcription	Spleen	Spleen
2	chr14:55494400-55517600	Weak transcription	Lung	lung
3	chr14:55494600-55509800	Weak transcription	Gastric	stomach
4	chr14:55495000-55509800	Weak transcription	Ovary	ovary
5	chr14:55495000-55517600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:55495000-55517600	Weak transcription	Esophagus	oesophagus
7	chr14:55495200-55504800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:55495200-55504800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:55495200-55507600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:55495200-55509800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr14:55495200-55510400	Weak transcription	Psoas Muscle	Psoas
12	chr14:55495200-55517600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:55495200-55517600	Weak transcription	Colonic Mucosa	Colon
14	chr14:55495200-55517800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:55495200-55517800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:55495400-55509800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:55495400-55517600	Weak transcription	Right Ventricle	heart
18	chr14:55495600-55505400	Weak transcription	Fetal Stomach	stomach
19	chr14:55495600-55509800	Weak transcription	Aorta	Aorta
20	chr14:55495600-55509800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:55495600-55509800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:55495600-55510000	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:55495600-55510000	Weak transcription	Fetal Brain Female	brain
24	chr14:55495600-55517600	Weak transcription	Brain Substantia Nigra	brain
25	chr14:55495600-55517600	Weak transcription	Fetal Kidney	kidney
26	chr14:55495600-55517600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:55495800-55505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:55496000-55509800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:55496000-55510400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr14:55496200-55505000	Weak transcription	Stomach Mucosa	stomach
31	chr14:55496200-55509800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:55496200-55509800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr14:55496200-55509800	Weak transcription	NHLF	lung
34	chr14:55496200-55510000	Weak transcription	Brain Anterior Caudate	brain
35	chr14:55496200-55510400	Weak transcription	Brain Germinal Matrix	brain
36	chr14:55496200-55510400	Weak transcription	Fetal Lung	lung
37	chr14:55496200-55517600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:55496200-55517600	Weak transcription	Fetal Heart	heart
39	chr14:55496400-55510000	Weak transcription	Liver	Liver
40	chr14:55496400-55510000	Weak transcription	Fetal Brain Male	brain
41	chr14:55496800-55509600	Weak transcription	Thymus	Thymus
42	chr14:55496800-55510000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr14:55496800-55510000	Weak transcription	Brain Angular Gyrus	brain
44	chr14:55496800-55510200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr14:55496800-55512600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr14:55497000-55505200	Weak transcription	NHEK	skin
47	chr14:55498200-55504800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:55498400-55504800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:55498400-55505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr14:55498400-55505000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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