Variant report

Variant	rs17180754
Chromosome Location	chr14:73011038-73011039
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	chr14:73004202..73006328-chr14:73010940..73013710,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10138138	1.00[CEU][hapmap]
rs1017082	1.00[CEU][hapmap]
rs11620663	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11621791	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs11622246	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11622509	0.87[AMR][1000 genomes]
rs11623039	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11623448	0.87[AMR][1000 genomes]
rs11623449	0.87[AMR][1000 genomes]
rs11626185	1.00[CEU][hapmap]
rs11628539	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11628659	0.92[EUR][1000 genomes]
rs11844952	1.00[CEU][hapmap]
rs17117164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17180712	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs1859475	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2023957	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2238171	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2238174	1.00[CEU][hapmap]
rs2238175	1.00[CEU][hapmap]
rs2238176	1.00[CEU][hapmap]
rs2286072	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs28788858	0.81[EUR][1000 genomes]
rs3784043	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.86[TSI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3784044	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs5008274	1.00[CEU][hapmap]
rs7144560	1.00[CEU][hapmap]
rs7161138	1.00[CEU][hapmap]
rs7161351	1.00[CEU][hapmap]
rs8008812	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8009340	1.00[CEU][hapmap]
rs8009343	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs8010440	1.00[CEU][hapmap]
rs8018733	1.00[LWK][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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:73007200-73011200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:73007800-73011200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:73009000-73016400	Enhancers	HSMMtube	muscle
4	chr14:73009400-73015600	Enhancers	HSMM	muscle
5	chr14:73009600-73011200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr14:73009600-73011600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr14:73009600-73016800	Enhancers	Fetal Muscle Leg	muscle
8	chr14:73009800-73011200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:73009800-73012400	Enhancers	Fetal Stomach	stomach
10	chr14:73009800-73013800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:73009800-73014800	Enhancers	Fetal Muscle Trunk	muscle
12	chr14:73009800-73015000	Enhancers	Primary B cells from peripheral blood	blood
13	chr14:73010000-73012800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:73010000-73012800	Enhancers	Fetal Lung	lung
15	chr14:73010000-73013600	Enhancers	Liver	Liver
16	chr14:73010000-73015400	Enhancers	Fetal Brain Male	brain
17	chr14:73010200-73011200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:73010200-73011200	Weak transcription	Brain Substantia Nigra	brain
19	chr14:73010200-73011200	Weak transcription	Left Ventricle	heart
20	chr14:73010200-73011400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr14:73010200-73011800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:73010200-73011800	Enhancers	Fetal Heart	heart
23	chr14:73010200-73012400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr14:73010200-73012400	Enhancers	Placenta	Placenta
25	chr14:73010200-73014400	Enhancers	Primary B cells from cord blood	blood
26	chr14:73010400-73011200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:73010400-73011800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:73010400-73012400	Weak transcription	Fetal Thymus	thymus
29	chr14:73010600-73012600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr14:73010600-73014800	Enhancers	Right Ventricle	heart
31	chr14:73010800-73011600	Enhancers	Fetal Intestine Large	intestine
32	chr14:73010800-73011800	Enhancers	Lung	lung
33	chr14:73010800-73012000	Enhancers	Fetal Kidney	kidney
34	chr14:73010800-73012200	Enhancers	Brain Cingulate Gyrus	brain
35	chr14:73010800-73012400	Enhancers	Brain Hippocampus Middle	brain
36	chr14:73010800-73012800	Enhancers	Esophagus	oesophagus
37	chr14:73010800-73012800	Enhancers	Ovary	ovary
38	chr14:73010800-73013000	Enhancers	NHEK	skin
39	chr14:73010800-73013200	Enhancers	HMEC	breast
40	chr14:73010800-73013600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr14:73010800-73013800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr14:73010800-73013800	Enhancers	Fetal Brain Female	brain
43	chr14:73011000-73011600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr14:73011000-73011800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:73011000-73012000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr14:73011000-73012200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr14:73011000-73012200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr14:73011000-73012200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:73011000-73012200	Enhancers	Brain Angular Gyrus	brain
50	chr14:73011000-73012200	Enhancers	Brain Inferior Temporal Lobe	brain

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