Variant report

Variant	rs17117164
Chromosome Location	chr14:73007547-73007548
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:73007241..73009547-chr14:73013161..73015257,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10131083	0.83[AMR][1000 genomes]
rs10138138	1.00[CEU][hapmap]
rs1017082	1.00[CEU][hapmap]
rs11620663	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11621791	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs11622246	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11622509	0.87[AMR][1000 genomes]
rs11623039	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11623448	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11623449	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11626185	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11628539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11628659	0.89[EUR][1000 genomes]
rs11844952	1.00[CEU][hapmap]
rs17180712	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17180754	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]
rs1859475	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2023957	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2238171	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2238174	1.00[CEU][hapmap]
rs2238175	1.00[CEU][hapmap]
rs2238176	1.00[CEU][hapmap]
rs2286072	1.00[CEU][hapmap];0.92[GIH][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28788858	0.84[EUR][1000 genomes]
rs3784043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3784044	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs5008274	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7144560	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7161138	1.00[CEU][hapmap]
rs7161351	1.00[CEU][hapmap]
rs7493857	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8008812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009340	1.00[CEU][hapmap]
rs8009343	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs8010440	1.00[CEU][hapmap]

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	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
3	esv1843592	chr14:72967991-73007547	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72984400-73011000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:72999400-73009600	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:73000200-73010000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:73000200-73010000	Weak transcription	Right Ventricle	heart
5	chr14:73000800-73007800	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:73002200-73009800	Weak transcription	Brain Substantia Nigra	brain
7	chr14:73003000-73010800	Weak transcription	Fetal Brain Female	brain
8	chr14:73003400-73011000	Weak transcription	Spleen	Spleen
9	chr14:73004200-73009800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:73005200-73007800	Enhancers	Fetal Stomach	stomach
11	chr14:73005400-73007600	Enhancers	Fetal Muscle Leg	muscle
12	chr14:73006000-73007600	Enhancers	Primary B cells from cord blood	blood
13	chr14:73006200-73007600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr14:73006200-73010200	Weak transcription	Fetal Intestine Large	intestine
15	chr14:73006800-73010000	Weak transcription	Fetal Brain Male	brain
16	chr14:73007000-73007600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:73007000-73007800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:73007200-73007600	Enhancers	Ovary	ovary
19	chr14:73007200-73009600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:73007200-73009800	Weak transcription	Fetal Thymus	thymus
21	chr14:73007200-73011000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:73007200-73011200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:73007400-73009600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr14:73007400-73010000	Weak transcription	Fetal Lung	lung

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