Variant report

Variant	rs17116276
Chromosome Location	chr14:72944106-72944107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72942498..72946263-chr14:72947951..72951671,4	MCF-7	breast:
2	chr14:72942083..72944144-chr14:72945071..72947674,2	K562	blood:
3	chr14:72935777..72938192-chr14:72944033..72947024,3	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1004477	1.00[CEU][hapmap]
rs10145775	1.00[CEU][hapmap]
rs1548688	1.00[JPT][hapmap]
rs17115503	1.00[CEU][hapmap]
rs17115530	1.00[CEU][hapmap]
rs17115684	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17115708	1.00[CEU][hapmap]
rs17115950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17116023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17116029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17116069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17116212	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs17116237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17116292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17116396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17116464	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2238178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2238190	1.00[CEU][hapmap]
rs2239211	1.00[CEU][hapmap]
rs3784046	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs45601334	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56884598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59189869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59884363	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61303255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs740536	1.00[CEU][hapmap]
rs8022670	1.00[CEU][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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72919400-72945200	Weak transcription	Brain Germinal Matrix	brain
2	chr14:72923800-72946200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:72936000-72946200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:72940400-72946000	Weak transcription	Fetal Brain Female	brain
5	chr14:72942200-72947600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:72942400-72947000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:72942600-72945800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:72942800-72944200	Flanking Active TSS	Dnd41	blood
9	chr14:72942800-72944400	Enhancers	Thymus	Thymus
10	chr14:72942800-72945200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:72942800-72947800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:72943000-72944200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr14:72943000-72944200	Enhancers	HSMM	muscle
14	chr14:72943000-72944400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr14:72943000-72944400	Enhancers	Placenta	Placenta
16	chr14:72943000-72944800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr14:72943000-72945000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:72943000-72945000	Enhancers	Primary hematopoietic stem cells	blood
19	chr14:72943000-72945600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:72943000-72947200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:72943000-72948400	Enhancers	Fetal Thymus	thymus
22	chr14:72943200-72944200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr14:72943200-72944200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr14:72943200-72944200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:72943200-72944200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:72943200-72944200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:72943200-72944200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr14:72943200-72945600	Enhancers	Primary B cells from peripheral blood	blood
29	chr14:72943200-72946800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr14:72943200-72947000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr14:72943400-72944200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr14:72943400-72944200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:72943400-72944200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:72943400-72944400	Enhancers	Primary B cells from cord blood	blood
35	chr14:72943600-72944200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr14:72943600-72944200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr14:72943600-72945200	Weak transcription	K562	blood
38	chr14:72943600-72945400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:72943800-72944200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr14:72943800-72944200	Flanking Active TSS	GM12878-XiMat	blood
41	chr14:72943800-72944200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr14:72943800-72944200	Enhancers	NH-A	brain
43	chr14:72943800-72944800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:72943800-72945000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr14:72943800-72945200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:72943800-72945400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:72943800-72945400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr14:72943800-72946800	Enhancers	HSMMtube	muscle
49	chr14:72944000-72944400	Weak transcription	Fetal Kidney	kidney
50	chr14:72944000-72944400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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