Variant report

Variant	rs17116292
Chromosome Location	chr14:72946378-72946379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72946242..72947994-chr14:72951542..72953819,3	K562	blood:
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]
rs17116276	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72942200-72947600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr14:72942400-72947000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:72942800-72947800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:72943000-72947200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:72943000-72948400	Enhancers	Fetal Thymus	thymus
6	chr14:72943200-72946800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:72943200-72947000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:72943800-72946800	Enhancers	HSMMtube	muscle
9	chr14:72944000-72947400	Weak transcription	Fetal Heart	heart
10	chr14:72944000-72948400	Enhancers	Primary T cells from cord blood	blood
11	chr14:72944000-72949200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:72944000-72957600	Weak transcription	Left Ventricle	heart
13	chr14:72944200-72947400	Enhancers	Dnd41	blood
14	chr14:72944400-72946400	Weak transcription	Placenta	Placenta
15	chr14:72944400-72946800	Enhancers	Fetal Kidney	kidney
16	chr14:72944400-72947800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr14:72944800-72946400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:72944800-72946400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:72944800-72946400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:72944800-72947200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:72944800-72947400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr14:72944800-72947600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:72944800-72948000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:72945000-72947000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr14:72945000-72947200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:72945000-72947400	Weak transcription	Primary B cells from cord blood	blood
27	chr14:72945200-72946400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:72945200-72946400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr14:72945200-72947400	Enhancers	Brain Germinal Matrix	brain
30	chr14:72945400-72946600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:72945400-72946800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr14:72945400-72947000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:72945400-72947000	Enhancers	Fetal Muscle Trunk	muscle
34	chr14:72945400-72947200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr14:72945600-72946400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:72945600-72946800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr14:72945600-72947800	Enhancers	Fetal Lung	lung
38	chr14:72945800-72946400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:72945800-72946600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:72945800-72946800	Flanking Active TSS	GM12878-XiMat	blood
41	chr14:72945800-72947000	Enhancers	Fetal Muscle Leg	muscle
42	chr14:72945800-72948200	Enhancers	K562	blood
43	chr14:72945800-72948400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:72946000-72946600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:72946000-72946600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr14:72946000-72946800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr14:72946000-72947200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:72946000-72947600	Enhancers	Fetal Brain Male	brain
49	chr14:72946000-72947800	Enhancers	Fetal Brain Female	brain
50	chr14:72946000-72948400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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