Variant report

Variant	rs72717751
Chromosome Location	chr14:55863198-55863199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55863036..55866300-chr14:55870450..55873492,4	K562	blood:
2	chr14:55862301..55864393-chr14:55864806..55866499,2	K562	blood:
3	chr14:55851517..55854050-chr14:55862955..55864558,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17672376	1.00[ASN][1000 genomes]
rs17672950	1.00[ASN][1000 genomes]
rs17673930	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17675052	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17740413	1.00[ASN][1000 genomes]
rs17741681	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17741825	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17742621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35070799	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41299199	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60505634	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717708	0.82[AFR][1000 genomes]
rs72717745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717754	0.88[AFR][1000 genomes]
rs72717756	0.94[AFR][1000 genomes]
rs72717759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
4	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:55821400-55865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:55836800-55877800	Weak transcription	Esophagus	oesophagus
5	chr14:55848600-55876600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:55848800-55864600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:55848800-55865000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:55849200-55876600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:55849200-55878000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:55849800-55865200	Weak transcription	A549	lung
11	chr14:55850000-55868400	Weak transcription	Right Ventricle	heart
12	chr14:55850800-55865400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:55850800-55865400	Weak transcription	Aorta	Aorta
14	chr14:55851000-55871000	Weak transcription	Pancreas	Pancrea
15	chr14:55852000-55877200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:55852400-55865400	Weak transcription	Colonic Mucosa	Colon
17	chr14:55852800-55865200	Weak transcription	NHEK	skin
18	chr14:55853000-55865200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:55853000-55877200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:55853600-55865600	Weak transcription	Fetal Kidney	kidney
21	chr14:55854000-55868400	Weak transcription	Gastric	stomach
22	chr14:55854200-55866400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:55854200-55871000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:55854400-55865400	Weak transcription	Brain Substantia Nigra	brain
25	chr14:55854800-55878000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:55855400-55865200	Weak transcription	HMEC	breast
27	chr14:55855800-55865200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:55855800-55865400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:55856000-55865200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:55856000-55865200	Weak transcription	Brain Angular Gyrus	brain
31	chr14:55856200-55865200	Weak transcription	NH-A	brain
32	chr14:55856200-55865600	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:55856200-55865800	Weak transcription	HSMMtube	muscle
34	chr14:55856200-55868600	Weak transcription	Psoas Muscle	Psoas
35	chr14:55856200-55876200	Weak transcription	Fetal Brain Male	brain
36	chr14:55856200-55878000	Weak transcription	Spleen	Spleen
37	chr14:55856400-55865400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:55856400-55870400	Weak transcription	GM12878-XiMat	blood
39	chr14:55856400-55876800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:55856400-55877600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:55856600-55869800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr14:55856600-55876600	Weak transcription	Fetal Brain Female	brain
43	chr14:55856800-55863800	Weak transcription	NHDF-Ad	bronchial
44	chr14:55856800-55864800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:55856800-55865000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr14:55856800-55865000	Weak transcription	NHLF	lung
47	chr14:55856800-55865200	Weak transcription	Osteobl	bone
48	chr14:55856800-55865400	Weak transcription	K562	blood
49	chr14:55856800-55875600	Weak transcription	Dnd41	blood
50	chr14:55856800-55877200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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