Variant report

Variant	rs72714451
Chromosome Location	chr14:65944392-65944393
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65929743..65931722-chr14:65943733..65946479,2	K562	blood:
2	chr14:65942071..65945290-chr14:65946975..65950511,4	K562	blood:
3	chr14:65939143..65941360-chr14:65944171..65946687,3	MCF-7	breast:
4	chr14:65904341..65906356-chr14:65944065..65946546,2	K562	blood:
5	chr14:65904077..65906399-chr14:65944065..65947106,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10483778	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483782	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17181339	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17779103	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712476	1.00[AFR][1000 genomes]
rs72714446	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72714463	1.00[EUR][1000 genomes]
rs72714470	1.00[ASN][1000 genomes]
rs72716405	1.00[EUR][1000 genomes]
rs72716412	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65923400-65945000	Weak transcription	NHDF-Ad	bronchial
2	chr14:65928600-65949400	Weak transcription	Psoas Muscle	Psoas
3	chr14:65929800-65944800	Weak transcription	NH-A	brain
4	chr14:65929800-65945400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:65931400-65966200	Weak transcription	Aorta	Aorta
6	chr14:65934000-65944400	Weak transcription	HMEC	breast
7	chr14:65936600-65957400	Weak transcription	Primary B cells from cord blood	blood
8	chr14:65937200-65949600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:65937400-65944800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:65937400-65961600	Weak transcription	Fetal Intestine Large	intestine
11	chr14:65937600-65949600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:65937800-65944400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:65937800-65946000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:65938000-65952000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:65938200-65944800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:65938400-65945000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr14:65938400-65963400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:65938600-65949600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:65938800-65952000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:65939000-65946200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:65939000-65949000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:65939000-65949200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:65939000-65969400	Weak transcription	Dnd41	blood
24	chr14:65939200-65944400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr14:65939200-65945000	Weak transcription	Brain Substantia Nigra	brain
26	chr14:65939200-65945200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:65939200-65945400	Weak transcription	Brain Germinal Matrix	brain
28	chr14:65939200-65949400	Weak transcription	Ovary	ovary
29	chr14:65940000-65949400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:65940600-65959400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr14:65942000-65945400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:65942400-65946000	Enhancers	GM12878-XiMat	blood
33	chr14:65942400-65946200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr14:65942600-65946000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:65942600-65946400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:65942600-65949600	Weak transcription	Fetal Intestine Small	intestine
37	chr14:65942800-65944800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:65942800-65945200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:65942800-65946600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr14:65942800-65946600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr14:65943000-65944800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:65943200-65944600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:65943200-65944800	Weak transcription	Brain Angular Gyrus	brain
44	chr14:65943200-65946400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr14:65943200-65951800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:65943400-65944400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr14:65943400-65945000	Weak transcription	Stomach Mucosa	stomach
48	chr14:65943400-65945600	Weak transcription	Brain Anterior Caudate	brain
49	chr14:65943600-65947600	Weak transcription	Small Intestine	intestine
50	chr14:65943800-65944600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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