Variant report

Variant	rs72673462
Chromosome Location	chr14:35006313-35006314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35005104..35007114-chr14:35007414..35009874,3	K562	blood:
2	chr14:35004626..35011116-chr14:35015634..35020787,10	MCF-7	breast:
3	chr14:35005506..35011243-chr14:35020994..35025666,12	MCF-7	breast:
4	chr14:35005284..35011388-chr14:35017198..35025900,23	MCF-7	breast:
5	chr14:35005764..35008884-chr14:35021719..35025749,6	K562	blood:
6	chr14:35003178..35006952-chr14:35007318..35009026,4	MCF-7	breast:
7	chr14:34931690..34933656-chr14:35005412..35007221,2	K562	blood:
8	chr14:34929666..34933656-chr14:35005721..35010391,9	K562	blood:
9	chr14:34990714..34993643-chr14:35006292..35008810,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000129518	Chromatin interaction
ENSG00000129521	Chromatin interaction
ENSG00000165389	Chromatin interaction
ENSG00000206596	Chromatin interaction
ENSG00000206588	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55665158	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs58909728	0.95[EUR][1000 genomes]
rs60183626	0.91[EUR][1000 genomes]
rs67163867	0.91[EUR][1000 genomes]
rs72673447	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs72673453	0.82[AMR][1000 genomes]
rs72673460	1.00[EUR][1000 genomes]
rs72673463	0.91[EUR][1000 genomes]
rs72673478	0.91[EUR][1000 genomes]
rs72675213	0.95[EUR][1000 genomes]
rs72675222	0.95[EUR][1000 genomes]
rs72675225	0.95[EUR][1000 genomes]
rs72675227	0.95[EUR][1000 genomes]
rs72675230	0.90[EUR][1000 genomes]
rs72675232	0.90[EUR][1000 genomes]
rs72675239	0.90[EUR][1000 genomes]
rs7766	0.82[AMR][1000 genomes]
rs8005596	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs8016810	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1037857	chr14:34943388-35007724	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv542026	chr14:34943388-35007724	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv1049048	chr14:34969406-35048672	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv1042294	chr14:34974774-35017859	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1053274	chr14:34980184-35020973	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1037503	chr14:34980184-35027115	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
11	nsv564194	chr14:34985645-35029396	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
12	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
13	esv3365054	chr14:35006005-35006545	Genic enhancers Strong transcription Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34984400-35006600	Strong transcription	Fetal Muscle Leg	muscle
2	chr14:34984800-35006600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:34984800-35006800	Strong transcription	Fetal Stomach	stomach
4	chr14:34985000-35006600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:34985000-35006800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:34985200-35006600	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:34985200-35007000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:34985400-35006600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:34986600-35008400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:34987200-35006800	Strong transcription	Fetal Thymus	thymus
11	chr14:34987200-35007000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr14:34987200-35007000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr14:34988000-35008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:34988400-35006600	Weak transcription	NHLF	lung
15	chr14:34989200-35008000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:34989400-35006800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr14:34992200-35008200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:34993600-35006800	Strong transcription	Placenta	Placenta
19	chr14:34994000-35006600	Weak transcription	Psoas Muscle	Psoas
20	chr14:34994600-35006600	Weak transcription	K562	blood
21	chr14:34994600-35006800	Weak transcription	Stomach Mucosa	stomach
22	chr14:34994800-35006400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:34994800-35006600	Weak transcription	Fetal Heart	heart
24	chr14:34995000-35006800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr14:34997000-35006800	Weak transcription	HMEC	breast
26	chr14:34997200-35006800	Weak transcription	Colonic Mucosa	Colon
27	chr14:34997400-35006600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:34997400-35006600	Weak transcription	Fetal Brain Male	brain
29	chr14:34998000-35006600	Weak transcription	Gastric	stomach
30	chr14:34998000-35007600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:34998000-35007800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:35000400-35007800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:35002000-35006600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:35002000-35006600	Weak transcription	HUVEC	blood vessel
35	chr14:35002200-35006600	Weak transcription	Aorta	Aorta
36	chr14:35002200-35006800	Weak transcription	Brain Angular Gyrus	brain
37	chr14:35002200-35007800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr14:35002200-35008400	Weak transcription	Lung	lung
39	chr14:35002600-35006600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr14:35002600-35006600	Weak transcription	Right Ventricle	heart
41	chr14:35002600-35006800	Weak transcription	Left Ventricle	heart
42	chr14:35002600-35007200	Weak transcription	Ovary	ovary
43	chr14:35002800-35006400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:35002800-35007800	Weak transcription	Spleen	Spleen
45	chr14:35003000-35006600	Weak transcription	Small Intestine	intestine
46	chr14:35003000-35006800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:35003000-35007200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:35003000-35007800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:35003200-35006600	Weak transcription	Hela-S3	cervix
50	chr14:35003200-35006800	Weak transcription	Primary B cells from cord blood	blood

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