Variant report

Variant	rs73340651
Chromosome Location	chr14:45602040-45602041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:45601974-45602074	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:45602011..45605313-chr14:45605492..45607351,3	K562	blood:
2	chr14:45552000..45555852-chr14:45600098..45605984,10	MCF-7	breast:
3	chr14:45600233..45601882-chr14:45601971..45603822,3	K562	blood:
4	chr14:45365342..45368511-chr14:45602012..45605909,4	MCF-7	breast:
5	chr14:45428391..45434782-chr14:45601313..45606393,12	MCF-7	breast:
6	chr14:45428929..45435608-chr14:45601966..45608462,12	MCF-7	breast:
7	chr14:45601302..45603470-chr14:50099731..50102376,2	MCF-7	breast:
8	chr14:45601339..45606570-chr14:45722040..45724234,5	MCF-7	breast:
9	chr14:45601512..45605313-chr14:45605494..45608093,6	K562	blood:

No data

Variant related genes	Relation type
FANCM	TF binding region
FKBP3	TF binding region
ENSG00000165506	Chromatin interaction
ENSG00000185246	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000198718	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000100442	Chromatin interaction
ENSG00000129534	Chromatin interaction
ENSG00000249163	Chromatin interaction
ENSG00000258633	Chromatin interaction
ENSG00000179476	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10146650	0.81[AFR][1000 genomes]
rs10146732	0.87[AFR][1000 genomes]
rs12101074	0.88[AFR][1000 genomes]
rs28406098	0.93[AFR][1000 genomes]
rs28513185	0.88[AFR][1000 genomes]
rs73340638	1.00[AMR][1000 genomes]
rs748963	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription 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 target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	esv1800510	chr14:45572528-45650813	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	25 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	chr14:45554600-45602600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:45557400-45602200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:45564800-45602200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:45573800-45602600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:45577200-45602800	Weak transcription	Aorta	Aorta
6	chr14:45583000-45602800	Weak transcription	Stomach Mucosa	stomach
7	chr14:45583800-45602800	Weak transcription	Fetal Brain Male	brain
8	chr14:45586400-45602400	Weak transcription	Pancreas	Pancrea
9	chr14:45586600-45602600	Weak transcription	Colonic Mucosa	Colon
10	chr14:45586800-45602800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:45589200-45603000	Weak transcription	Gastric	stomach
12	chr14:45589200-45603200	Weak transcription	Spleen	Spleen
13	chr14:45589600-45602600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:45590600-45602600	Weak transcription	Brain Substantia Nigra	brain
15	chr14:45590600-45602800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:45590800-45602200	Weak transcription	NHEK	skin
17	chr14:45590800-45602600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:45590800-45602600	Weak transcription	Right Ventricle	heart
19	chr14:45591000-45602200	Weak transcription	HMEC	breast
20	chr14:45592200-45602600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:45592800-45603000	Weak transcription	Esophagus	oesophagus
22	chr14:45593400-45602200	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:45593400-45602600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:45593400-45602600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:45593400-45602600	Weak transcription	Fetal Brain Female	brain
26	chr14:45593400-45603000	Weak transcription	Small Intestine	intestine
27	chr14:45593600-45602200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:45593600-45602800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:45593600-45603000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:45594400-45603000	Weak transcription	Lung	lung
31	chr14:45595200-45602600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr14:45595600-45602800	Weak transcription	Ovary	ovary
33	chr14:45596000-45602400	Weak transcription	Osteobl	bone
34	chr14:45596200-45603000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:45596400-45602800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:45597400-45602400	Weak transcription	Thymus	Thymus
37	chr14:45597400-45602600	Weak transcription	NHLF	lung
38	chr14:45597600-45602200	Weak transcription	Fetal Stomach	stomach
39	chr14:45597600-45602600	Weak transcription	Psoas Muscle	Psoas
40	chr14:45597600-45602800	Weak transcription	Fetal Intestine Small	intestine
41	chr14:45597600-45603000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:45597800-45602400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:45597800-45602800	Weak transcription	Placenta	Placenta
44	chr14:45598000-45602400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr14:45598000-45602600	Weak transcription	Fetal Kidney	kidney
46	chr14:45598000-45602600	Weak transcription	Fetal Muscle Leg	muscle
47	chr14:45598000-45602600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:45598000-45603000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr14:45598200-45602400	Weak transcription	Adipose Nuclei	Adipose
50	chr14:45598200-45602800	Enhancers	Fetal Heart	heart

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