Variant report

Variant	rs2281564
Chromosome Location	chr14:42074011-42074012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr14:42073940-42074909	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr14:42073980-42074805	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:42073356-42076621	SK-N-MC	brain:	n/a	n/a
4	SIN3A	chr14:42073598-42077869	H1-hESC	embryonic stem cell:	n/a	chr14:42077621-42077630 chr14:42076170-42076179 chr14:42075971-42075982
5	SP1	chr14:42073961-42074880	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:42073393-42074802	SK-N-MC	brain:	n/a	n/a
7	FOXP2	chr14:42073989-42074296	SK-N-MC	brain:	n/a	n/a
8	TCF7L2	chr14:42073667-42074801	PANC-1	pancreas:	n/a	chr14:42074037-42074051 chr14:42074040-42074050 chr14:42074036-42074052
9	EP300	chr14:42073970-42074762	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr14:42073965-42075640	PANC-1	pancreas:	n/a	n/a
11	JUND	chr14:42073984-42074838	H1-hESC	embryonic stem cell:	n/a	n/a
12	GATA3	chr14:42073558-42074165	MCF-7	breast:	n/a	chr14:42073596-42073613
13	ESR1	chr14:42073781-42074050	T-47D	breast:	n/a	chr14:42073932-42073949
14	CHD1	chr14:42073935-42074581	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO33-2	chr14:42073957-42074059	ENSG00000258636
2	lnc-FBXO33-2	chr14:42073957-42074491	NONHSAT036576

Variant related genes	Relation type
LRFN5	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2010155	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35259288	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67408045	0.84[ASN][1000 genomes]
rs72684559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs732846	0.89[AMR][1000 genomes];0.93[EUR][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	nsv1047300	chr14:41671653-42361098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831164	chr14:41673017-42103168	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv533968	chr14:41882101-42327882	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1042078	chr14:41993985-42120143	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2758353	chr14:42045873-42259511	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2759983	chr14:42045873-42259511	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42070200-42076800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:42070800-42077000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:42071000-42076200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:42071200-42074600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:42071400-42076200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr14:42071400-42079800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr14:42071600-42074600	Active TSS	Fetal Stomach	stomach
8	chr14:42071800-42074800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:42072000-42078000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr14:42072200-42074200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:42072200-42076400	Active TSS	Fetal Lung	lung
12	chr14:42072400-42074600	Active TSS	NH-A	brain
13	chr14:42072800-42077000	Active TSS	Fetal Kidney	kidney
14	chr14:42073000-42074200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:42073000-42074400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:42073000-42074400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr14:42073000-42074400	Active TSS	Fetal Muscle Trunk	muscle
18	chr14:42073000-42074400	Active TSS	NHLF	lung
19	chr14:42073000-42074600	Active TSS	Fetal Heart	heart
20	chr14:42073000-42076200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr14:42073000-42076600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:42073000-42077200	Active TSS	Ovary	ovary
23	chr14:42073000-42079600	Active TSS	Right Atrium	heart
24	chr14:42073200-42074600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:42073200-42074800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:42073200-42076400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr14:42073200-42076800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:42073400-42074600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:42073400-42074600	Active TSS	Brain Angular Gyrus	brain
30	chr14:42073400-42074600	Active TSS	Brain Anterior Caudate	brain
31	chr14:42073400-42074800	Active TSS	Placenta Amnion	Placenta Amnion
32	chr14:42073400-42074800	Active TSS	Right Ventricle	heart
33	chr14:42073400-42076200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:42073400-42076400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:42073400-42076400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:42073400-42076400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
37	chr14:42073400-42076400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
38	chr14:42073400-42076800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
39	chr14:42073600-42074200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
40	chr14:42073600-42074200	Active TSS	Placenta	Placenta
41	chr14:42073600-42074400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr14:42073600-42074400	Active TSS	Colonic Mucosa	Colon
43	chr14:42073600-42074600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
44	chr14:42073600-42074800	Bivalent Enhancer	Liver	Liver
45	chr14:42073600-42074800	Active TSS	Colon Smooth Muscle	Colon
46	chr14:42073600-42074800	Bivalent/Poised TSS	HUVEC	blood vessel
47	chr14:42073600-42075000	Bivalent Enhancer	Spleen	Spleen
48	chr14:42073600-42075200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
49	chr14:42073600-42075600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:42073600-42075600	Bivalent/Poised TSS	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links