Variant report

Variant	rs17096638
Chromosome Location	chr14:21268303-21268304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21266492..21268540-chr14:21287443..21289663,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12323772	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17096637	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2245824	1.00[EUR][1000 genomes]
rs2771328	1.00[EUR][1000 genomes]
rs2771330	1.00[EUR][1000 genomes]
rs2771331	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2771333	1.00[EUR][1000 genomes]
rs2783790	1.00[EUR][1000 genomes]
rs35226165	1.00[EUR][1000 genomes]
rs4982366	1.00[EUR][1000 genomes]
rs56928205	1.00[EUR][1000 genomes]
rs57459416	1.00[EUR][1000 genomes]
rs57763153	1.00[EUR][1000 genomes]
rs58418541	1.00[EUR][1000 genomes]
rs58984932	1.00[EUR][1000 genomes]
rs59183792	1.00[EUR][1000 genomes]
rs59793479	1.00[EUR][1000 genomes]
rs59845330	1.00[EUR][1000 genomes]
rs60909508	1.00[EUR][1000 genomes]
rs73574048	1.00[EUR][1000 genomes]
rs73574054	1.00[EUR][1000 genomes]
rs73576004	1.00[EUR][1000 genomes]
rs73582001	1.00[EUR][1000 genomes]
rs74034604	1.00[EUR][1000 genomes]
rs74034609	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats 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 target site	203 gene(s)	inside rSNPs	diseases
3	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
7	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17096638	ANXA8L2	trans	brain	seeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21266000-21270000	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:21266000-21270400	Enhancers	GM12878-XiMat	blood
3	chr14:21266200-21269200	Enhancers	Primary B cells from cord blood	blood
4	chr14:21266600-21268600	Enhancers	Primary T cells from cord blood	blood
5	chr14:21266600-21270200	Enhancers	Primary hematopoietic stem cells	blood
6	chr14:21266600-21270400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:21266600-21271000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:21266600-21271400	Flanking Active TSS	K562	blood
9	chr14:21267000-21270400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:21267400-21268600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr14:21267400-21268600	Flanking Active TSS	Fetal Heart	heart
12	chr14:21267400-21268800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:21267400-21268800	Enhancers	Fetal Intestine Large	intestine
14	chr14:21267400-21270000	Active TSS	Colon Smooth Muscle	Colon
15	chr14:21267600-21268400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr14:21267600-21268600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:21267600-21268600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr14:21267600-21269200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:21267600-21270000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr14:21267600-21271400	Active TSS	Adipose Nuclei	Adipose
21	chr14:21267800-21268400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr14:21267800-21268400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:21267800-21268400	Enhancers	Fetal Lung	lung
24	chr14:21267800-21268400	Active TSS	Right Ventricle	heart
25	chr14:21267800-21268400	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr14:21267800-21268600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:21267800-21268600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr14:21267800-21268600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr14:21267800-21268600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:21267800-21268600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:21267800-21268600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr14:21267800-21268600	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr14:21267800-21268600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr14:21267800-21268600	Flanking Active TSS	Stomach Mucosa	stomach
35	chr14:21267800-21268600	Bivalent Enhancer	HepG2	liver
36	chr14:21267800-21268600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr14:21267800-21268800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr14:21267800-21268800	Flanking Active TSS	Placenta	Placenta
39	chr14:21267800-21269400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:21267800-21269400	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr14:21267800-21269800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr14:21267800-21269800	Active TSS	Right Atrium	heart
43	chr14:21267800-21270000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr14:21267800-21270200	Enhancers	Fetal Intestine Small	intestine
45	chr14:21267800-21271400	Flanking Active TSS	HUVEC	blood vessel
46	chr14:21268000-21268400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr14:21268000-21268400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:21268000-21268400	Flanking Active TSS	Fetal Thymus	thymus
49	chr14:21268000-21268400	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr14:21268000-21268400	Flanking Active TSS	Thymus	Thymus

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