Variant report

Variant	rs12323772
Chromosome Location	chr14:21268871-21268872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21268338..21269864-chr14:21272923..21275460,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17096637	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17096638	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74034609	0.87[AFR][1000 genomes];1.00[AMR][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

No data

Chromatin state (count:79 , 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	chr14:21266600-21270200	Enhancers	Primary hematopoietic stem cells	blood
5	chr14:21266600-21270400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:21266600-21271000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:21266600-21271400	Flanking Active TSS	K562	blood
8	chr14:21267000-21270400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:21267400-21270000	Active TSS	Colon Smooth Muscle	Colon
10	chr14:21267600-21269200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:21267600-21270000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr14:21267600-21271400	Active TSS	Adipose Nuclei	Adipose
13	chr14:21267800-21269400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:21267800-21269400	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr14:21267800-21269800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr14:21267800-21269800	Active TSS	Right Atrium	heart
17	chr14:21267800-21270000	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr14:21267800-21270200	Enhancers	Fetal Intestine Small	intestine
19	chr14:21267800-21271400	Flanking Active TSS	HUVEC	blood vessel
20	chr14:21268000-21269200	Enhancers	Colonic Mucosa	Colon
21	chr14:21268000-21271000	Active TSS	Fetal Muscle Leg	muscle
22	chr14:21268200-21269000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:21268200-21269600	Weak transcription	Fetal Kidney	kidney
24	chr14:21268200-21269800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:21268200-21269800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr14:21268200-21270800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:21268200-21270800	Weak transcription	Liver	Liver
28	chr14:21268200-21270800	Active TSS	Lung	lung
29	chr14:21268200-21271200	Active TSS	Psoas Muscle	Psoas
30	chr14:21268400-21269200	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr14:21268400-21269200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr14:21268400-21269200	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr14:21268400-21269200	Weak transcription	Spleen	Spleen
34	chr14:21268400-21269600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr14:21268400-21269600	Active TSS	Stomach Smooth Muscle	stomach
36	chr14:21268400-21269800	Enhancers	Thymus	Thymus
37	chr14:21268400-21270200	Enhancers	Fetal Thymus	thymus
38	chr14:21268400-21270800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr14:21268400-21270800	Active TSS	Gastric	stomach
40	chr14:21268400-21271000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:21268400-21271200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr14:21268400-21271600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr14:21268400-21271600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:21268600-21269400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr14:21268600-21269400	Enhancers	Fetal Heart	heart
46	chr14:21268600-21269400	Weak transcription	Fetal Stomach	stomach
47	chr14:21268600-21269600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:21268600-21269600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:21268600-21269600	Active TSS	Left Ventricle	heart
50	chr14:21268600-21269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links