Variant report

Variant	rs57149584
Chromosome Location	chr14:21995963-21995964
allele	A/G
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:7)
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	ZNF384	chr14:21995672-21996148	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21944743..21947528-chr14:21994092..21996767,2	MCF-7	breast:
2	chr1:149856183..149858038-chr14:21995590..21998397,2	K562	blood:
3	chr14:21976926..21983845-chr14:21991695..21998209,25	K562	blood:
4	chr14:21977974..21981747-chr14:21991693..21997000,9	MCF-7	breast:
5	chr14:21924995..21926631-chr14:21995228..21997322,2	K562	blood:
6	chr14:21905273..21907217-chr14:21995452..21997154,2	K562	blood:
7	chr14:21978865..21980479-chr14:21995684..21997193,2	MCF-7	breast:

No data

Variant related genes	Relation type
SALL2	TF binding region
ENSG00000092203	Chromatin interaction
ENSG00000100888	Chromatin interaction
ENSG00000129472	Chromatin interaction
ENSG00000165819	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57046561	1.00[AMR][1000 genomes]
rs74034936	1.00[AMR][1000 genomes]
rs74034937	0.82[AFR][1000 genomes];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	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv522850	chr14:21989841-21998108	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1049871	chr14:21992049-22053477	Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21994600-21996000	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr14:21995000-21998800	Weak transcription	NHEK	skin
3	chr14:21995000-21999000	Weak transcription	HMEC	breast
4	chr14:21995200-21996000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr14:21995200-21996000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:21995200-21997000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:21995400-21996000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr14:21995400-21996000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr14:21995400-21996000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr14:21995400-21996800	Weak transcription	Fetal Intestine Large	intestine
11	chr14:21995400-21997800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr14:21995400-21998000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:21995400-21998800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:21995400-21999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:21995400-21999200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:21995400-22002800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:21995600-21996600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:21995600-21996800	Weak transcription	Fetal Intestine Small	intestine
19	chr14:21995600-21997400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:21995600-21997400	Enhancers	GM12878-XiMat	blood
21	chr14:21995600-21997600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:21995600-21998200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr14:21995600-21998600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:21995600-21998800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:21995600-22001600	Weak transcription	Brain Anterior Caudate	brain
26	chr14:21995800-21996000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr14:21995800-21996000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:21995800-21996000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr14:21995800-21996000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:21995800-21996000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:21995800-21996600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:21995800-21996600	Enhancers	HepG2	liver
33	chr14:21995800-21996800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr14:21995800-21996800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr14:21995800-21996800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr14:21995800-21996800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:21995800-21996800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:21995800-21996800	Enhancers	K562	blood
39	chr14:21995800-21997600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:21995800-21999600	Enhancers	H1 Cell Line	embryonic stem cell

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