Variant report

Variant	rs16987352
Chromosome Location	chr22:29671023-29671024
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	POLR2A	chr22:29670976-29674481	HepG2	liver:	n/a	n/a
2	STAT3	chr22:29670976-29671271	GM12878	blood:	n/a	n/a
3	POLR2A	chr22:29670993-29671915	GM12878	blood:	n/a	n/a
4	POLR2A	chr22:29670939-29671190	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr22:29670931-29671076	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:29668749..29671101-chr22:29682905..29685609,2	K562	blood:
2	chr22:29670501..29673200-chr22:29700972..29703163,2	K562	blood:
3	chr22:29667551..29671101-chr22:29682510..29685609,3	K562	blood:
4	chr22:29194198..29196247-chr22:29670122..29672635,2	MCF-7	breast:

Variant related genes	Relation type
EWSR1	TF binding region
ENSG00000185340	Chromatin interaction
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16987345	0.91[AFR][1000 genomes]
rs16987353	0.95[AFR][1000 genomes]
rs16987356	1.00[AFR][1000 genomes]
rs16987361	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv829155	chr22:29664396-29724001	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29665800-29672600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:29666200-29672800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:29666400-29672600	Weak transcription	Spleen	Spleen
4	chr22:29666400-29672800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:29666800-29674000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr22:29667000-29675400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr22:29667200-29672800	Weak transcription	Gastric	stomach
8	chr22:29667200-29673200	Genic enhancers	HepG2	liver
9	chr22:29667200-29676200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr22:29667200-29695000	Strong transcription	Placenta	Placenta
11	chr22:29667400-29674200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr22:29667600-29674200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr22:29667600-29674400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
14	chr22:29667600-29697800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr22:29667800-29672600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr22:29667800-29674000	Weak transcription	Psoas Muscle	Psoas
17	chr22:29667800-29675200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr22:29667800-29697000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:29667800-29697200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:29667800-29697800	Strong transcription	Fetal Thymus	thymus
21	chr22:29668000-29671200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr22:29668000-29671800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:29668000-29672600	Weak transcription	Aorta	Aorta
24	chr22:29668000-29673400	Genic enhancers	Liver	Liver
25	chr22:29668000-29674400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr22:29668000-29697000	Strong transcription	NHEK	skin
27	chr22:29668000-29697200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr22:29668000-29697200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr22:29668000-29697600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr22:29668000-29697600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr22:29668000-29698000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:29668000-29698200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr22:29668200-29671200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr22:29668200-29671200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr22:29668200-29671400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr22:29668200-29671400	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr22:29668200-29671600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr22:29668200-29671600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:29668200-29671800	Genic enhancers	Fetal Intestine Large	intestine
40	chr22:29668200-29672600	Genic enhancers	Duodenum Mucosa	Duodenum
41	chr22:29668200-29675400	Weak transcription	Right Atrium	heart
42	chr22:29668200-29677000	Strong transcription	K562	blood
43	chr22:29668200-29697000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr22:29668200-29697400	Strong transcription	HMEC	breast
45	chr22:29668200-29697600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr22:29668200-29697800	Strong transcription	Fetal Muscle Leg	muscle
47	chr22:29668200-29698000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr22:29668200-29698400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr22:29668200-29698400	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr22:29668400-29671600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood

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