Variant report

Variant	rs9935973
Chromosome Location	chr16:69920036-69920037
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	GATA2	chr16:69919609-69920094	SH-SY5Y	brain:	n/a	n/a
2	EP300	chr16:69918884-69920179	SK-N-SH	brain:	n/a	chr16:69919272-69919286

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69917486..69921207-chr16:69923364..69926036,4	K562	blood:

Variant related genes	Relation type
WWP2	TF binding region
ENSG00000198373	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs13329778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13329812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13330995	1.00[AMR][1000 genomes]
rs13332544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13336041	1.00[AMR][1000 genomes]
rs13336357	1.00[AMR][1000 genomes]
rs13338911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339493	1.00[AMR][1000 genomes]
rs28429826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28502677	1.00[AMR][1000 genomes]
rs28514573	1.00[AMR][1000 genomes]
rs28523536	1.00[AMR][1000 genomes]
rs28576892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28583989	1.00[AMR][1000 genomes]
rs28610117	1.00[AMR][1000 genomes]
rs28628240	1.00[AMR][1000 genomes]
rs28651196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28673794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28756357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28803823	1.00[AMR][1000 genomes]
rs28867427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28882509	1.00[AMR][1000 genomes]
rs9923096	1.00[AMR][1000 genomes]
rs9923471	1.00[AMR][1000 genomes]
rs9924073	1.00[AMR][1000 genomes]
rs9924630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926382	1.00[AMR][1000 genomes]
rs9928560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930692	1.00[AMR][1000 genomes]
rs9931243	1.00[AFR][1000 genomes]
rs9931479	1.00[AMR][1000 genomes]
rs9933583	1.00[AMR][1000 genomes]
rs9933606	1.00[AMR][1000 genomes]
rs9933745	1.00[AMR][1000 genomes]
rs9935697	1.00[AMR][1000 genomes]
rs9936451	1.00[AMR][1000 genomes]
rs9937762	1.00[AMR][1000 genomes]
rs9938552	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	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS 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 miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69890400-69923400	Weak transcription	HUVEC	blood vessel
2	chr16:69893000-69934800	Weak transcription	Hela-S3	cervix
3	chr16:69893200-69923000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:69900800-69933400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr16:69901800-69922000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:69901800-69924600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:69902600-69924800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:69904200-69951200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr16:69906800-69923000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr16:69907200-69922000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr16:69907200-69923600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr16:69907400-69923000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:69907400-69923800	Weak transcription	HMEC	breast
14	chr16:69907600-69942600	Weak transcription	Small Intestine	intestine
15	chr16:69908000-69924200	Weak transcription	Colon Smooth Muscle	Colon
16	chr16:69908200-69943000	Weak transcription	Right Ventricle	heart
17	chr16:69908400-69921800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:69909000-69922000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr16:69910600-69937400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr16:69911000-69923000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr16:69911200-69922000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr16:69911200-69922000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:69911200-69922000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr16:69911200-69923000	Weak transcription	Fetal Lung	lung
25	chr16:69911400-69921800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr16:69911400-69922000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:69911400-69922000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:69911400-69922000	Weak transcription	Colonic Mucosa	Colon
29	chr16:69911400-69922000	Weak transcription	Placenta	Placenta
30	chr16:69911400-69922200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr16:69911400-69922400	Weak transcription	Dnd41	blood
32	chr16:69911400-69923000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr16:69911400-69923600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr16:69911400-69923600	Weak transcription	Brain Germinal Matrix	brain
35	chr16:69911400-69923600	Weak transcription	GM12878-XiMat	blood
36	chr16:69911400-69924400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr16:69911400-69970200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr16:69911600-69921600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr16:69911600-69921800	Weak transcription	Fetal Kidney	kidney
40	chr16:69911600-69922000	Weak transcription	Left Ventricle	heart
41	chr16:69911600-69922600	Weak transcription	Fetal Thymus	thymus
42	chr16:69911600-69922800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr16:69911600-69922800	Weak transcription	Ovary	ovary
44	chr16:69911600-69923000	Weak transcription	Fetal Brain Female	brain
45	chr16:69911600-69923200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr16:69911600-69923200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr16:69911600-69923200	Weak transcription	K562	blood
48	chr16:69911600-69923600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:69911800-69921600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr16:69911800-69921800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links