Variant report

Variant	rs57747833
Chromosome Location	chr16:81818104-81818105
allele	C/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	ZNF263	chr16:81817809-81818731	HEK293-T-REx	kidney:	n/a	n/a
2	WRNIP1	chr16:81817578-81818141	GM12878	blood:	n/a	n/a
3	POU2F2	chr16:81817615-81818188	GM12891	blood:	n/a	chr16:81817833-81817848 chr16:81817837-81817844
4	POLR2A	chr16:81816374-81818124	GM12878	blood:	n/a	n/a
5	EBF1	chr16:81817017-81818156	GM12878	blood:	n/a	chr16:81817208-81817219
6	CTCF	chr16:81817980-81818130	HEK293	kidney:	n/a	n/a
7	POLR2A	chr16:81817232-81818439	GM12878	blood:	n/a	n/a
8	POLR2A	chr16:81817054-81818140	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81816216..81818733-chr16:81825136..81827386,3	MCF-7	breast:
2	chr16:81797999..81801347-chr16:81816788..81819306,3	K562	blood:
3	chr16:81811097..81813033-chr16:81817790..81820555,3	MCF-7	breast:
4	chr16:81816161..81818114-chr16:81818804..81820876,2	K562	blood:

Variant related genes	Relation type
PLCG2	TF binding region
ENSG00000197943	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11860914	1.00[AMR][1000 genomes]
rs57910401	1.00[AMR][1000 genomes]
rs59207660	1.00[AMR][1000 genomes]
rs61422344	1.00[AMR][1000 genomes]
rs73587615	0.86[AFR][1000 genomes]
rs73590844	1.00[AMR][1000 genomes]
rs73592931	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
2	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81814200-81818200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr16:81814200-81818200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr16:81814200-81818400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:81814400-81831800	Weak transcription	Adipose Nuclei	Adipose
5	chr16:81814800-81818200	Enhancers	Primary hematopoietic stem cells	blood
6	chr16:81815200-81818600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:81815200-81830000	Weak transcription	Esophagus	oesophagus
8	chr16:81815400-81830600	Weak transcription	Thymus	Thymus
9	chr16:81816000-81818400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr16:81816400-81818200	Enhancers	Fetal Intestine Large	intestine
11	chr16:81816400-81818200	Genic enhancers	Spleen	Spleen
12	chr16:81816400-81818800	Enhancers	Fetal Kidney	kidney
13	chr16:81816400-81819000	Enhancers	Small Intestine	intestine
14	chr16:81816400-81820200	Enhancers	Pancreas	Pancrea
15	chr16:81816400-81820400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:81816800-81818400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr16:81816800-81822200	Weak transcription	Colonic Mucosa	Colon
18	chr16:81817000-81818400	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr16:81817000-81818600	Enhancers	Fetal Intestine Small	intestine
20	chr16:81817200-81818200	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr16:81817200-81818600	Enhancers	Liver	Liver
22	chr16:81817200-81818600	Enhancers	Colon Smooth Muscle	Colon
23	chr16:81817200-81818600	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr16:81817200-81819000	Enhancers	Left Ventricle	heart
25	chr16:81817400-81818200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr16:81817400-81822200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr16:81817600-81818400	Enhancers	Gastric	stomach
28	chr16:81817600-81818600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr16:81817600-81818600	Enhancers	Right Ventricle	heart
30	chr16:81817600-81819600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:81817800-81818200	Enhancers	Lung	lung
32	chr16:81817800-81818200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr16:81817800-81818200	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr16:81817800-81818400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr16:81817800-81818600	Enhancers	Right Atrium	heart
36	chr16:81817800-81819400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr16:81817800-81824000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
38	chr16:81818000-81818200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr16:81818000-81818200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr16:81818000-81818200	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr16:81818000-81818200	Bivalent Enhancer	Fetal Stomach	stomach
42	chr16:81818000-81818200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr16:81818000-81818800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr16:81818000-81819600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr16:81818000-81819800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:81818000-81821000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr16:81818000-81823200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr16:81818000-81827800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr16:81818000-81830400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:81818000-81845000	Genic enhancers	Primary B cells from peripheral blood	blood

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