Variant report

Variant	rs6048749
Chromosome Location	chr20:23333562-23333563
allele	A/T
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	YY1	chr20:23333424-23333671	K562	blood:	n/a	chr20:23333568-23333590 chr20:23333571-23333579 chr20:23333568-23333578 chr20:23333566-23333585
2	YY1	chr20:23333429-23333649	GM12878	blood:	n/a	chr20:23333568-23333590 chr20:23333571-23333579 chr20:23333568-23333578 chr20:23333566-23333585
3	WRNIP1	chr20:23333554-23333685	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:23330877..23333588-chr20:23399396..23402604,5	K562	blood:
2	chr20:23331362..23333588-chr20:23399396..23402095,2	K562	blood:
3	chr20:23332367..23335198-chr20:23611839..23614673,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234832	TF binding region
ENSG00000270001	Chromatin interaction
ENSG00000125814	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1203994	0.82[ASN][1000 genomes]
rs2153986	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281433	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56917308	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60130293	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6036381	0.84[ASN][1000 genomes]
rs6036387	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036388	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036393	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036394	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036395	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036396	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6036400	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6036402	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048721	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048724	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048726	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048727	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048751	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048764	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048773	0.89[EUR][1000 genomes]
rs6048780	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6048782	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048783	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048785	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048787	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048789	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048791	0.85[ASN][1000 genomes]
rs6048792	0.85[ASN][1000 genomes]
rs6048793	0.85[ASN][1000 genomes]
rs6076052	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6076060	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076061	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076069	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083079	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6083082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083091	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083109	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083117	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083120	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083125	0.81[ASN][1000 genomes]
rs6106650	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6106652	0.83[ASN][1000 genomes]
rs6114053	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6114078	0.85[ASN][1000 genomes]
rs6114086	0.83[ASN][1000 genomes]
rs73303309	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73319497	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7361799	0.81[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23329800-23333600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr20:23331600-23333800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr20:23332200-23333600	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr20:23332200-23333800	Enhancers	Small Intestine	intestine
5	chr20:23332200-23333800	Enhancers	Spleen	Spleen
6	chr20:23332200-23334600	Weak transcription	Aorta	Aorta
7	chr20:23332400-23333600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr20:23332400-23333600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:23332400-23333600	Enhancers	Left Ventricle	heart
10	chr20:23332400-23333600	Enhancers	Right Atrium	heart
11	chr20:23332400-23334600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr20:23332400-23334600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:23332400-23334600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr20:23332400-23334600	Weak transcription	Lung	lung
15	chr20:23332400-23336600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr20:23332400-23336800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr20:23332600-23333600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr20:23332600-23333600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr20:23332600-23333600	Enhancers	Adipose Nuclei	Adipose
20	chr20:23332600-23333600	Enhancers	Fetal Heart	heart
21	chr20:23332600-23333600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr20:23332600-23333800	Enhancers	Primary B cells from cord blood	blood
23	chr20:23332600-23333800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr20:23332600-23333800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr20:23332600-23333800	Enhancers	Fetal Intestine Large	intestine
26	chr20:23332600-23333800	Enhancers	Fetal Lung	lung
27	chr20:23332600-23334000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr20:23332600-23334400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr20:23332600-23334400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr20:23332600-23334400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr20:23332600-23334600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr20:23332600-23334600	Weak transcription	Colonic Mucosa	Colon
33	chr20:23332600-23334600	Weak transcription	Gastric	stomach
34	chr20:23332600-23334600	Weak transcription	Ovary	ovary
35	chr20:23332600-23336600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr20:23332600-23337600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr20:23332800-23333600	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr20:23332800-23333600	Enhancers	Psoas Muscle	Psoas
39	chr20:23332800-23333600	Flanking Active TSS	GM12878-XiMat	blood
40	chr20:23332800-23333600	Transcr. at gene 5' and 3'	HepG2	liver
41	chr20:23332800-23333800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr20:23332800-23333800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr20:23332800-23333800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr20:23332800-23334400	Genic enhancers	Primary T cells from cord blood	blood
45	chr20:23332800-23334800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr20:23332800-23334800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr20:23332800-23336200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr20:23333000-23333600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr20:23333000-23333600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr20:23333000-23333600	Enhancers	Muscle Satellite Cultured Cells	--

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