Variant report

Variant	rs6111101
Chromosome Location	chr20:16392411-16392412
allele	C/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	JUND	chr20:16391997-16392426	K562	blood:	n/a	n/a
2	ZNF384	chr20:16392009-16392482	K562	blood:	n/a	n/a
3	TEAD4	chr20:16391898-16392443	K562	blood:	n/a	n/a
4	TAL1	chr20:16391828-16392464	K562	blood:	n/a	n/a
5	GATA1	chr20:16391660-16392517	PBDE	blood:	n/a	n/a
6	CEBPD	chr20:16391974-16392425	K562	blood:	n/a	n/a
7	GATA1	chr20:16391806-16392414	K562	blood:	n/a	n/a
8	TRIM28	chr20:16391950-16392419	K562	blood:	n/a	n/a
9	NR2F2	chr20:16391858-16392466	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:16388888..16390666-chr20:16391458..16394236,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221448	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1012904	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1012905	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1884660	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2144942	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2144944	0.81[ASN][1000 genomes]
rs2273425	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4332991	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4814491	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4814495	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6043937	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6080256	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6105596	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6111102	0.84[ASN][1000 genomes]
rs6111113	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs761901	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833931	chr20:16308276-16460596	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16346600-16393600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr20:16372600-16404600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr20:16375400-16392600	Weak transcription	NH-A	brain
4	chr20:16375400-16396400	Weak transcription	Stomach Mucosa	stomach
5	chr20:16378000-16404400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr20:16378800-16393400	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr20:16379000-16392800	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr20:16379200-16395800	Weak transcription	NHDF-Ad	bronchial
9	chr20:16381400-16399200	Weak transcription	HMEC	breast
10	chr20:16384000-16432600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr20:16385200-16404200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr20:16385400-16404200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr20:16386200-16404400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr20:16386400-16398600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr20:16386400-16404200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr20:16387000-16393000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr20:16387000-16399000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr20:16387000-16399000	Weak transcription	Liver	Liver
19	chr20:16387000-16399000	Weak transcription	Pancreas	Pancrea
20	chr20:16387000-16399400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr20:16387000-16403000	Weak transcription	Fetal Stomach	stomach
22	chr20:16387000-16404200	Weak transcription	Gastric	stomach
23	chr20:16387000-16406400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr20:16387200-16399600	Weak transcription	NHEK	skin
25	chr20:16387400-16404000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr20:16387400-16404400	Weak transcription	Esophagus	oesophagus
27	chr20:16387400-16411800	Weak transcription	Colonic Mucosa	Colon
28	chr20:16388800-16399000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr20:16389400-16396200	Weak transcription	HepG2	liver
30	chr20:16389600-16404200	Weak transcription	A549	lung
31	chr20:16391000-16401800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr20:16391200-16393000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr20:16391200-16393000	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr20:16391200-16393000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
35	chr20:16391200-16393000	ZNF genes & repeats	Fetal Muscle Leg	muscle
36	chr20:16391200-16393800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr20:16391200-16394000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr20:16391400-16392600	ZNF genes & repeats	Fetal Brain Male	brain
39	chr20:16391400-16393000	ZNF genes & repeats	Aorta	Aorta
40	chr20:16391400-16393000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr20:16391400-16393000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr20:16391400-16393000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
43	chr20:16391400-16393000	Enhancers	K562	blood
44	chr20:16391400-16393200	ZNF genes & repeats	Fetal Lung	lung
45	chr20:16391600-16406400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr20:16391600-16410800	Weak transcription	Thymus	Thymus
47	chr20:16391800-16393200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
48	chr20:16391800-16399200	Weak transcription	Ovary	ovary
49	chr20:16391800-16399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr20:16391800-16404200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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