Variant report

Variant	rs2233358
Chromosome Location	chr11:47603827-47603828
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	POLR2A	chr11:47603200-47604168	K562	blood:	n/a	n/a
2	POLR2A	chr11:47603370-47603990	K562	blood:	n/a	n/a
3	POLR2A	chr11:47603363-47603942	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:47603323-47604172	K562	blood:	n/a	n/a
5	POLR2A	chr11:47603406-47603959	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:47603664-47603894	K562	blood:	n/a	n/a
7	POLR2A	chr11:47603168-47604025	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47603018..47605507-chr11:47787325..47789892,2	K562	blood:
2	chr11:47585423..47588969-chr11:47597747..47604797,13	K562	blood:

Variant related genes	Relation type
KBTBD4	TF binding region
FAM180B	TF binding region
ENSG00000109920	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000213619	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10160313	1.00[AFR][1000 genomes]
rs1040199	1.00[AFR][1000 genomes]
rs10769273	1.00[AFR][1000 genomes]
rs35920762	1.00[AFR][1000 genomes]
rs6485757	1.00[AFR][1000 genomes]
rs7116487	1.00[AFR][1000 genomes]
rs7118918	1.00[AFR][1000 genomes]
rs7121406	0.83[AFR][1000 genomes]
rs7932169	1.00[AFR][1000 genomes]
rs7933674	1.00[AFR][1000 genomes]
rs7940413	1.00[AFR][1000 genomes]
rs9666418	1.00[AFR][1000 genomes]
rs967829	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr11:47601400-47611800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:47601400-47613400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:47601800-47606600	Strong transcription	Fetal Muscle Trunk	muscle
4	chr11:47601800-47607000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:47601800-47607200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:47602000-47605800	Strong transcription	Fetal Kidney	kidney
7	chr11:47602000-47606000	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr11:47602000-47606000	Strong transcription	HSMMtube	muscle
9	chr11:47602000-47606800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:47602000-47606800	Strong transcription	Esophagus	oesophagus
11	chr11:47602000-47607000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:47602000-47607000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:47602000-47607000	Strong transcription	Fetal Lung	lung
14	chr11:47602000-47607200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:47602000-47607600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:47602000-47608000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:47602000-47608200	Strong transcription	Placenta	Placenta
18	chr11:47602200-47604000	Strong transcription	Small Intestine	intestine
19	chr11:47602200-47604400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:47602200-47605200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:47602200-47605400	Strong transcription	Spleen	Spleen
22	chr11:47602200-47605800	Strong transcription	Fetal Brain Male	brain
23	chr11:47602200-47606000	Strong transcription	HSMM	muscle
24	chr11:47602200-47606200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:47602200-47606200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr11:47602200-47606200	Strong transcription	NH-A	brain
27	chr11:47602200-47606400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:47602200-47606400	Strong transcription	NHEK	skin
29	chr11:47602200-47606400	Strong transcription	Osteobl	bone
30	chr11:47602200-47606600	Strong transcription	HepG2	liver
31	chr11:47602200-47606800	Strong transcription	Adipose Nuclei	Adipose
32	chr11:47602200-47606800	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:47602200-47606800	Strong transcription	Fetal Muscle Leg	muscle
34	chr11:47602200-47607000	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr11:47602200-47607000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:47602200-47607000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr11:47602200-47607000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:47602200-47607000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:47602200-47607000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:47602200-47607000	Strong transcription	Brain Substantia Nigra	brain
41	chr11:47602200-47607000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr11:47602200-47607000	Strong transcription	Rectal Smooth Muscle	rectum
43	chr11:47602200-47607000	Strong transcription	Right Ventricle	heart
44	chr11:47602200-47607000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr11:47602200-47607200	Strong transcription	Fetal Thymus	thymus
46	chr11:47602200-47607400	Strong transcription	Lung	lung
47	chr11:47602200-47607600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:47602200-47607600	Strong transcription	Fetal Intestine Large	intestine
49	chr11:47602200-47607800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:47602200-47607800	Strong transcription	Primary T cells from cord blood	blood

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