Variant report

Variant	rs2233357
Chromosome Location	chr11:47603555-47603556
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	chr11:47603419-47603796	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:47603323-47604172	K562	blood:	n/a	n/a
6	POLR2A	chr11:47603406-47603959	GM12892	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
FAM180B	TF binding region
NDUFS3	TF binding region
KBTBD4	TF binding region
ENSG00000110536	Chromatin interaction
ENSG00000109920	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11039250	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs11039259	1.00[YRI][hapmap]
rs11039261	0.85[LWK][hapmap];1.00[YRI][hapmap]
rs11039298	0.84[AFR][1000 genomes]
rs11039383	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs12271179	0.81[AFR][1000 genomes]
rs12275286	0.94[AFR][1000 genomes]
rs12277656	0.89[AFR][1000 genomes]
rs12288253	1.00[YRI][hapmap]
rs12293288	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377591	1.00[YRI][hapmap]
rs61978569	0.94[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	chr11:47601800-47603600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:47601800-47606600	Strong transcription	Fetal Muscle Trunk	muscle
5	chr11:47601800-47607000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:47601800-47607200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:47602000-47605800	Strong transcription	Fetal Kidney	kidney
8	chr11:47602000-47606000	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr11:47602000-47606000	Strong transcription	HSMMtube	muscle
10	chr11:47602000-47606800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:47602000-47606800	Strong transcription	Esophagus	oesophagus
12	chr11:47602000-47607000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:47602000-47607000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:47602000-47607000	Strong transcription	Fetal Lung	lung
15	chr11:47602000-47607200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:47602000-47607600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:47602000-47608000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:47602000-47608200	Strong transcription	Placenta	Placenta
19	chr11:47602200-47604000	Strong transcription	Small Intestine	intestine
20	chr11:47602200-47604400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:47602200-47605200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:47602200-47605400	Strong transcription	Spleen	Spleen
23	chr11:47602200-47605800	Strong transcription	Fetal Brain Male	brain
24	chr11:47602200-47606000	Strong transcription	HSMM	muscle
25	chr11:47602200-47606200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:47602200-47606200	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr11:47602200-47606200	Strong transcription	NH-A	brain
28	chr11:47602200-47606400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:47602200-47606400	Strong transcription	NHEK	skin
30	chr11:47602200-47606400	Strong transcription	Osteobl	bone
31	chr11:47602200-47606600	Strong transcription	HepG2	liver
32	chr11:47602200-47606800	Strong transcription	Adipose Nuclei	Adipose
33	chr11:47602200-47606800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:47602200-47606800	Strong transcription	Fetal Muscle Leg	muscle
35	chr11:47602200-47607000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr11:47602200-47607000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:47602200-47607000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr11:47602200-47607000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:47602200-47607000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:47602200-47607000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:47602200-47607000	Strong transcription	Brain Substantia Nigra	brain
42	chr11:47602200-47607000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr11:47602200-47607000	Strong transcription	Rectal Smooth Muscle	rectum
44	chr11:47602200-47607000	Strong transcription	Right Ventricle	heart
45	chr11:47602200-47607000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:47602200-47607200	Strong transcription	Fetal Thymus	thymus
47	chr11:47602200-47607400	Strong transcription	Lung	lung
48	chr11:47602200-47607600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:47602200-47607600	Strong transcription	Fetal Intestine Large	intestine
50	chr11:47602200-47607800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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