Variant report

Variant	rs11039306
Chromosome Location	chr11:47605859-47605860
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	chr11:47605022-47605875	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:47604619-47606315	K562	blood:	n/a	n/a
3	POLR2A	chr11:47605166-47606330	K562	blood:	n/a	n/a
4	POLR2A	chr11:47605601-47606092	K562	blood:	n/a	n/a
5	POLR2A	chr11:47605171-47606146	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:47604822-47606161	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
FAM180B	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10838721	1.00[AFR][1000 genomes]
rs11039256	1.00[AFR][1000 genomes]
rs11039339	1.00[AFR][1000 genomes]
rs11039413	1.00[AFR][1000 genomes]
rs12221935	1.00[AFR][1000 genomes]
rs12225433	1.00[AFR][1000 genomes]
rs2904128	1.00[AFR][1000 genomes]
rs60133324	1.00[AFR][1000 genomes]
rs7109918	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	chr11:47602000-47606000	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr11:47602000-47606000	Strong transcription	HSMMtube	muscle
8	chr11:47602000-47606800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:47602000-47606800	Strong transcription	Esophagus	oesophagus
10	chr11:47602000-47607000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:47602000-47607000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:47602000-47607000	Strong transcription	Fetal Lung	lung
13	chr11:47602000-47607200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:47602000-47607600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:47602000-47608000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:47602000-47608200	Strong transcription	Placenta	Placenta
17	chr11:47602200-47606000	Strong transcription	HSMM	muscle
18	chr11:47602200-47606200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:47602200-47606200	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr11:47602200-47606200	Strong transcription	NH-A	brain
21	chr11:47602200-47606400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:47602200-47606400	Strong transcription	NHEK	skin
23	chr11:47602200-47606400	Strong transcription	Osteobl	bone
24	chr11:47602200-47606600	Strong transcription	HepG2	liver
25	chr11:47602200-47606800	Strong transcription	Adipose Nuclei	Adipose
26	chr11:47602200-47606800	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:47602200-47606800	Strong transcription	Fetal Muscle Leg	muscle
28	chr11:47602200-47607000	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr11:47602200-47607000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:47602200-47607000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr11:47602200-47607000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr11:47602200-47607000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:47602200-47607000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:47602200-47607000	Strong transcription	Brain Substantia Nigra	brain
35	chr11:47602200-47607000	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr11:47602200-47607000	Strong transcription	Rectal Smooth Muscle	rectum
37	chr11:47602200-47607000	Strong transcription	Right Ventricle	heart
38	chr11:47602200-47607000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr11:47602200-47607200	Strong transcription	Fetal Thymus	thymus
40	chr11:47602200-47607400	Strong transcription	Lung	lung
41	chr11:47602200-47607600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:47602200-47607600	Strong transcription	Fetal Intestine Large	intestine
43	chr11:47602200-47607800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:47602200-47607800	Strong transcription	Primary T cells from cord blood	blood
45	chr11:47602200-47608200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr11:47602200-47608200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:47602200-47608800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:47602200-47610400	Strong transcription	Fetal Brain Female	brain
49	chr11:47602400-47606200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:47602400-47606200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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