Variant report

Variant	rs58182842
Chromosome Location	chr11:121176160-121176161
allele	A/G
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	chr11:121176154-121176389	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SC5D	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17125022	1.00[ASN][1000 genomes]
rs57946918	1.00[ASN][1000 genomes]
rs60234153	1.00[ASN][1000 genomes]
rs7112214	1.00[ASN][1000 genomes]
rs7125671	0.82[AFR][1000 genomes]
rs73592754	1.00[ASN][1000 genomes]
rs73592756	1.00[ASN][1000 genomes]
rs73592762	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73592766	1.00[ASN][1000 genomes]
rs7942732	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042295	chr11:121072853-121177079	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv898424	chr11:121108865-121206354	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv898425	chr11:121115206-121215237	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv898426	chr11:121136604-121206354	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121164000-121181400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:121164200-121177200	Weak transcription	Placenta	Placenta
3	chr11:121164200-121179600	Weak transcription	Spleen	Spleen
4	chr11:121164200-121183000	Weak transcription	Esophagus	oesophagus
5	chr11:121164400-121177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:121164400-121177400	Weak transcription	Lung	lung
7	chr11:121164400-121177600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:121164400-121179400	Weak transcription	Colonic Mucosa	Colon
9	chr11:121164400-121183000	Weak transcription	Fetal Stomach	stomach
10	chr11:121164600-121177400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:121164600-121177600	Weak transcription	Aorta	Aorta
12	chr11:121164600-121180200	Weak transcription	K562	blood
13	chr11:121164800-121177000	Weak transcription	Brain Germinal Matrix	brain
14	chr11:121164800-121177200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:121164800-121177200	Weak transcription	Fetal Kidney	kidney
16	chr11:121164800-121177200	Weak transcription	Osteobl	bone
17	chr11:121164800-121177400	Weak transcription	Thymus	Thymus
18	chr11:121164800-121182000	Weak transcription	A549	lung
19	chr11:121165000-121177200	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:121165000-121177200	Weak transcription	Brain Substantia Nigra	brain
21	chr11:121165000-121189400	Weak transcription	Fetal Intestine Small	intestine
22	chr11:121167400-121176200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:121168000-121177400	Weak transcription	Brain Angular Gyrus	brain
24	chr11:121170000-121176800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:121170200-121176800	Weak transcription	Fetal Brain Male	brain
26	chr11:121171600-121177400	Weak transcription	Psoas Muscle	Psoas
27	chr11:121171600-121177400	Weak transcription	Right Ventricle	heart
28	chr11:121171600-121177400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:121171600-121177800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:121171600-121179600	Weak transcription	Gastric	stomach
31	chr11:121171600-121181600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:121171600-121181800	Weak transcription	Pancreas	Pancrea
33	chr11:121171600-121182000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:121171600-121189600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:121171800-121177400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:121171800-121177400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:121171800-121177400	Weak transcription	Left Ventricle	heart
38	chr11:121171800-121177800	Weak transcription	Fetal Heart	heart
39	chr11:121171800-121179800	Weak transcription	Small Intestine	intestine
40	chr11:121171800-121190200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:121172400-121178000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:121172600-121180600	Strong transcription	Dnd41	blood
43	chr11:121172600-121182000	Strong transcription	Primary T cells from cord blood	blood
44	chr11:121172800-121180800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:121173200-121180200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:121173200-121180600	Strong transcription	HMEC	breast
47	chr11:121173200-121181200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:121173400-121180600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:121173400-121180800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:121173400-121180800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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