Variant report

Variant	rs7236885
Chromosome Location	chr18:13115446-13115447
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	chr18:13108117-13116498	K562	blood:	n/a	n/a
2	POLR2A	chr18:13115278-13115717	K562	blood:	n/a	n/a

Variant related genes	Relation type
CEP192	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11876347	0.83[AMR][1000 genomes]
rs28794612	0.83[AMR][1000 genomes]
rs58586405	0.83[AMR][1000 genomes]
rs61466343	0.83[AMR][1000 genomes]
rs7227681	0.83[AMR][1000 genomes]
rs7234768	0.83[AMR][1000 genomes]
rs7235058	0.83[AMR][1000 genomes]
rs7241755	0.83[AMR][1000 genomes]
rs7244672	0.83[AMR][1000 genomes]
rs8095026	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
2	chr18:13086400-13128000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr18:13089400-13122200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr18:13097200-13118800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:13098800-13121200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:13099200-13124800	Strong transcription	Fetal Thymus	thymus
7	chr18:13099200-13127800	Strong transcription	Dnd41	blood
8	chr18:13099200-13128200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr18:13099400-13129400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr18:13106200-13130000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr18:13106800-13115600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:13106800-13135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr18:13107000-13117600	Weak transcription	NHLF	lung
14	chr18:13107000-13130400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:13107200-13115800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr18:13107200-13117000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr18:13107200-13117600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr18:13107200-13117600	Weak transcription	NHDF-Ad	bronchial
19	chr18:13107800-13121000	Weak transcription	Brain Substantia Nigra	brain
20	chr18:13108400-13117400	Weak transcription	Hela-S3	cervix
21	chr18:13108400-13117600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr18:13108800-13115800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr18:13108800-13116200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr18:13109200-13117400	Weak transcription	Brain Anterior Caudate	brain
25	chr18:13109200-13117600	Weak transcription	Small Intestine	intestine
26	chr18:13109200-13117600	Weak transcription	A549	lung
27	chr18:13109200-13117600	Weak transcription	HSMMtube	muscle
28	chr18:13109400-13120800	Weak transcription	Fetal Kidney	kidney
29	chr18:13109600-13115600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr18:13109600-13117000	Weak transcription	Psoas Muscle	Psoas
31	chr18:13109600-13117600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr18:13109600-13126600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr18:13110400-13122400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr18:13110600-13118800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr18:13110800-13119600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr18:13110800-13121200	Strong transcription	Primary B cells from cord blood	blood
37	chr18:13111400-13119200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr18:13111600-13117600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr18:13111800-13116200	Strong transcription	GM12878-XiMat	blood
40	chr18:13111800-13122000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr18:13112000-13119200	Strong transcription	Left Ventricle	heart
42	chr18:13112000-13122800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr18:13112200-13125600	Weak transcription	Fetal Brain Female	brain
44	chr18:13112400-13119000	Strong transcription	HUVEC	blood vessel
45	chr18:13112600-13118600	Strong transcription	Fetal Stomach	stomach
46	chr18:13112600-13119000	Strong transcription	Thymus	Thymus
47	chr18:13112600-13119600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr18:13112600-13120000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr18:13113000-13116200	Strong transcription	NHEK	skin
50	chr18:13113000-13119200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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