Variant report

Variant	rs16953056
Chromosome Location	chr18:210306-210307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:210003..212039-chr18:215583..218232,2	K562	blood:
2	chr18:208647..210877-chr18:212851..214807,2	MCF-7	breast:
3	chr18:204844..208179-chr18:208509..211348,3	K562	blood:
4	chr18:204844..208399-chr18:208509..211522,4	K562	blood:
5	chr18:192669..194380-chr18:209391..211565,2	K562	blood:
6	chr18:210157..212965-chr18:215977..218080,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000079134	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10502287	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12052036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16944691	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16945343	0.89[ASN][1000 genomes]
rs16948415	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs16951450	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[ASN][1000 genomes]
rs16952924	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16977200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2236656	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34496489	0.98[ASN][1000 genomes]
rs3737344	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744970	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3765617	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3859374	0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs62073531	0.84[ASN][1000 genomes]
rs6506015	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7226677	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs8087639	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8092274	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8093598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8094221	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs8098928	0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs9635846	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9956931	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064673	chr18:11543-249310	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1061730	chr18:11543-322183	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1059645	chr18:11543-326679	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv576227	chr18:52933-322183	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1064150	chr18:99036-321710	Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1055303	chr18:112328-304352	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv543527	chr18:112328-304352	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv543530	chr18:112528-932674	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv1067102	chr18:112528-984688	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv543531	chr18:112528-984688	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
11	nsv1066441	chr18:136228-249310	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv1057029	chr18:141491-356238	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv1066995	chr18:141491-415027	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv1064735	chr18:141491-483651	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
15	nsv1062680	chr18:141491-549166	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv1067218	chr18:141491-603796	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv543544	chr18:141491-675519	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
18	nsv1064998	chr18:141491-1095845	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
19	nsv543545	chr18:141491-1095845	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
20	nsv1057105	chr18:143546-235928	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
21	nsv531216	chr18:148763-293736	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
22	nsv532441	chr18:148763-1108997	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
23	nsv530373	chr18:148963-533693	Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
24	nsv482910	chr18:161390-305010	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
25	nsv518642	chr18:196829-331506	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:160200-210800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:160200-218000	Weak transcription	Stomach Mucosa	stomach
3	chr18:160200-218400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:178200-210800	Weak transcription	Pancreas	Pancrea
5	chr18:181000-210800	Weak transcription	Small Intestine	intestine
6	chr18:193200-218800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:193400-227000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr18:193800-219200	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr18:195000-213400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr18:195200-231200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr18:195400-219000	Strong transcription	Primary T cells from cord blood	blood
12	chr18:195400-219000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr18:195400-219800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr18:195400-220600	Strong transcription	Dnd41	blood
15	chr18:195400-228000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr18:195400-233000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr18:197000-212000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr18:197400-210800	Weak transcription	Esophagus	oesophagus
19	chr18:199800-214000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr18:199800-251000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr18:203800-213600	Weak transcription	Right Ventricle	heart
22	chr18:205000-219200	Strong transcription	HMEC	breast
23	chr18:205800-210600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr18:205800-210800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:205800-210800	Weak transcription	Fetal Intestine Small	intestine
26	chr18:206000-220800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr18:206200-210800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:206200-210800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr18:206200-210800	Weak transcription	Aorta	Aorta
30	chr18:206200-210800	Weak transcription	Colonic Mucosa	Colon
31	chr18:206200-210800	Weak transcription	Gastric	stomach
32	chr18:206200-210800	Weak transcription	Psoas Muscle	Psoas
33	chr18:206200-210800	Weak transcription	Spleen	Spleen
34	chr18:206200-210800	Weak transcription	NHLF	lung
35	chr18:206400-210600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr18:206400-210800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr18:206400-210800	Weak transcription	Brain Angular Gyrus	brain
38	chr18:206400-210800	Weak transcription	Brain Hippocampus Middle	brain
39	chr18:206400-210800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr18:206400-210800	Weak transcription	Brain Substantia Nigra	brain
41	chr18:206400-210800	Weak transcription	Ovary	ovary
42	chr18:206400-210800	Weak transcription	Thymus	Thymus
43	chr18:206400-216400	Weak transcription	Fetal Heart	heart
44	chr18:206400-222200	Weak transcription	Fetal Brain Male	brain
45	chr18:206800-210600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr18:206800-210800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr18:206800-210800	Weak transcription	HSMMtube	muscle
48	chr18:206800-211400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr18:207000-210600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr18:207000-210800	Weak transcription	Fetal Kidney	kidney

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