Variant report

Variant	rs16867118
Chromosome Location	chr2:180816269-180816270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:180810995..180812628-chr2:180815849..180818711,2	K562	blood:
2	chr2:180812825..180815255-chr2:180816104..180818371,2	K562	blood:
3	chr2:180810446..180815338-chr2:180815849..180820323,6	K562	blood:
4	chr2:180814982..180817147-chr2:180870910..180873047,2	K562	blood:

Variant related genes	Relation type
ENSG00000163510	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11885126	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11885510	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11891760	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11895445	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs11903115	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867109	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867113	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867124	0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867127	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867128	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867130	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867134	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs3934054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58024677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58408527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58896105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59814364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS 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	8 gene(s)	inside rSNPs	diseases
2	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	8 gene(s)	inside rSNPs	diseases
3	nsv521134	chr2:180746041-180848488	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1006598	chr2:180766983-180923051	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv531444	chr2:180796233-181434590	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:180792000-180816400	Weak transcription	Aorta	Aorta
2	chr2:180797800-180818200	Weak transcription	Esophagus	oesophagus
3	chr2:180801000-180836400	Weak transcription	Psoas Muscle	Psoas
4	chr2:180803400-180843600	Weak transcription	Fetal Brain Male	brain
5	chr2:180805600-180831800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:180807000-180819400	Strong transcription	Primary B cells from cord blood	blood
7	chr2:180807000-180858400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:180807400-180819200	Strong transcription	Adipose Nuclei	Adipose
9	chr2:180807800-180820400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:180807800-180820600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:180808000-180819800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:180808000-180819800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:180808200-180818200	Weak transcription	Colonic Mucosa	Colon
14	chr2:180808200-180840000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:180808200-180860400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:180808400-180816400	Weak transcription	Gastric	stomach
17	chr2:180808400-180819800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:180808400-180820400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:180808400-180820800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:180808600-180819800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:180808600-180819800	Strong transcription	Fetal Thymus	thymus
22	chr2:180808600-180831400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:180808800-180819600	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:180808800-180819600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:180808800-180820200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:180809000-180856000	Weak transcription	Fetal Stomach	stomach
27	chr2:180809200-180819600	Strong transcription	Placenta	Placenta
28	chr2:180809200-180819800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr2:180809200-180820000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:180809200-180820400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:180809200-180823600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:180809200-180825000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:180809400-180819800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:180809400-180871000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:180809600-180818800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:180809600-180820000	Strong transcription	K562	blood
37	chr2:180809800-180819800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:180809800-180819800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr2:180809800-180820000	Strong transcription	Dnd41	blood
40	chr2:180810200-180819800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:180810200-180830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr2:180810200-180830400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:180810600-180816600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:180811200-180822200	Weak transcription	Fetal Intestine Small	intestine
45	chr2:180811200-180856200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:180811400-180819000	Strong transcription	Fetal Lung	lung
47	chr2:180811400-180819600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:180811400-180819800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:180811600-180819600	Strong transcription	HSMM	muscle
50	chr2:180811600-180820400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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