Variant report

Variant	rs16907270
Chromosome Location	chr12:11940847-11940848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11930876..11932594-chr12:11939826..11941565,2	MCF-7	breast:
2	chr12:11939839..11943118-chr12:11946215..11950813,4	K562	blood:
3	chr12:11939656..11942123-chr12:11943779..11946314,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11833885	0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16907264	1.00[ASN][1000 genomes]
rs16907267	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16907268	1.00[ASN][1000 genomes]
rs16907274	1.00[ASN][1000 genomes]
rs16907278	1.00[ASN][1000 genomes]
rs16907281	1.00[ASN][1000 genomes]
rs56144030	1.00[ASN][1000 genomes]
rs59670641	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7298216	0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73292424	0.90[AFR][1000 genomes];1.00[ASN][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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11921800-11946600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:11922000-11948200	Weak transcription	Colonic Mucosa	Colon
3	chr12:11923600-11952000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:11927400-11941400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:11927800-11946200	Weak transcription	Gastric	stomach
6	chr12:11928000-11946400	Weak transcription	Fetal Intestine Large	intestine
7	chr12:11929800-11946200	Weak transcription	HUVEC	blood vessel
8	chr12:11929800-11948600	Weak transcription	Primary B cells from cord blood	blood
9	chr12:11930000-11943200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:11931200-11943800	Weak transcription	Ovary	ovary
11	chr12:11931200-11951600	Weak transcription	Primary T cells from cord blood	blood
12	chr12:11931400-11946200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:11931400-11951200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:11931400-11951800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:11931600-11946200	Weak transcription	Lung	lung
16	chr12:11931600-11947200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:11931600-11950200	Weak transcription	Esophagus	oesophagus
18	chr12:11931800-11946400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:11932400-11946200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:11932600-11946600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:11932800-11946200	Weak transcription	NH-A	brain
22	chr12:11932800-11946400	Weak transcription	Fetal Lung	lung
23	chr12:11933600-11941200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:11934400-11941200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:11934400-11946200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:11934400-11950200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:11935000-11942400	Enhancers	Dnd41	blood
28	chr12:11935400-11946600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:11935600-11949200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:11936000-11941200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:11936800-11941000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr12:11937000-11941200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:11937400-11941200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr12:11937600-11945800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:11937800-11942000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:11937800-11946400	Weak transcription	Fetal Intestine Small	intestine
37	chr12:11938000-11941400	Enhancers	Stomach Smooth Muscle	stomach
38	chr12:11938000-11946200	Weak transcription	Spleen	Spleen
39	chr12:11938200-11942000	Enhancers	Colon Smooth Muscle	Colon
40	chr12:11938600-11941400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:11938600-11946200	Weak transcription	Right Ventricle	heart
42	chr12:11938800-11942200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:11938800-11943200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:11938800-11946200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:11938800-11946200	Weak transcription	Right Atrium	heart
46	chr12:11938800-11948200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:11939000-11941200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:11939000-11942200	Weak transcription	Left Ventricle	heart
49	chr12:11939000-11947200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:11939000-11948200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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