Variant report

Variant	rs12099180
Chromosome Location	chr11:107918099-107918100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107878242..107880040-chr11:107917388..107919635,2	K562	blood:

Variant related genes	Relation type
ENSG00000166266	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11827637	1.00[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11828981	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17107678	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17107737	1.00[YRI][hapmap]
rs4987907	1.00[MEX][hapmap]
rs7105261	0.86[AFR][1000 genomes]
rs7951499	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[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	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2750980	chr11:107720941-107970986	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
5	nsv1047984	chr11:107794729-107950746	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1040345	chr11:107824764-107924309	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
7	esv3372573	chr11:107880365-108022895	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr11:107884400-107926200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:107884400-107942000	Weak transcription	Esophagus	oesophagus
3	chr11:107884800-107929200	Weak transcription	NHEK	skin
4	chr11:107890800-107926800	Weak transcription	Hela-S3	cervix
5	chr11:107890800-107975200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:107891000-107965800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:107891200-107966200	Weak transcription	Small Intestine	intestine
8	chr11:107896400-107927400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:107896600-107922800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:107896600-107926600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:107896600-107962000	Weak transcription	Right Ventricle	heart
12	chr11:107898000-107924600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:107900000-107921000	Weak transcription	Stomach Mucosa	stomach
14	chr11:107901600-107933800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:107902400-107918600	Weak transcription	HSMMtube	muscle
16	chr11:107902600-107974400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:107903000-107927800	Weak transcription	Fetal Brain Male	brain
18	chr11:107903400-107935200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:107903600-107957600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:107903800-107938000	Strong transcription	Dnd41	blood
21	chr11:107904200-107924800	Weak transcription	Brain Substantia Nigra	brain
22	chr11:107904400-107933800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:107904600-107920800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:107905400-107925800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:107906000-107925400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:107906000-107934600	Weak transcription	Brain Angular Gyrus	brain
27	chr11:107906600-107927400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:107906800-107923600	Weak transcription	Right Atrium	heart
29	chr11:107906800-107923800	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:107906800-107923800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:107906800-107942000	Weak transcription	Aorta	Aorta
32	chr11:107906800-107945600	Weak transcription	Spleen	Spleen
33	chr11:107906800-107947000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:107907200-107933200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr11:107908200-107919000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:107908200-107926600	Weak transcription	Psoas Muscle	Psoas
37	chr11:107908200-107964000	Weak transcription	Fetal Heart	heart
38	chr11:107908400-107980600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:107908600-107918600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:107908600-107919000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr11:107908600-107919600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:107908600-107923800	Weak transcription	Brain Anterior Caudate	brain
43	chr11:107908600-107924800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr11:107908600-107925000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:107908600-107929400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:107908600-107940800	Weak transcription	A549	lung
47	chr11:107908800-107925000	Weak transcription	NHDF-Ad	bronchial
48	chr11:107908800-107927200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr11:107908800-107939600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:107909200-107918400	Strong transcription	Fetal Intestine Small	intestine

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