Variant report

Variant	rs12793438
Chromosome Location	chr11:107931063-107931064
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	chr11:107930379..107933098-chr11:107935070..107937176,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11212483	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11212490	1.00[JPT][hapmap]
rs11212512	1.00[JPT][hapmap]
rs11604711	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11607588	0.82[CHB][hapmap]
rs11823929	1.00[JPT][hapmap]
rs12277368	1.00[JPT][hapmap]
rs12416788	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12418162	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12418673	1.00[JPT][hapmap]
rs12421527	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12796482	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12803043	1.00[JPT][hapmap]
rs15677	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17679325	1.00[JPT][hapmap]
rs2271853	1.00[JPT][hapmap]
rs35185685	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35237843	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3908131	1.00[JPT][hapmap]
rs4753827	1.00[JPT][hapmap]
rs60762047	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7104942	1.00[JPT][hapmap]
rs7105163	1.00[JPT][hapmap]
rs7120705	1.00[JPT][hapmap]
rs7121568	1.00[JPT][hapmap]
rs71464788	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7949655	1.00[JPT][hapmap]

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	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	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
4	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
5	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107884400-107942000	Weak transcription	Esophagus	oesophagus
2	chr11:107890800-107975200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:107891000-107965800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:107891200-107966200	Weak transcription	Small Intestine	intestine
5	chr11:107896600-107962000	Weak transcription	Right Ventricle	heart
6	chr11:107901600-107933800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:107902600-107974400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:107903400-107935200	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:107903600-107957600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:107903800-107938000	Strong transcription	Dnd41	blood
11	chr11:107904400-107933800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:107906000-107934600	Weak transcription	Brain Angular Gyrus	brain
13	chr11:107906800-107942000	Weak transcription	Aorta	Aorta
14	chr11:107906800-107945600	Weak transcription	Spleen	Spleen
15	chr11:107906800-107947000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:107907200-107933200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:107908200-107964000	Weak transcription	Fetal Heart	heart
18	chr11:107908400-107980600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:107908600-107940800	Weak transcription	A549	lung
20	chr11:107908800-107939600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:107909200-107941000	Weak transcription	NHLF	lung
22	chr11:107914800-107937800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:107914800-107955800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr11:107916000-107933800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:107916000-107938200	Strong transcription	Adipose Nuclei	Adipose
26	chr11:107916200-107935000	Strong transcription	Liver	Liver
27	chr11:107916200-107938600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:107916400-107934800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:107917000-107940200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:107917800-107937600	Strong transcription	Fetal Muscle Leg	muscle
31	chr11:107918200-107942000	Weak transcription	Gastric	stomach
32	chr11:107918200-107946200	Weak transcription	Pancreas	Pancrea
33	chr11:107921000-107938600	Strong transcription	Fetal Intestine Large	intestine
34	chr11:107922000-107932800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr11:107922000-107935200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:107922200-107935200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:107922400-107936600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:107922600-107933600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr11:107922600-107938000	Strong transcription	Fetal Thymus	thymus
40	chr11:107922800-107935000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:107923200-107934800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:107923200-107935400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:107923400-107935200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:107923800-107931400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:107923800-107936600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:107923800-107965800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:107924200-107940800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr11:107924400-107935000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:107924400-107935200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr11:107924400-107941000	Weak transcription	HUVEC	blood vessel

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