Variant report

Variant	rs4500446
Chromosome Location	chr11:47852478-47852479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10742819	0.88[AFR][1000 genomes]
rs10769293	0.88[AFR][1000 genomes]
rs10769301	0.98[AFR][1000 genomes]
rs10838756	0.88[AFR][1000 genomes]
rs10838781	0.89[AFR][1000 genomes]
rs10838785	0.98[AFR][1000 genomes]
rs11039437	0.95[AFR][1000 genomes]
rs1459988	0.90[AFR][1000 genomes]
rs2869542	0.97[AFR][1000 genomes]
rs4519055	0.96[AFR][1000 genomes]
rs4752863	0.86[AFR][1000 genomes]
rs4752868	0.92[AFR][1000 genomes]
rs4752874	0.98[AFR][1000 genomes]
rs4752876	0.98[AFR][1000 genomes]
rs6485790	0.89[AFR][1000 genomes]
rs6485791	0.98[AFR][1000 genomes]
rs7107116	0.91[AFR][1000 genomes]
rs7112381	0.95[AFR][1000 genomes]
rs7125276	0.97[AFR][1000 genomes]
rs7128206	0.81[AFR][1000 genomes]
rs7130715	0.92[AFR][1000 genomes]
rs7936734	0.92[AFR][1000 genomes]
rs7945233	0.98[AFR][1000 genomes]
rs7945302	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
4	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv1049835	chr11:47837089-47928822	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv541036	chr11:47837089-47928822	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr11:47790200-47869200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47795400-47866600	Strong transcription	Fetal Thymus	thymus
3	chr11:47795400-47868400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:47796200-47867400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr11:47796200-47868200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:47796200-47868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:47796200-47868400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:47796200-47868400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:47796200-47868600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:47796400-47858800	Strong transcription	Liver	Liver
11	chr11:47796400-47867600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:47796600-47868600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:47798000-47868000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:47798400-47864800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:47807000-47865600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr11:47820000-47864800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:47823000-47854600	Weak transcription	Fetal Heart	heart
18	chr11:47823200-47854800	Weak transcription	Aorta	Aorta
19	chr11:47831800-47868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:47833800-47853200	Weak transcription	Gastric	stomach
21	chr11:47833800-47854600	Weak transcription	Esophagus	oesophagus
22	chr11:47834000-47853600	Weak transcription	NHLF	lung
23	chr11:47834200-47854000	Weak transcription	Right Ventricle	heart
24	chr11:47834200-47855200	Weak transcription	Psoas Muscle	Psoas
25	chr11:47834600-47856000	Weak transcription	Colonic Mucosa	Colon
26	chr11:47835000-47853600	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:47835400-47854000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:47837200-47853600	Weak transcription	Spleen	Spleen
29	chr11:47837200-47857200	Weak transcription	Small Intestine	intestine
30	chr11:47837800-47854000	Weak transcription	NHEK	skin
31	chr11:47840000-47854000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:47840600-47854000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:47840600-47863600	Weak transcription	Stomach Mucosa	stomach
34	chr11:47842600-47854000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:47843400-47853600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:47843400-47853600	Weak transcription	Left Ventricle	heart
37	chr11:47843400-47853600	Weak transcription	Lung	lung
38	chr11:47843400-47854000	Weak transcription	Brain Angular Gyrus	brain
39	chr11:47843400-47854000	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:47843400-47854800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:47843400-47855200	Weak transcription	Pancreas	Pancrea
42	chr11:47843600-47853800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:47843600-47854000	Weak transcription	HMEC	breast
44	chr11:47843800-47854000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:47843800-47854000	Weak transcription	NHDF-Ad	bronchial
46	chr11:47845000-47852800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:47845000-47853800	Weak transcription	NH-A	brain
48	chr11:47845000-47854000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr11:47845200-47854000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:47845200-47854000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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