Variant report

Variant	rs7112346
Chromosome Location	chr11:77597521-77597522
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11820380	1.00[AMR][1000 genomes]
rs11821923	1.00[AMR][1000 genomes]
rs11823053	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823576	0.88[AFR][1000 genomes]
rs55954881	1.00[AMR][1000 genomes]
rs56147880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56331912	1.00[AMR][1000 genomes]
rs57213033	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59629019	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60937178	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7120986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9667103	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1035753	chr11:77577384-77866386	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv541093	chr11:77577384-77866386	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv555453	chr11:77577494-77618441	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77569000-77597600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:77577400-77630800	Weak transcription	Fetal Heart	heart
3	chr11:77578800-77601400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:77579200-77625000	Weak transcription	HMEC	breast
5	chr11:77579800-77597800	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:77580000-77597800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:77580800-77597800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:77582000-77598000	Strong transcription	Stomach Smooth Muscle	stomach
9	chr11:77583400-77670600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:77583400-77690000	Weak transcription	Colonic Mucosa	Colon
11	chr11:77584600-77597800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:77584800-77597800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:77585200-77597800	Strong transcription	Fetal Stomach	stomach
14	chr11:77585600-77597600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:77586200-77597600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:77586200-77597600	Strong transcription	Lung	lung
17	chr11:77586400-77597800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr11:77586600-77597800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:77586600-77597800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:77586600-77597800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:77586600-77625000	Weak transcription	Stomach Mucosa	stomach
22	chr11:77586800-77597800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:77587200-77617600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:77587400-77597600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:77587600-77597800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:77587800-77603800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:77588200-77614000	Weak transcription	Right Ventricle	heart
28	chr11:77589200-77597800	Strong transcription	Thymus	Thymus
29	chr11:77589400-77597800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr11:77589600-77597800	Strong transcription	Fetal Intestine Small	intestine
31	chr11:77590600-77597600	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:77590600-77597800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:77590600-77597800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr11:77590600-77598000	Strong transcription	Fetal Thymus	thymus
35	chr11:77590600-77600800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:77590800-77597800	Strong transcription	Fetal Lung	lung
37	chr11:77591000-77597800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:77591000-77597800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:77591200-77605600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:77591600-77597600	Strong transcription	Fetal Intestine Large	intestine
41	chr11:77591800-77650400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:77592400-77602400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:77592600-77600800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:77592800-77605400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:77592800-77690000	Weak transcription	Small Intestine	intestine
46	chr11:77593800-77625000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr11:77594000-77602000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr11:77594800-77597600	Strong transcription	Brain Germinal Matrix	brain
49	chr11:77595000-77600600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:77595000-77600800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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