Variant report

Variant	rs11715134
Chromosome Location	chr3:50552866-50552867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11549673	1.00[AFR][1000 genomes]
rs11715725	1.00[AFR][1000 genomes]
rs11720093	0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2269506	0.82[ASN][1000 genomes]
rs685887	1.00[AFR][1000 genomes]
rs73072475	1.00[AFR][1000 genomes]
rs73082914	1.00[AFR][1000 genomes]
rs73082936	1.00[AFR][1000 genomes]
rs73082941	1.00[AFR][1000 genomes]
rs752183	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription 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 miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
6	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv460532	chr3:50536273-50616049	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv590272	chr3:50536273-50616049	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50550600-50553000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr3:50551400-50553000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:50551400-50553200	Enhancers	Fetal Intestine Small	intestine
4	chr3:50551400-50553200	Enhancers	Fetal Stomach	stomach
5	chr3:50551600-50555200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:50551800-50553000	Enhancers	Fetal Muscle Leg	muscle
7	chr3:50551800-50553200	Enhancers	Fetal Intestine Large	intestine
8	chr3:50551800-50554200	Enhancers	Fetal Kidney	kidney
9	chr3:50551800-50554400	Enhancers	HSMMtube	muscle
10	chr3:50551800-50557600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:50552000-50553800	Enhancers	Fetal Lung	lung
12	chr3:50552200-50553000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:50552200-50553000	Enhancers	Primary B cells from peripheral blood	blood
14	chr3:50552200-50553000	Bivalent Enhancer	Fetal Brain Female	brain
15	chr3:50552200-50554800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:50552200-50555200	Enhancers	Fetal Heart	heart
17	chr3:50552200-50555800	Enhancers	Spleen	Spleen
18	chr3:50552200-50556600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:50552200-50557600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr3:50552400-50553000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:50552400-50553000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:50552400-50553200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:50552400-50554000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr3:50552400-50555200	Enhancers	Placenta	Placenta
25	chr3:50552600-50553000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr3:50552600-50553000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr3:50552600-50553000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr3:50552600-50553200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr3:50552600-50553600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:50552600-50553800	Enhancers	Brain Hippocampus Middle	brain
31	chr3:50552600-50553800	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr3:50552600-50554200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:50552600-50554200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:50552600-50554400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr3:50552600-50554400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr3:50552600-50554400	Enhancers	Brain Germinal Matrix	brain
37	chr3:50552600-50554600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr3:50552600-50554600	Enhancers	Primary B cells from cord blood	blood
39	chr3:50552600-50555200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:50552800-50553000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:50552800-50553000	Enhancers	Stomach Smooth Muscle	stomach
42	chr3:50552800-50553000	Bivalent Enhancer	HepG2	liver
43	chr3:50552800-50553200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr3:50552800-50553200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:50552800-50553400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr3:50552800-50553600	Enhancers	Colon Smooth Muscle	Colon
47	chr3:50552800-50553600	Bivalent Enhancer	Fetal Brain Male	brain
48	chr3:50552800-50553800	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr3:50552800-50553800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr3:50552800-50553800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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