Variant report

Variant	rs11714528
Chromosome Location	chr3:142133218-142133219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10935464	0.83[ASN][1000 genomes]
rs11707154	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11708870	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11709758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11711164	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11711179	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11714244	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719737	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11720007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2229032	0.83[ASN][1000 genomes]
rs2291363	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2306700	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3922731	0.80[ASN][1000 genomes]
rs55687115	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56088529	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56370391	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6769123	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6777420	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6780665	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73238130	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73238131	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73238136	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73238138	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73238140	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73238143	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73238144	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73238145	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73238148	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73238150	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73238152	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73238155	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73238158	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73238159	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73238161	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73238169	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73238170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73238173	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73238176	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73238180	0.86[AFR][1000 genomes]
rs73238185	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238187	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238195	0.80[ASN][1000 genomes]
rs73238201	0.80[ASN][1000 genomes]
rs73238202	0.80[ASN][1000 genomes]
rs7623513	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7633870	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7642634	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv522549	chr3:141812759-142164735	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv523945	chr3:141933649-142219542	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription 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 target site	25 gene(s)	inside rSNPs	diseases
5	nsv1000083	chr3:141956718-142172666	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv877557	chr3:142090402-142150204	Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv523596	chr3:142132749-142164735	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 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	chr3:142076000-142136400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:142076800-142138200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:142083600-142158600	Weak transcription	NHEK	skin
4	chr3:142105000-142151800	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr3:142105800-142136600	Strong transcription	Fetal Intestine Large	intestine
6	chr3:142106800-142150800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:142109200-142141800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:142112200-142145000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:142112200-142145400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:142112200-142151600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:142112200-142152000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:142112200-142152200	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr3:142112200-142154600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr3:142112400-142142400	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr3:142112400-142146600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr3:142112600-142141600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:142112600-142150600	Strong transcription	Placenta	Placenta
18	chr3:142112800-142142800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:142113000-142152200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr3:142113400-142151800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:142113400-142151800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:142114800-142151800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:142115800-142134800	Weak transcription	Right Ventricle	heart
24	chr3:142115800-142136400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr3:142115800-142138000	Weak transcription	Esophagus	oesophagus
26	chr3:142116400-142141800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:142117600-142138200	Weak transcription	Pancreas	Pancrea
28	chr3:142118800-142142400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:142119000-142143400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr3:142119800-142142200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:142120200-142145000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr3:142120400-142135400	Strong transcription	Liver	Liver
33	chr3:142120400-142142400	Strong transcription	Adipose Nuclei	Adipose
34	chr3:142120400-142151800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr3:142120600-142134400	Strong transcription	Primary hematopoietic stem cells	blood
36	chr3:142120600-142138000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:142120600-142151800	Strong transcription	Dnd41	blood
38	chr3:142120800-142134800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:142121200-142142600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:142121400-142140000	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:142122400-142142800	Strong transcription	GM12878-XiMat	blood
42	chr3:142122800-142133400	Strong transcription	Primary B cells from cord blood	blood
43	chr3:142123400-142134600	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr3:142123400-142136800	Strong transcription	Osteobl	bone
45	chr3:142125000-142136800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:142125000-142151800	Strong transcription	Fetal Thymus	thymus
47	chr3:142125200-142134000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:142125400-142138400	Strong transcription	Brain Hippocampus Middle	brain
49	chr3:142125600-142134800	Strong transcription	NH-A	brain
50	chr3:142125800-142144600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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