Variant report

Variant	rs60100518
Chromosome Location	chr9:21506079-21506080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10124875	1.00[AMR][1000 genomes]
rs12004228	1.00[AMR][1000 genomes]
rs12006130	1.00[AMR][1000 genomes]
rs56892246	1.00[AMR][1000 genomes]
rs57966599	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60154937	0.94[AFR][1000 genomes]
rs60587038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61247654	1.00[AFR][1000 genomes]
rs7037366	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422467	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422476	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422479	0.85[AFR][1000 genomes]
rs73422482	0.82[AFR][1000 genomes]
rs73422483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422489	1.00[AFR][1000 genomes]
rs73422494	1.00[AFR][1000 genomes]
rs73422499	1.00[AFR][1000 genomes]
rs73424369	1.00[AFR][1000 genomes]
rs73424370	0.97[AFR][1000 genomes]
rs73424372	1.00[AFR][1000 genomes]
rs73424374	1.00[AFR][1000 genomes]
rs73424377	1.00[AFR][1000 genomes]
rs7866421	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
2	nsv466297	chr9:21391698-21507589	Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv613758	chr9:21391698-21507589	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1030064	chr9:21455760-21524674	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	111 gene(s)	inside rSNPs	diseases
5	nsv1020445	chr9:21464962-21524162	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	109 gene(s)	inside rSNPs	diseases
6	nsv1020232	chr9:21464962-21524999	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	110 gene(s)	inside rSNPs	diseases
7	nsv892740	chr9:21471499-21551513	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	110 gene(s)	inside rSNPs	diseases
8	nsv1031432	chr9:21472601-21608774	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
9	nsv540085	chr9:21472601-21608774	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
10	esv2757326	chr9:21499624-21526526	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region miRNA	105 gene(s)	inside rSNPs	diseases
11	esv2759680	chr9:21499624-21526526	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region miRNA	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21466000-21527600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:21494800-21527600	Weak transcription	Gastric	stomach
3	chr9:21503000-21506600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:21503200-21506200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:21503600-21507000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:21503600-21507000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr9:21503600-21508000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:21503600-21509400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:21503800-21506800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr9:21503800-21509000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:21504200-21506800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:21504200-21507800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:21504200-21507800	Weak transcription	Placenta	Placenta
14	chr9:21504600-21506800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr9:21504600-21507200	Enhancers	Osteobl	bone
16	chr9:21504800-21506200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr9:21504800-21507000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr9:21504800-21508200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr9:21504800-21508600	Enhancers	Fetal Intestine Large	intestine
20	chr9:21504800-21509400	Enhancers	NH-A	brain
21	chr9:21504800-21509400	Enhancers	NHDF-Ad	bronchial
22	chr9:21504800-21509800	Enhancers	NHEK	skin
23	chr9:21504800-21510200	Enhancers	HMEC	breast
24	chr9:21505000-21506800	Enhancers	Fetal Intestine Small	intestine
25	chr9:21505000-21507000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr9:21505000-21507200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr9:21505000-21507600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr9:21505000-21508200	Enhancers	NHLF	lung
29	chr9:21505000-21510200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:21505200-21507200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr9:21505200-21508000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:21505200-21510200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:21505400-21507200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr9:21505400-21508000	Enhancers	HSMM	muscle
35	chr9:21505600-21506400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:21505600-21506600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:21505600-21507000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr9:21505600-21507200	Enhancers	Small Intestine	intestine
39	chr9:21505600-21508400	Enhancers	A549	lung
40	chr9:21505600-21509400	Enhancers	HUVEC	blood vessel
41	chr9:21505800-21506200	Enhancers	Primary T cells from cord blood	blood
42	chr9:21505800-21506200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr9:21505800-21506200	Enhancers	Duodenum Mucosa	Duodenum
44	chr9:21505800-21506400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr9:21505800-21506400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:21505800-21506800	Weak transcription	Stomach Mucosa	stomach
47	chr9:21505800-21507000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr9:21505800-21507200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr9:21505800-21509400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr9:21506000-21506400	Enhancers	Primary hematopoietic stem cells	blood

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