Variant report

Variant	rs6728314
Chromosome Location	chr2:209220538-209220539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10186040	1.00[AMR][1000 genomes]
rs1030879	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12624141	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1370368	1.00[AMR][1000 genomes]
rs1978823	0.91[AFR][1000 genomes]
rs2028144	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4673400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4675759	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6414168	0.91[AFR][1000 genomes]
rs6435439	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6435447	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6710221	1.00[AMR][1000 genomes]
rs6744236	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6744738	0.85[AFR][1000 genomes]
rs7596571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7604977	0.90[AFR][1000 genomes];1.00[AMR][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	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv437315	chr2:209204714-209249613	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv460055	chr2:209208115-209221935	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv584302	chr2:209208115-209221935	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	3 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	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
2	chr2:209179000-209220600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:209180600-209224600	Strong transcription	Fetal Thymus	thymus
4	chr2:209182400-209224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:209185600-209224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:209188400-209221400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:209188400-209223400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:209188800-209221200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:209188800-209221200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr2:209188800-209221800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:209188800-209222200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:209188800-209222400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:209188800-209222600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:209188800-209223600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:209188800-209223800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:209188800-209224000	Strong transcription	Primary B cells from cord blood	blood
17	chr2:209188800-209224000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr2:209188800-209224200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:209188800-209224400	Strong transcription	Dnd41	blood
20	chr2:209190600-209224200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:209191200-209224200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:209194400-209220600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:209195400-209223800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:209198000-209221200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:209198000-209224600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:209199600-209221800	Weak transcription	Small Intestine	intestine
27	chr2:209200600-209221400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr2:209205400-209223600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:209206600-209223800	Weak transcription	Psoas Muscle	Psoas
30	chr2:209206600-209224200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:209206600-209225400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:209210600-209220600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:209210600-209221400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:209212000-209223600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:209214200-209221600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:209214400-209220600	Strong transcription	HSMM	muscle
37	chr2:209215000-209225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:209215200-209220600	Strong transcription	NH-A	brain
39	chr2:209215200-209223800	Strong transcription	GM12878-XiMat	blood
40	chr2:209215200-209224400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:209215400-209220600	Strong transcription	Left Ventricle	heart
42	chr2:209215400-209221400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr2:209215400-209222000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:209215400-209224400	Strong transcription	Primary T cells from cord blood	blood
45	chr2:209215800-209222200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:209216000-209220600	Strong transcription	Fetal Lung	lung
47	chr2:209216200-209220600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:209216400-209220600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr2:209216800-209225000	Weak transcription	Spleen	Spleen
50	chr2:209216800-209226800	Weak transcription	Brain Germinal Matrix	brain

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