Variant report

Variant	rs2479601
Chromosome Location	chr9:97183353-97183354
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10993189	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1752787	0.83[AMR][1000 genomes]
rs2479602	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3118756	0.84[CEU][hapmap]
rs3121039	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3131910	0.88[CEU][hapmap]
rs4744346	1.00[CEU][hapmap]
rs60125875	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs688165	1.00[CEU][hapmap]
rs7031496	1.00[CEU][hapmap]
rs7848227	1.00[CEU][hapmap]
rs9409512	0.92[CEU][hapmap]
rs9409513	0.89[CEU][hapmap]
rs9409537	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9409749	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9409759	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	18 gene(s)	inside rSNPs	diseases
2	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv982324	chr9:97139062-97200156	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97158000-97203200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr9:97160200-97183400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr9:97160400-97203600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr9:97164400-97185200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:97166400-97206400	Weak transcription	HSMMtube	muscle
6	chr9:97167800-97203600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:97169800-97207000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:97172000-97186000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr9:97172000-97203200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr9:97172000-97208400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr9:97172600-97204200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:97173200-97184000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:97174200-97207000	Weak transcription	Lung	lung
14	chr9:97174400-97183800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:97175600-97204200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr9:97175800-97202200	Weak transcription	Dnd41	blood
17	chr9:97176000-97183600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:97176000-97203800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:97176200-97184600	Weak transcription	Primary T cells from cord blood	blood
20	chr9:97176200-97192200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr9:97176200-97194800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr9:97176200-97195000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:97176200-97201000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr9:97176200-97203200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr9:97176200-97203600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr9:97176200-97203600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:97176200-97207000	Weak transcription	Left Ventricle	heart
28	chr9:97176400-97183600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr9:97176400-97203200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr9:97176600-97183600	Weak transcription	Adipose Nuclei	Adipose
31	chr9:97176600-97203400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr9:97176800-97203200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:97176800-97203600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr9:97176800-97218000	Weak transcription	Fetal Brain Female	brain
35	chr9:97177000-97203200	Weak transcription	Osteobl	bone
36	chr9:97177200-97201000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:97177200-97201000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:97177200-97203600	Weak transcription	Thymus	Thymus
39	chr9:97177200-97209400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr9:97177400-97201400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr9:97177400-97201400	Weak transcription	Fetal Thymus	thymus
42	chr9:97177400-97206400	Weak transcription	Gastric	stomach
43	chr9:97178000-97184600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr9:97178000-97192400	Weak transcription	Fetal Stomach	stomach
45	chr9:97178000-97203800	Weak transcription	K562	blood
46	chr9:97178200-97201000	Weak transcription	Fetal Muscle Leg	muscle
47	chr9:97178400-97203600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:97178400-97206800	Weak transcription	Esophagus	oesophagus
49	chr9:97179600-97201000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:97179800-97203200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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