Variant report

Variant	rs62180252
Chromosome Location	chr2:182175221-182175222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1030964	0.81[EUR][1000 genomes]
rs1371616	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1595812	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17198633	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17198689	0.86[ASN][1000 genomes]
rs17198696	0.86[ASN][1000 genomes]
rs17198703	0.86[ASN][1000 genomes]
rs17198710	0.86[ASN][1000 genomes]
rs17198717	0.86[ASN][1000 genomes]
rs17270868	0.88[ASN][1000 genomes]
rs17270882	0.83[ASN][1000 genomes]
rs17270889	0.86[ASN][1000 genomes]
rs17365432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1899037	0.85[EUR][1000 genomes]
rs1946895	0.83[ASN][1000 genomes]
rs2033878	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4666738	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4666739	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56118925	0.91[ASN][1000 genomes]
rs62180205	0.83[ASN][1000 genomes]
rs62180206	0.85[ASN][1000 genomes]
rs62180233	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62180234	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62180242	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62180243	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62180246	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62180253	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62180258	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62182269	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62189833	0.80[ASN][1000 genomes]
rs6726597	0.86[ASN][1000 genomes]
rs6726903	0.86[ASN][1000 genomes]
rs73034937	0.87[ASN][1000 genomes]
rs7566314	0.84[EUR][1000 genomes]
rs976461	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182168600-182176800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr2:182172200-182176200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:182172200-182178000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:182172200-182179000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:182174600-182175600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:182174600-182175600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:182174600-182175600	Weak transcription	Thymus	Thymus
8	chr2:182174600-182176200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:182174600-182179600	Enhancers	Primary B cells from peripheral blood	blood
10	chr2:182174600-182179600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:182174800-182175600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:182174800-182175600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:182174800-182175600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:182174800-182175600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:182174800-182175600	Weak transcription	Fetal Thymus	thymus
16	chr2:182174800-182176200	Enhancers	GM12878-XiMat	blood
17	chr2:182174800-182176600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:182174800-182176800	Enhancers	Primary B cells from cord blood	blood
19	chr2:182174800-182176800	Enhancers	Primary T cells from cord blood	blood
20	chr2:182174800-182176800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:182174800-182176800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:182174800-182177000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:182174800-182177200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:182174800-182180000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:182174800-182180400	Enhancers	Dnd41	blood
26	chr2:182175000-182175400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr2:182175000-182175400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:182175000-182175400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:182175000-182175400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:182175000-182176600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:182175000-182176800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:182175200-182175400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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