Variant report

Variant	rs62180253
Chromosome Location	chr2:182178044-182178045
allele	G/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:30)

rs_ID	r²[population]
rs11690881	0.81[ASN][1000 genomes]
rs17198633	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17198689	0.91[ASN][1000 genomes]
rs17198696	0.91[ASN][1000 genomes]
rs17198703	0.91[ASN][1000 genomes]
rs17198710	0.91[ASN][1000 genomes]
rs17198717	0.91[ASN][1000 genomes]
rs17270868	0.94[ASN][1000 genomes]
rs17270882	0.89[ASN][1000 genomes]
rs17270889	0.91[ASN][1000 genomes]
rs17270896	0.83[ASN][1000 genomes]
rs17270903	0.81[ASN][1000 genomes]
rs17365432	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35262123	0.81[ASN][1000 genomes]
rs62180233	0.81[ASN][1000 genomes]
rs62180234	0.81[ASN][1000 genomes]
rs62180242	0.84[ASN][1000 genomes]
rs62180243	0.84[ASN][1000 genomes]
rs62180246	0.84[ASN][1000 genomes]
rs62180252	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62180258	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62182269	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62189833	0.85[ASN][1000 genomes]
rs62189855	0.84[ASN][1000 genomes]
rs62189857	0.84[ASN][1000 genomes]
rs62189858	0.84[ASN][1000 genomes]
rs62189859	0.82[ASN][1000 genomes]
rs6726597	0.91[ASN][1000 genomes]
rs6726903	0.91[ASN][1000 genomes]
rs9646799	0.84[ASN][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182172200-182179000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:182174600-182179600	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:182174600-182179600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:182174800-182180000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:182174800-182180400	Enhancers	Dnd41	blood
6	chr2:182175400-182179600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:182175400-182179600	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:182175600-182179600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:182176600-182178600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr2:182177400-182179200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:182177400-182179600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:182177400-182179800	Enhancers	Primary B cells from cord blood	blood
13	chr2:182177600-182178800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:182177600-182179200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:182177600-182179400	Weak transcription	Thymus	Thymus
16	chr2:182177600-182180200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr2:182177600-182180200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:182177800-182179200	Weak transcription	Fetal Thymus	thymus
19	chr2:182177800-182179600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:182177800-182180000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:182177800-182186800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:182178000-182178200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:182178000-182178200	Enhancers	GM12878-XiMat	blood
24	chr2:182178000-182179600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr2:182178000-182179600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:182178000-182180000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:182178000-182180200	Enhancers	Primary T cells from cord blood	blood

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