Variant report

Variant	rs12623733
Chromosome Location	chr2:182176868-182176869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10178445	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10183522	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10497578	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12613489	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12621029	0.81[EUR][1000 genomes]
rs12621069	0.81[EUR][1000 genomes]
rs16823661	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16867395	0.81[EUR][1000 genomes]
rs16867396	0.81[EUR][1000 genomes]
rs16867398	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16867399	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867403	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867404	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867407	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867409	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867411	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16867412	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16867414	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16867415	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16867417	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16867418	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16867421	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4627521	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58869569	0.81[EUR][1000 genomes]
rs60453369	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60481141	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61097715	0.80[EUR][1000 genomes];0.88[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182172200-182178000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:182172200-182179000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:182174600-182179600	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:182174600-182179600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:182174800-182177000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:182174800-182177200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:182174800-182180000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:182174800-182180400	Enhancers	Dnd41	blood
9	chr2:182175400-182177000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:182175400-182177000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:182175400-182179600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:182175400-182179600	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:182175600-182177200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:182175600-182177200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:182175600-182177600	Enhancers	Thymus	Thymus
16	chr2:182175600-182177800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr2:182175600-182177800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:182175600-182177800	Enhancers	Fetal Thymus	thymus
19	chr2:182175600-182179600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr2:182176200-182177400	Flanking Active TSS	GM12878-XiMat	blood
21	chr2:182176200-182177600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:182176600-182177400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:182176600-182177600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr2:182176600-182178600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr2:182176800-182177000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:182176800-182177400	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr2:182176800-182177400	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr2:182176800-182177600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr2:182176800-182177800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:182176800-182178000	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr2:182176800-182178000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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