Variant report

Variant	rs12614868
Chromosome Location	chr2:173085897-173085898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10803868	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930527	0.83[ASN][1000 genomes]
rs10930528	0.84[ASN][1000 genomes]
rs10930529	0.84[ASN][1000 genomes]
rs10930530	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930531	0.87[ASN][1000 genomes]
rs10930532	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10930533	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930534	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684103	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12476259	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12614495	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12617862	0.88[ASN][1000 genomes]
rs12692997	1.00[EUR][1000 genomes]
rs12990778	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12991095	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12995943	0.85[ASN][1000 genomes]
rs13019357	0.98[ASN][1000 genomes]
rs13034707	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13034957	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430020	0.88[EUR][1000 genomes]
rs1542676	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1812500	0.95[ASN][1000 genomes]
rs1906181	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054832	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357320	0.89[ASN][1000 genomes]
rs2884154	0.88[ASN][1000 genomes]
rs4467239	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4524096	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4571029	0.98[ASN][1000 genomes]
rs4583429	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4972710	0.84[ASN][1000 genomes]
rs4972711	0.94[ASN][1000 genomes]
rs4972712	0.94[ASN][1000 genomes]
rs4972713	0.85[ASN][1000 genomes]
rs4972715	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4972716	0.87[ASN][1000 genomes]
rs4972717	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4972718	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4972719	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4972723	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4972724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4972725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4972728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55919266	0.98[ASN][1000 genomes]
rs62168965	0.94[ASN][1000 genomes]
rs6433336	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433339	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433340	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6705155	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6708636	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709514	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714712	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6717806	0.87[ASN][1000 genomes]
rs6743328	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6747259	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6747365	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6751574	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7575468	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs963307	0.88[ASN][1000 genomes]
rs963308	0.98[ASN][1000 genomes]
rs9750439	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875413	chr2:173009413-173097343	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv3033	chr2:173063284-173108586	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173077600-173087200	Weak transcription	Thymus	Thymus
2	chr2:173079800-173092000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:173082200-173090600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:173082200-173090600	Weak transcription	HMEC	breast
5	chr2:173082200-173092000	Weak transcription	Esophagus	oesophagus
6	chr2:173082600-173087200	Weak transcription	Fetal Thymus	thymus
7	chr2:173083200-173092400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:173083400-173086600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:173084200-173088400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:173084600-173086400	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:173084600-173086800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:173084800-173087000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:173085000-173086000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:173085000-173086000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:173085000-173086000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:173085200-173087600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:173085200-173087600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:173085400-173087800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:173085600-173087400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:173085600-173087600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:173085800-173086200	Weak transcription	Primary T cells from cord blood	blood

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