Variant report

Variant	rs34467063
Chromosome Location	chr2:182013979-182013980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182013926..182016725-chr2:182035700..182038475,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11678840	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11688120	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692430	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11692625	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693055	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11893772	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11893821	0.98[ASN][1000 genomes]
rs12999974	0.98[ASN][1000 genomes]
rs13002424	0.83[AMR][1000 genomes]
rs13004683	0.82[ASN][1000 genomes]
rs13004750	0.84[ASN][1000 genomes]
rs13011738	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019038	0.80[ASN][1000 genomes]
rs13026070	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13029217	0.86[AMR][1000 genomes]
rs13031518	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13033038	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13033467	0.98[ASN][1000 genomes]
rs13035276	0.85[AMR][1000 genomes]
rs34405919	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34504038	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34700861	0.88[AMR][1000 genomes]
rs34714467	0.98[ASN][1000 genomes]
rs34774580	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34790351	0.86[AMR][1000 genomes]
rs34825850	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35076700	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35110674	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs35190308	0.81[AMR][1000 genomes]
rs35250663	0.88[AMR][1000 genomes]
rs35323141	0.94[ASN][1000 genomes]
rs35357451	0.83[AMR][1000 genomes]
rs35482602	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35543145	0.98[ASN][1000 genomes]
rs35598315	0.85[AMR][1000 genomes]
rs35702511	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35725888	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4514840	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55900432	0.98[ASN][1000 genomes]
rs55954384	0.98[ASN][1000 genomes]
rs56085338	0.85[AMR][1000 genomes]
rs56096261	0.85[AMR][1000 genomes]
rs56692685	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59639779	0.90[ASN][1000 genomes]
rs6709702	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6716261	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6719732	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6724365	0.83[AMR][1000 genomes]
rs6743720	0.88[ASN][1000 genomes]
rs6746347	0.98[ASN][1000 genomes]
rs6752921	0.88[AMR][1000 genomes]
rs6759865	0.98[ASN][1000 genomes]
rs72887083	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72888919	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72890540	0.81[AMR][1000 genomes]
rs7349232	0.84[ASN][1000 genomes]
rs7558428	0.98[ASN][1000 genomes]
rs7581267	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7598010	0.85[AMR][1000 genomes]
rs7598960	0.98[ASN][1000 genomes]

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	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181999600-182022000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:182009800-182014200	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr2:182009800-182016600	Weak transcription	Dnd41	blood
4	chr2:182010000-182014400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr2:182010000-182015000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr2:182010600-182014600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:182010800-182015200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:182010800-182021000	Weak transcription	Fetal Thymus	thymus
9	chr2:182011400-182020800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:182012000-182017000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:182012400-182014400	Enhancers	Primary T cells from cord blood	blood
12	chr2:182012600-182014200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:182012600-182014400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:182012600-182014600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:182013000-182014200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr2:182013000-182014400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:182013200-182014400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:182013200-182014600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:182013800-182014000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr2:182013800-182014400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:182013800-182014400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:182013800-182017200	Weak transcription	Colon Smooth Muscle	Colon

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