Variant report

Variant	rs2599268
Chromosome Location	chr2:173494422-173494423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173492299..173494515-chr2:173498149..173499767,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1097478	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1133602	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12476204	0.82[ASN][1000 genomes]
rs12693008	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13015260	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13024563	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1531150	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16860737	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16860741	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1868901	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1869923	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2599260	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2599261	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2599262	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2599263	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2599264	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2599265	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2599266	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2606062	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2606063	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2606064	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2606065	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2606066	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2606067	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2606070	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2606073	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35892983	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6731354	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6733679	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs836590	0.86[ASN][1000 genomes]
rs836608	0.81[ASN][1000 genomes]
rs836614	0.81[ASN][1000 genomes]
rs836616	0.81[ASN][1000 genomes]
rs836617	0.81[ASN][1000 genomes]
rs836629	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs836630	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs836631	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs836632	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs836634	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv875415	chr2:173444462-173501069	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv875416	chr2:173444462-173504674	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv875417	chr2:173460803-173501069	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875418	chr2:173460803-173504674	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv2762962	chr2:173493078-173527311	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173461400-173504200	Weak transcription	NHEK	skin
2	chr2:173462200-173507400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:173465600-173495200	Weak transcription	Ovary	ovary
4	chr2:173471800-173495600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:173472600-173504600	Weak transcription	Adipose Nuclei	Adipose
6	chr2:173474600-173504400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:173478800-173496800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:173479600-173495800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:173479600-173496200	Weak transcription	Thymus	Thymus
10	chr2:173479800-173494600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:173479800-173496000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:173480000-173495000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:173480000-173495200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:173480000-173496000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:173480200-173495800	Weak transcription	GM12878-XiMat	blood
16	chr2:173480200-173499200	Weak transcription	HepG2	liver
17	chr2:173485800-173497200	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:173489200-173496200	Weak transcription	Fetal Thymus	thymus
19	chr2:173489200-173507200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:173489400-173500400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:173489400-173504200	Weak transcription	NHLF	lung
22	chr2:173490200-173500600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:173490400-173497200	Weak transcription	HSMM	muscle
24	chr2:173491400-173494800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:173491800-173494600	Strong transcription	Primary T cells from cord blood	blood
26	chr2:173491800-173494800	Strong transcription	Primary B cells from cord blood	blood
27	chr2:173491800-173494800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:173492000-173494800	Strong transcription	Dnd41	blood
29	chr2:173492200-173494800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:173492800-173494600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:173492800-173494600	Strong transcription	Fetal Stomach	stomach
32	chr2:173492800-173497600	Weak transcription	Fetal Brain Female	brain
33	chr2:173493000-173494600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:173494000-173494600	Enhancers	Fetal Brain Male	brain
35	chr2:173494200-173494600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:173494200-173494600	ZNF genes & repeats	Aorta	Aorta
37	chr2:173494200-173494600	ZNF genes & repeats	Esophagus	oesophagus
38	chr2:173494200-173494600	ZNF genes & repeats	Lung	lung
39	chr2:173494200-173494600	ZNF genes & repeats	Spleen	Spleen
40	chr2:173494400-173494600	Enhancers	Fetal Muscle Leg	muscle

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