Variant report

Variant	rs992028
Chromosome Location	chr2:210295164-210295165
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10153809	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174291	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185216	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10200389	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200539	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201740	0.94[EUR][1000 genomes]
rs10210266	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932297	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10932301	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678209	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11889366	0.90[ASN][1000 genomes]
rs11900413	0.94[ASN][1000 genomes]
rs11904626	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614926	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12614974	0.95[ASN][1000 genomes]
rs12617330	0.93[ASN][1000 genomes]
rs12621534	0.93[ASN][1000 genomes]
rs12622130	0.93[ASN][1000 genomes]
rs12623404	0.96[ASN][1000 genomes]
rs12623555	0.92[ASN][1000 genomes]
rs12694180	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13005529	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13020975	0.93[EUR][1000 genomes]
rs13023264	0.90[ASN][1000 genomes]
rs13024490	0.93[ASN][1000 genomes]
rs13028173	0.93[ASN][1000 genomes]
rs13028553	0.93[ASN][1000 genomes]
rs13033819	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13034750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13391766	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13391768	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1374333	0.93[ASN][1000 genomes]
rs1446596	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16842875	0.93[ASN][1000 genomes]
rs16842884	0.93[ASN][1000 genomes]
rs17236116	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028893	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2123701	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28556312	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558587	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28610349	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35424736	0.82[ASN][1000 genomes]
rs60358187	0.96[ASN][1000 genomes]
rs6435528	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435529	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733750	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6751612	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761283	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72492734	0.82[ASN][1000 genomes]
rs72995681	1.00[ASN][1000 genomes]
rs73060566	0.82[ASN][1000 genomes]
rs7557610	0.93[ASN][1000 genomes]
rs7563521	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7568431	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568858	0.93[ASN][1000 genomes]
rs7569773	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575409	0.93[ASN][1000 genomes]
rs7577392	0.94[ASN][1000 genomes]
rs7580883	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7593008	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7594469	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7594842	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595924	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602104	0.93[ASN][1000 genomes]
rs7608377	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7608854	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288407	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs993784	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967799	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1005298	chr2:210277791-210318067	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 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	chr2:210290000-210300200	Weak transcription	Pancreas	Pancrea
2	chr2:210290200-210296400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:210290200-210296400	Weak transcription	Osteobl	bone
4	chr2:210290200-210300200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:210290600-210296200	Weak transcription	NH-A	brain
6	chr2:210290800-210295800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:210290800-210296200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:210291400-210296400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:210291400-210296800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:210291600-210295800	Weak transcription	HMEC	breast
11	chr2:210291600-210296200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:210291600-210296400	Weak transcription	Aorta	Aorta
13	chr2:210291600-210296600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:210291800-210295400	Weak transcription	NHEK	skin
15	chr2:210291800-210296200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:210292000-210295600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:210292000-210295800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:210292800-210295600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:210292800-210295800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:210293000-210295600	Weak transcription	Brain Germinal Matrix	brain
21	chr2:210293200-210296400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:210293200-210304000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:210293400-210296200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:210293400-210296200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:210293600-210296400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:210293600-210296400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:210293600-210298000	Weak transcription	Fetal Brain Female	brain
28	chr2:210293600-210302600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:210294400-210296800	Enhancers	Fetal Brain Male	brain
30	chr2:210294600-210295200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:210294600-210296400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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