Variant report

Variant	rs16988936
Chromosome Location	chr22:31050292-31050293
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PES1-1	chr22:31050285-31050801	NONHSAT084796

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11914089	0.98[ASN][1000 genomes]
rs12168004	0.96[ASN][1000 genomes]
rs13433541	0.95[ASN][1000 genomes]
rs16988855	0.82[CHB][hapmap];0.89[JPT][hapmap];0.92[EUR][1000 genomes]
rs2009857	0.85[EUR][1000 genomes]
rs2013928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2072195	0.82[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2267162	0.86[CHB][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes]
rs2267165	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2267166	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2283873	0.82[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap]
rs41279965	0.84[AMR][1000 genomes]
rs4149486	1.00[GIH][hapmap]
rs55844758	0.97[ASN][1000 genomes]
rs5994329	0.94[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs5997719	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5997722	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs5997728	0.95[ASN][1000 genomes]
rs72558391	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7288385	0.92[EUR][1000 genomes]
rs7288627	0.92[EUR][1000 genomes]
rs7290898	0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs73396395	0.92[EUR][1000 genomes]
rs73398305	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8135379	0.95[ASN][1000 genomes]
rs8135450	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8141515	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9306264	0.95[ASN][1000 genomes]
rs9606761	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9606762	0.85[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9619128	0.93[ASN][1000 genomes]
rs9621051	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv966102	chr22:31049706-31050816	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31032400-31052400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:31033200-31052000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:31033400-31058200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr22:31033600-31058000	Weak transcription	Adipose Nuclei	Adipose
5	chr22:31033600-31058000	Weak transcription	Fetal Lung	lung
6	chr22:31033800-31057600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:31034000-31059400	Weak transcription	Aorta	Aorta
8	chr22:31034200-31057800	Weak transcription	Colon Smooth Muscle	Colon
9	chr22:31034200-31058800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr22:31039400-31050600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:31040200-31060800	Weak transcription	Fetal Brain Male	brain
12	chr22:31040600-31055800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr22:31043600-31055400	Weak transcription	Fetal Stomach	stomach
14	chr22:31043800-31051600	Weak transcription	Primary T cells from cord blood	blood
15	chr22:31044200-31050400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr22:31044200-31057600	Weak transcription	Ovary	ovary
17	chr22:31044200-31058000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr22:31045200-31062800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr22:31045400-31057600	Weak transcription	Colonic Mucosa	Colon
20	chr22:31045400-31057600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr22:31045400-31062800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr22:31045400-31062800	Weak transcription	NH-A	brain
23	chr22:31045600-31058200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr22:31045600-31062800	Weak transcription	HSMMtube	muscle
25	chr22:31045800-31050400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:31045800-31057600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr22:31045800-31057800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr22:31045800-31061400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr22:31045800-31062200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr22:31046000-31054800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr22:31046000-31057600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr22:31046000-31057600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr22:31046000-31057600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr22:31046000-31057600	Weak transcription	NHDF-Ad	bronchial
35	chr22:31046000-31057800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr22:31046000-31057800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr22:31046000-31057800	Weak transcription	Osteobl	bone
38	chr22:31046000-31058000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr22:31046000-31058400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr22:31046000-31062000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr22:31046000-31062200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr22:31046000-31062600	Weak transcription	HMEC	breast
43	chr22:31046000-31062600	Weak transcription	NHLF	lung
44	chr22:31046800-31057600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr22:31046800-31057600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr22:31046800-31057600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr22:31046800-31062000	Weak transcription	Stomach Mucosa	stomach
48	chr22:31047000-31050400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr22:31047000-31050400	Weak transcription	Lung	lung
50	chr22:31047000-31050400	Weak transcription	Monocytes-CD14+_RO01746	blood

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