Variant report

Variant	rs74027427
Chromosome Location	chr16:75608618-75608619
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75607281..75609260-chr16:75609267..75612734,3	K562	blood:
2	chr16:75598960..75602885-chr16:75604556..75608989,5	K562	blood:
3	chr16:75589355..75592242-chr16:75608320..75611115,2	K562	blood:
4	chr16:75599241..75602314-chr16:75606211..75609238,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TERF2IP-5	chr16:75607138-75608675	NONHSAT143746

Variant related genes	Relation type
ENSG00000034713	Chromatin interaction
ENSG00000205084	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11556641	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16940260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940961	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941287	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941301	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941409	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941516	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16942032	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2164246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550320	1.00[AMR][1000 genomes]
rs2550889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2550897	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550900	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550902	0.86[EUR][1000 genomes]
rs2550903	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550905	0.80[EUR][1000 genomes]
rs2550906	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550907	0.86[EUR][1000 genomes]
rs2550914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2550915	1.00[EUR][1000 genomes]
rs2641803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2641807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2650406	0.86[EUR][1000 genomes]
rs2650410	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2650411	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2738800	1.00[AMR][1000 genomes]
rs55714466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862257	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030666	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56321575	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60919196	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7194333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72563121	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73610805	0.86[EUR][1000 genomes]
rs74024796	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027409	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74027420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74027424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74027432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74027433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74027436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027439	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027441	1.00[EUR][1000 genomes]
rs74027443	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8192515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs920037	1.00[AMR][1000 genomes];0.86[EUR][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	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75601200-75624400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:75601400-75610200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:75601600-75608800	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr16:75601600-75609600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr16:75601600-75613400	Strong transcription	NH-A	brain
6	chr16:75601600-75613800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:75601600-75613800	Strong transcription	A549	lung
8	chr16:75601600-75614400	Genic enhancers	Brain Anterior Caudate	brain
9	chr16:75601600-75615200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:75601600-75615400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:75601800-75608800	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr16:75601800-75608800	Genic enhancers	Brain Hippocampus Middle	brain
13	chr16:75601800-75608800	Strong transcription	HUVEC	blood vessel
14	chr16:75601800-75609000	Strong transcription	NHEK	skin
15	chr16:75601800-75609400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr16:75601800-75609800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:75601800-75609800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr16:75601800-75612000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:75601800-75612800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr16:75601800-75614400	Strong transcription	Thymus	Thymus
21	chr16:75601800-75615400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr16:75602000-75609200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:75602000-75612400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:75602000-75612800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:75602000-75613200	Strong transcription	HepG2	liver
26	chr16:75602000-75613200	Strong transcription	NHLF	lung
27	chr16:75602000-75613600	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr16:75602000-75614000	Strong transcription	Fetal Lung	lung
29	chr16:75602000-75614200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr16:75602000-75614200	Strong transcription	Osteobl	bone
31	chr16:75602000-75614400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:75602000-75614600	Strong transcription	Placenta	Placenta
33	chr16:75602000-75615000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr16:75602000-75615200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr16:75602200-75609000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:75602200-75609400	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr16:75602200-75610400	Strong transcription	HSMM	muscle
38	chr16:75602200-75614400	Strong transcription	Fetal Intestine Large	intestine
39	chr16:75602200-75614800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:75602400-75609000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr16:75602600-75610600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:75602600-75614200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:75602600-75614400	Strong transcription	Fetal Brain Female	brain
44	chr16:75602800-75609000	Strong transcription	Fetal Kidney	kidney
45	chr16:75602800-75612600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr16:75602800-75613800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr16:75602800-75614400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr16:75602800-75615400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:75603000-75614800	Strong transcription	Primary T cells from cord blood	blood
50	chr16:75603200-75612600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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