Variant report

Variant	rs247429
Chromosome Location	chr16:75439706-75439707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12447800	1.00[ASN][1000 genomes]
rs17605723	0.84[EUR][1000 genomes]
rs17605814	0.87[EUR][1000 genomes]
rs17606084	0.90[EUR][1000 genomes]
rs17674257	0.87[EUR][1000 genomes]
rs187435	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2454860	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs247441	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs247451	0.88[EUR][1000 genomes]
rs3094015	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs37586	0.88[EUR][1000 genomes]
rs37590	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs385265	1.00[ASN][1000 genomes]
rs391192	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4243113	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs451589	0.90[EUR][1000 genomes]
rs469176	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58518445	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6564246	0.84[EUR][1000 genomes]
rs66885758	0.87[EUR][1000 genomes]
rs66886787	0.87[EUR][1000 genomes]
rs67836283	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7185976	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7192448	0.90[EUR][1000 genomes]
rs7193299	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199718	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7202997	0.90[EUR][1000 genomes]
rs72787117	0.90[EUR][1000 genomes]
rs72787126	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787129	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787135	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72787147	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787159	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787163	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787169	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72787179	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72787185	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72787193	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72804118	0.83[EUR][1000 genomes]
rs72804120	0.85[EUR][1000 genomes]
rs72804135	0.86[EUR][1000 genomes]
rs72804140	0.87[EUR][1000 genomes]
rs72804141	0.87[EUR][1000 genomes]
rs72804154	0.87[EUR][1000 genomes]
rs72804155	0.87[EUR][1000 genomes]
rs72804160	0.87[EUR][1000 genomes]
rs72804161	0.86[EUR][1000 genomes]
rs72804162	0.86[EUR][1000 genomes]
rs8044442	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8055093	0.95[AMR][1000 genomes];0.97[EUR][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	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	esv2422358	chr16:75381762-75456763	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
6	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv1062023	chr16:75427013-75461626	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75406000-75453400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:75407200-75454200	Weak transcription	Stomach Mucosa	stomach
3	chr16:75409200-75445400	Weak transcription	Colonic Mucosa	Colon
4	chr16:75412600-75446000	Weak transcription	Brain Substantia Nigra	brain
5	chr16:75415400-75443200	Weak transcription	Small Intestine	intestine
6	chr16:75415600-75453400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr16:75425400-75454200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr16:75425400-75457200	Weak transcription	Fetal Brain Male	brain
9	chr16:75427000-75443400	Weak transcription	Hela-S3	cervix
10	chr16:75427200-75440000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:75427200-75441600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr16:75427200-75443400	Weak transcription	Fetal Kidney	kidney
13	chr16:75427200-75445000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr16:75427200-75445400	Weak transcription	Brain Angular Gyrus	brain
15	chr16:75427200-75445400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:75427200-75445400	Weak transcription	A549	lung
17	chr16:75427200-75445400	Weak transcription	K562	blood
18	chr16:75427200-75446200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr16:75427200-75449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:75427200-75464400	Weak transcription	Esophagus	oesophagus
21	chr16:75427200-75465400	Weak transcription	Spleen	Spleen
22	chr16:75427600-75441000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr16:75428200-75453400	Weak transcription	Psoas Muscle	Psoas
24	chr16:75428400-75441600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:75429000-75440000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr16:75429000-75443200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr16:75429000-75445000	Weak transcription	Lung	lung
28	chr16:75429000-75454400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr16:75429000-75454800	Weak transcription	HMEC	breast
30	chr16:75429200-75439800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr16:75429200-75440000	Weak transcription	Thymus	Thymus
32	chr16:75429200-75440200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:75429200-75440200	Weak transcription	Placenta	Placenta
34	chr16:75429200-75440400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr16:75429200-75440600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr16:75429200-75440800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr16:75429200-75441000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr16:75429200-75441400	Weak transcription	Colon Smooth Muscle	Colon
39	chr16:75429200-75441600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr16:75429200-75441800	Weak transcription	Brain Germinal Matrix	brain
41	chr16:75429200-75441800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr16:75429200-75443000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr16:75429200-75443000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr16:75429200-75443200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr16:75429200-75445000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr16:75429200-75453400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr16:75429200-75454800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr16:75429200-75455000	Weak transcription	Gastric	stomach
49	chr16:75429400-75440400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr16:75429400-75440800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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