Variant report

Variant	rs61730073
Chromosome Location	chr16:69727079-69727080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11859488	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860750	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11861496	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11861500	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11862202	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11863013	0.92[AFR][1000 genomes]
rs11864406	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11864525	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11865019	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11866304	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13330277	0.86[AFR][1000 genomes]
rs16958889	1.00[AMR][1000 genomes]
rs16958892	1.00[AMR][1000 genomes]
rs28525492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499233	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499235	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499236	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499242	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499245	0.94[AFR][1000 genomes]
rs689459	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7185263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7185430	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7186199	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187272	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188149	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7190711	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195974	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7196193	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7199248	1.00[AMR][1000 genomes]
rs7204285	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7204339	1.00[AMR][1000 genomes]
rs8047310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049055	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8052967	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053497	1.00[AMR][1000 genomes]
rs8054678	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056135	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8058514	0.92[AFR][1000 genomes]
rs8058669	1.00[AMR][1000 genomes]
rs8059310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059311	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059804	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8060543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063483	1.00[AMR][1000 genomes]
rs9746717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921129	0.95[AFR][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	nsv906822	chr16:69711533-69745145	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	esv3396845	chr16:69721905-69770627	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69667000-69727600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:69701800-69739200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr16:69704600-69737800	Strong transcription	Liver	Liver
4	chr16:69708800-69739600	Strong transcription	Placenta	Placenta
5	chr16:69709000-69739400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:69709400-69755400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:69709800-69737000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:69710000-69737400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:69710800-69732000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr16:69715200-69737800	Strong transcription	HepG2	liver
11	chr16:69722200-69730000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:69722400-69730200	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr16:69722400-69731800	Strong transcription	Osteobl	bone
14	chr16:69722400-69732600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr16:69722400-69737200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr16:69722600-69734600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr16:69722600-69738800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:69722800-69732200	Strong transcription	NH-A	brain
19	chr16:69722800-69739400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr16:69723400-69731800	Strong transcription	Hela-S3	cervix
21	chr16:69723400-69732000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr16:69723400-69732000	Strong transcription	HMEC	breast
23	chr16:69723600-69731800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr16:69723600-69733800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr16:69723600-69736200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr16:69723800-69728000	Strong transcription	K562	blood
27	chr16:69723800-69730000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:69723800-69732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:69723800-69732000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr16:69723800-69733800	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr16:69723800-69739200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr16:69724000-69730600	Strong transcription	Brain Anterior Caudate	brain
33	chr16:69724000-69731800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr16:69724000-69732600	Strong transcription	Dnd41	blood
35	chr16:69724400-69728400	Strong transcription	Colonic Mucosa	Colon
36	chr16:69724400-69730400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr16:69724400-69730400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:69724400-69731000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr16:69724600-69731800	Strong transcription	Primary B cells from cord blood	blood
40	chr16:69724600-69732200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr16:69724600-69732600	Strong transcription	Fetal Thymus	thymus
42	chr16:69724600-69733400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:69724600-69738400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr16:69724800-69729200	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr16:69724800-69729400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr16:69724800-69730200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:69724800-69730400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr16:69724800-69731800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr16:69724800-69731800	Strong transcription	HUVEC	blood vessel
50	chr16:69724800-69731800	Strong transcription	NHEK	skin

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