Variant report

Variant	rs60778835
Chromosome Location	chr16:48360253-48360254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48360059..48362918-chr16:48364363..48366817,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs35374298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57503116	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57833761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57937994	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60654623	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60747434	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7192772	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550078	1.00[AMR][1000 genomes]
rs73550084	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550090	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550093	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550096	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550097	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550099	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551446	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551462	1.00[AMR][1000 genomes]
rs73551474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73552007	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73555664	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562026	1.00[AMR][1000 genomes]
rs73562044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562047	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562067	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562076	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048632	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053521	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056369	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48334800-48361400	Strong transcription	Liver	Liver
2	chr16:48338600-48381200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:48339400-48368000	Weak transcription	Colonic Mucosa	Colon
4	chr16:48342200-48368000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr16:48343400-48375600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:48344600-48368200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:48345800-48363200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr16:48346600-48364200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr16:48346600-48368200	Weak transcription	Colon Smooth Muscle	Colon
10	chr16:48346800-48368200	Weak transcription	A549	lung
11	chr16:48347000-48368000	Weak transcription	Hela-S3	cervix
12	chr16:48347000-48368000	Weak transcription	K562	blood
13	chr16:48347000-48368200	Weak transcription	Placenta	Placenta
14	chr16:48347000-48368200	Weak transcription	Gastric	stomach
15	chr16:48347000-48368400	Weak transcription	Esophagus	oesophagus
16	chr16:48347400-48360800	Weak transcription	Fetal Intestine Small	intestine
17	chr16:48347400-48368200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr16:48347600-48364200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr16:48347600-48364800	Weak transcription	Pancreas	Pancrea
20	chr16:48347600-48367400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr16:48347600-48367800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:48347600-48368200	Weak transcription	Aorta	Aorta
23	chr16:48347600-48384800	Weak transcription	Fetal Kidney	kidney
24	chr16:48347800-48367600	Weak transcription	Brain Germinal Matrix	brain
25	chr16:48347800-48367600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr16:48351600-48364400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:48351600-48368200	Weak transcription	NHEK	skin
28	chr16:48352000-48368200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr16:48352000-48369600	Weak transcription	HSMM	muscle
30	chr16:48352200-48395400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:48352800-48364200	Weak transcription	Brain Angular Gyrus	brain
32	chr16:48352800-48364600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr16:48352800-48367800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr16:48352800-48368200	Weak transcription	Ovary	ovary
35	chr16:48352800-48368200	Weak transcription	HSMMtube	muscle
36	chr16:48352800-48368400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr16:48353000-48367200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr16:48353200-48360600	Weak transcription	Brain Hippocampus Middle	brain
39	chr16:48353200-48364600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr16:48353200-48367800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr16:48353200-48368200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:48353400-48368000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr16:48353400-48368200	Weak transcription	Lung	lung
44	chr16:48353400-48368200	Weak transcription	Spleen	Spleen
45	chr16:48353600-48360400	Weak transcription	HUVEC	blood vessel
46	chr16:48353600-48368200	Weak transcription	Right Ventricle	heart
47	chr16:48353800-48364200	Weak transcription	Thymus	Thymus
48	chr16:48353800-48367800	Weak transcription	Fetal Lung	lung
49	chr16:48354000-48360800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr16:48354000-48360800	Weak transcription	Fetal Stomach	stomach

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