Variant report

Variant	rs830735
Chromosome Location	chr16:12330533-12330534
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12299412..12301084-chr16:12329409..12330964,2	K562	blood:
2	chr16:12321706..12323934-chr16:12329346..12331176,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11075062	0.88[GIH][hapmap]
rs2941082	0.81[EUR][1000 genomes]
rs2941085	0.81[EUR][1000 genomes]
rs4781214	0.85[GIH][hapmap]
rs709425	0.94[ASN][1000 genomes]
rs830715	0.83[EUR][1000 genomes]
rs830717	0.81[CEU][hapmap];0.89[CHB][hapmap];0.84[CHD][hapmap];0.80[JPT][hapmap];0.84[EUR][1000 genomes]
rs830718	0.86[EUR][1000 genomes]
rs830719	0.80[EUR][1000 genomes]
rs830727	0.85[CEU][hapmap];0.81[CHD][hapmap]
rs864935	0.80[EUR][1000 genomes]
rs868773	0.82[GIH][hapmap]

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	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv905348	chr16:12299936-12358206	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs830735	C16orf72	cis	cerebellum	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12297400-12353800	Weak transcription	Gastric	stomach
2	chr16:12308000-12371400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:12309800-12371200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr16:12311800-12333400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr16:12320200-12332600	Weak transcription	Brain Germinal Matrix	brain
6	chr16:12322400-12338000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr16:12322600-12353600	Weak transcription	Lung	lung
8	chr16:12323000-12330600	Weak transcription	Spleen	Spleen
9	chr16:12323000-12348600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:12323400-12394200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr16:12323800-12332600	Weak transcription	Esophagus	oesophagus
12	chr16:12323800-12332600	Weak transcription	Pancreas	Pancrea
13	chr16:12323800-12373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr16:12324400-12332800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:12324400-12340600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr16:12324600-12334400	Weak transcription	Fetal Intestine Large	intestine
17	chr16:12324600-12337400	Weak transcription	Fetal Intestine Small	intestine
18	chr16:12325600-12339600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr16:12326000-12332200	Weak transcription	NHEK	skin
20	chr16:12326000-12334000	Weak transcription	Fetal Stomach	stomach
21	chr16:12326000-12334600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr16:12326800-12331000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:12326800-12333200	Weak transcription	NHLF	lung
24	chr16:12328400-12330600	Enhancers	Brain Cingulate Gyrus	brain
25	chr16:12328600-12330800	Enhancers	NHDF-Ad	bronchial
26	chr16:12329000-12331200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:12329000-12332800	Weak transcription	Brain Anterior Caudate	brain
28	chr16:12329200-12332600	Weak transcription	Left Ventricle	heart
29	chr16:12329200-12332800	Weak transcription	Right Ventricle	heart
30	chr16:12329200-12333000	Weak transcription	Aorta	Aorta
31	chr16:12329200-12333000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr16:12329200-12334000	Weak transcription	Psoas Muscle	Psoas
33	chr16:12329400-12331200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:12329400-12332800	Weak transcription	Brain Hippocampus Middle	brain
35	chr16:12329400-12332800	Weak transcription	Ovary	ovary
36	chr16:12329400-12332800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr16:12329400-12333000	Weak transcription	Adipose Nuclei	Adipose
38	chr16:12329400-12333400	Weak transcription	Osteobl	bone
39	chr16:12329400-12333800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr16:12329400-12333800	Weak transcription	HSMMtube	muscle
41	chr16:12329400-12334400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr16:12329600-12330800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:12329600-12331200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:12329600-12333800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr16:12329600-12334000	Weak transcription	Brain Angular Gyrus	brain
46	chr16:12329800-12330800	Strong transcription	Primary B cells from cord blood	blood
47	chr16:12329800-12333800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:12330000-12330600	Enhancers	Brain Substantia Nigra	brain
49	chr16:12330000-12330600	Enhancers	Fetal Brain Female	brain
50	chr16:12330000-12330800	Strong transcription	Primary T cells from cord blood	blood

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