Variant report

Variant	rs16847930
Chromosome Location	chr3:137951194-137951195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10513051	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs16847928	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[AMR][1000 genomes]
rs16847937	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs16848090	1.00[AMR][1000 genomes]
rs6800313	1.00[AMR][1000 genomes]
rs73864514	1.00[AMR][1000 genomes]
rs7639582	1.00[AMR][1000 genomes]
rs7639632	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877536	chr3:137870523-137970907	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16847930	PLA2G4C	trans	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137908400-137956200	Weak transcription	A549	lung
2	chr3:137919200-137964800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:137926000-137951200	Weak transcription	Fetal Heart	heart
4	chr3:137940200-137970600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:137940400-137951800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:137940400-137953200	Strong transcription	HSMM	muscle
7	chr3:137940400-137969200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:137940400-137970600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:137940600-137952400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:137940600-137971200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:137940800-137952200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr3:137941000-137952200	Strong transcription	Placenta	Placenta
13	chr3:137941000-137952400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:137941000-137968200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:137941000-137968600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:137941400-137952200	Strong transcription	Fetal Intestine Large	intestine
17	chr3:137941600-137952000	Strong transcription	Thymus	Thymus
18	chr3:137941600-137952200	Strong transcription	Fetal Thymus	thymus
19	chr3:137941600-137957400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr3:137941600-137962400	Strong transcription	Liver	Liver
21	chr3:137941600-137967200	Strong transcription	Dnd41	blood
22	chr3:137941600-137968000	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr3:137941800-137952400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr3:137941800-137966800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr3:137942000-137962000	Strong transcription	Primary B cells from cord blood	blood
26	chr3:137942000-137968000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:137942200-137952200	Strong transcription	Primary hematopoietic stem cells	blood
28	chr3:137942200-137952400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr3:137942200-137952600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:137942200-137966400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr3:137942200-137967800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:137942400-137958800	Strong transcription	Adipose Nuclei	Adipose
33	chr3:137942400-137970600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:137942600-137951400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr3:137942600-137952400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr3:137942600-137965800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:137942600-137968600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr3:137942600-137970600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr3:137942800-137993400	Weak transcription	Fetal Brain Male	brain
40	chr3:137943200-137954800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr3:137943600-137953000	Weak transcription	Small Intestine	intestine
42	chr3:137943600-137955000	Weak transcription	Stomach Mucosa	stomach
43	chr3:137943600-137957200	Weak transcription	Brain Substantia Nigra	brain
44	chr3:137943600-137992000	Weak transcription	Gastric	stomach
45	chr3:137944200-137992000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:137944600-137971400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:137944800-137951400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:137944800-137954600	Weak transcription	Esophagus	oesophagus
49	chr3:137944800-137967600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr3:137944800-137984400	Weak transcription	Spleen	Spleen

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