Variant report

Variant	rs8047377
Chromosome Location	chr16:72148339-72148340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10400963	0.81[JPT][hapmap]
rs10492813	0.92[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10492814	0.92[CEU][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1050361	0.92[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1050362	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1050363	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10852511	0.80[JPT][hapmap]
rs11075922	0.85[ASN][1000 genomes]
rs11862813	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12325142	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12444701	0.93[ASN][1000 genomes]
rs12445401	0.94[ASN][1000 genomes]
rs12445586	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12448315	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12449073	0.81[JPT][hapmap];0.84[YRI][hapmap]
rs12708925	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12708926	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12708927	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12708928	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12924413	0.88[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12924886	0.85[ASN][1000 genomes]
rs12928732	0.85[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs12933838	0.83[ASN][1000 genomes]
rs13334151	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs16973716	0.80[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2000999	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2072141	0.87[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2072142	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2074626	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074627	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240243	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241411	0.81[JPT][hapmap]
rs2241412	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269918	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2287997	0.98[ASN][1000 genomes]
rs2303285	0.92[CEU][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550035	0.92[CEU][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2550038	0.92[CEU][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28432692	0.83[ASN][1000 genomes]
rs2854956	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34042070	0.83[ASN][1000 genomes]
rs34714490	0.84[ASN][1000 genomes]
rs35460163	0.84[ASN][1000 genomes]
rs3764311	0.92[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3764312	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3764314	0.92[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3794695	0.85[ASN][1000 genomes]
rs3812987	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3852781	0.92[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3852782	0.82[YRI][hapmap]
rs3902135	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5472	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56960650	0.80[ASN][1000 genomes]
rs57186116	0.81[ASN][1000 genomes]
rs6416742	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6499559	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6499560	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6499561	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6499562	0.80[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs6680	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7184169	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7188058	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7190995	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7191127	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7192730	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7194397	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7197453	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7197869	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7198572	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7940	0.82[JPT][hapmap]
rs8043606	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8044555	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8044868	0.80[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs8050238	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8051882	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052338	0.81[JPT][hapmap]
rs8052408	0.80[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs8058609	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8059378	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8059437	0.81[JPT][hapmap]
rs8061282	0.93[ASN][1000 genomes]
rs8061459	0.93[ASN][1000 genomes]
rs8062041	0.91[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9923344	0.80[ASN][1000 genomes]
rs9924964	0.80[JPT][hapmap]
rs9925763	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926927	0.92[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9928157	0.82[JPT][hapmap]
rs9932062	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9932951	0.81[JPT][hapmap];0.81[YRI][hapmap]
rs9933009	0.81[ASN][1000 genomes]
rs9941087	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9941346	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][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	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS 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	89 gene(s)	inside rSNPs	diseases
2	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8047377	DHX38	cis	multi-tissue	Pritchard
rs8047377	DHX38	cis	Lymphoblastoid	GTEx
rs8047377	DHODH	cis	Artery Tibial	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72129800-72149000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:72135600-72148400	Strong transcription	Fetal Muscle Leg	muscle
3	chr16:72136400-72148600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:72142800-72158600	Weak transcription	Fetal Brain Male	brain
5	chr16:72143000-72152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:72145800-72150000	Weak transcription	K562	blood
7	chr16:72145800-72150200	Weak transcription	Osteobl	bone
8	chr16:72145800-72152600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:72145800-72156000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:72145800-72160400	Weak transcription	HMEC	breast
11	chr16:72146400-72148400	Weak transcription	HSMM	muscle
12	chr16:72146400-72148800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr16:72146400-72158600	Weak transcription	Colon Smooth Muscle	Colon
14	chr16:72146400-72159000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr16:72146600-72152800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:72146600-72154600	Weak transcription	HUVEC	blood vessel
17	chr16:72146600-72155000	Weak transcription	Stomach Mucosa	stomach
18	chr16:72146600-72159000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr16:72146600-72159200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr16:72146600-72166600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:72146800-72148600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr16:72146800-72149000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr16:72146800-72150000	Weak transcription	A549	lung
24	chr16:72146800-72158400	Weak transcription	HepG2	liver
25	chr16:72146800-72158600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr16:72146800-72159000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr16:72146800-72159200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:72147000-72148600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr16:72147000-72148600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr16:72147000-72148600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:72147000-72148600	Weak transcription	Esophagus	oesophagus
32	chr16:72147000-72155600	Weak transcription	NHEK	skin
33	chr16:72147000-72158600	Weak transcription	Ovary	ovary
34	chr16:72147000-72158800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr16:72147000-72158800	Weak transcription	Brain Angular Gyrus	brain
36	chr16:72147000-72159000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr16:72147000-72164800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr16:72147000-72172200	Weak transcription	Dnd41	blood
39	chr16:72147200-72148800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr16:72147200-72149000	Weak transcription	Aorta	Aorta
41	chr16:72147200-72149000	Weak transcription	Right Ventricle	heart
42	chr16:72147200-72149000	Weak transcription	Hela-S3	cervix
43	chr16:72147200-72149400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:72147200-72149600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr16:72147200-72149600	Weak transcription	NH-A	brain
46	chr16:72147200-72158600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr16:72147200-72158600	Weak transcription	Brain Substantia Nigra	brain
48	chr16:72147200-72158600	Weak transcription	GM12878-XiMat	blood
49	chr16:72147200-72158800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr16:72147200-72159000	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links