Variant report

Variant	rs3766699
Chromosome Location	chr1:186350311-186350312
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:43)

rs_ID	r²[population]
rs10494583	0.86[ASN][1000 genomes]
rs10494584	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1406294	0.85[ASN][1000 genomes]
rs16825150	0.86[ASN][1000 genomes]
rs16825183	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16825185	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16825201	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16825224	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16825243	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16825248	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16825279	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16825335	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17491733	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1919199	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1919200	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2272412	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2273777	0.85[ASN][1000 genomes]
rs2273778	0.86[ASN][1000 genomes]
rs2297226	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28715477	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34585917	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3736595	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3736597	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3753565	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3766702	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3766703	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3766704	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3766705	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3766707	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3820181	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3820182	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57040195	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6425024	0.85[ASN][1000 genomes]
rs6425027	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425028	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664763	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6667940	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6678193	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6679066	0.81[ASN][1000 genomes]
rs6689129	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7514615	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525634	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7556543	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv548399	chr1:186295930-186353461	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
4	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186345400-186358000	Weak transcription	Left Ventricle	heart
2	chr1:186345400-186358600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:186345400-186359000	Weak transcription	Lung	lung
4	chr1:186345400-186371600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:186345400-186371600	Weak transcription	Esophagus	oesophagus
6	chr1:186345400-186371600	Weak transcription	Gastric	stomach
7	chr1:186345400-186390600	Weak transcription	Small Intestine	intestine
8	chr1:186345400-186398200	Weak transcription	Spleen	Spleen
9	chr1:186345800-186361200	Weak transcription	Aorta	Aorta
10	chr1:186345800-186377400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:186346000-186353200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:186346000-186366800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:186346200-186350400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:186346200-186350600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:186346200-186350600	Weak transcription	Fetal Stomach	stomach
16	chr1:186346200-186350800	Weak transcription	HSMMtube	muscle
17	chr1:186346200-186351400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:186346200-186351800	Weak transcription	Fetal Lung	lung
19	chr1:186346200-186357400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:186346200-186357800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:186346200-186357800	Weak transcription	Brain Anterior Caudate	brain
22	chr1:186346200-186357800	Weak transcription	Fetal Kidney	kidney
23	chr1:186346200-186359000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:186346200-186359000	Weak transcription	Ovary	ovary
25	chr1:186346200-186359000	Weak transcription	Thymus	Thymus
26	chr1:186346200-186360600	Weak transcription	Brain Substantia Nigra	brain
27	chr1:186346200-186361200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:186346200-186361200	Weak transcription	Pancreas	Pancrea
29	chr1:186346200-186361400	Weak transcription	Right Ventricle	heart
30	chr1:186346200-186365200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:186346200-186365200	Weak transcription	Psoas Muscle	Psoas
32	chr1:186346200-186380400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:186346200-186388400	Weak transcription	Colonic Mucosa	Colon
34	chr1:186346400-186350400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:186346400-186350600	Weak transcription	NHDF-Ad	bronchial
36	chr1:186346400-186351200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:186346400-186351800	Weak transcription	Fetal Brain Male	brain
38	chr1:186346400-186351800	Weak transcription	A549	lung
39	chr1:186346400-186352000	Weak transcription	Brain Germinal Matrix	brain
40	chr1:186346400-186352200	Weak transcription	HMEC	breast
41	chr1:186346400-186354400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:186346400-186357800	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:186346400-186359400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:186346400-186359400	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:186346400-186361000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:186346400-186361200	Weak transcription	Brain Angular Gyrus	brain
47	chr1:186346400-186376000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr1:186346400-186388000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:186346400-186390000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:186346600-186350800	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links