Variant report

Variant	rs3738244
Chromosome Location	chr1:193205272-193205273
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10399607	0.90[ASN][1000 genomes]
rs10399929	0.90[ASN][1000 genomes]
rs10494674	0.91[CHB][hapmap];0.96[JPT][hapmap];0.85[YRI][hapmap]
rs10732293	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10733078	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10737620	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10737621	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10737622	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10737623	0.96[ASN][1000 genomes]
rs10754044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs10754047	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10754048	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10754049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs10754052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[ASN][1000 genomes]
rs10754053	0.88[ASN][1000 genomes]
rs10754054	0.96[ASN][1000 genomes]
rs10754055	0.96[ASN][1000 genomes]
rs10801173	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10801174	0.92[CEU][hapmap]
rs10801177	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10801178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs10801179	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs10801183	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs10801184	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10801187	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10801188	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10801189	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10801190	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10801191	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10801192	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10921308	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10921312	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs10921318	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10921323	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10921325	0.90[JPT][hapmap];0.87[YRI][hapmap];0.89[ASN][1000 genomes]
rs10921326	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10921328	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10921330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10921334	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10921336	0.99[ASN][1000 genomes]
rs11577299	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12047390	0.82[CHB][hapmap]
rs12064521	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12078145	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12090626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs12126529	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12145057	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12410213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1325197	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.88[ASN][1000 genomes]
rs1361404	0.82[CHB][hapmap]
rs1361405	0.82[CHB][hapmap]
rs1408830	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1416977	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1536097	0.88[ASN][1000 genomes]
rs1536098	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1536099	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539724	0.82[CEU][hapmap];0.90[JPT][hapmap]
rs1578242	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1578243	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1632444	0.96[ASN][1000 genomes]
rs1749424	0.94[ASN][1000 genomes]
rs1890660	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2078083	0.97[ASN][1000 genomes]
rs2181408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2182106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[ASN][1000 genomes]
rs2186016	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2251699	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2254646	0.94[ASN][1000 genomes]
rs2275444	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2370029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs2370079	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2486842	0.94[ASN][1000 genomes]
rs3806351	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3945872	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4379660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs4450000	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4466634	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4657744	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4657747	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4657842	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4657843	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4657847	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4657848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[ASN][1000 genomes]
rs474328	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs475163	0.99[ASN][1000 genomes]
rs503265	0.94[ASN][1000 genomes]
rs524701	0.99[ASN][1000 genomes]
rs543788	0.96[ASN][1000 genomes]
rs569656	0.95[CHB][hapmap];0.83[JPT][hapmap];0.85[YRI][hapmap]
rs571029	0.96[ASN][1000 genomes]
rs6428152	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6428153	0.89[ASN][1000 genomes]
rs6428154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[ASN][1000 genomes]
rs6428155	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6428156	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6428157	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6428159	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[ASN][1000 genomes]
rs6428160	0.99[ASN][1000 genomes]
rs6661522	0.81[CHB][hapmap]
rs6663162	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6665069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6665666	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[ASN][1000 genomes]
rs6671237	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6671476	0.96[ASN][1000 genomes]
rs6673271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs6675827	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6675833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[ASN][1000 genomes]
rs6676322	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6676416	0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap]
rs6676878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[ASN][1000 genomes]
rs6680224	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6689006	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6692342	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6697079	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs693519	0.95[CHB][hapmap];0.83[JPT][hapmap];0.84[YRI][hapmap]
rs7514072	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7515024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518792	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7519242	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7542466	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs7545223	0.90[ASN][1000 genomes]
rs7546869	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7547615	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7554925	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs817136	0.99[ASN][1000 genomes]
rs817140	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[YRI][hapmap]
rs843844	0.95[CHB][hapmap];0.87[JPT][hapmap];0.83[YRI][hapmap]
rs912070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs912071	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs942680	0.99[ASN][1000 genomes]
rs9427838	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs9783104	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs9887974	0.82[EUR][1000 genomes]

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	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
3	chr1:193159000-193210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:193167800-193210400	Weak transcription	Ovary	ovary
5	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
6	chr1:193170400-193216000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:193176800-193209200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:193177000-193206600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
11	chr1:193181000-193207400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:193181800-193210400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
14	chr1:193183400-193211000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:193183400-193216000	Weak transcription	NHEK	skin
16	chr1:193184200-193209000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:193184400-193227600	Weak transcription	HMEC	breast
18	chr1:193185400-193211000	Weak transcription	Fetal Brain Female	brain
19	chr1:193185400-193218200	Weak transcription	HepG2	liver
20	chr1:193186200-193216600	Weak transcription	HUVEC	blood vessel
21	chr1:193186600-193210600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:193186600-193216200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:193186800-193210400	Weak transcription	Lung	lung
24	chr1:193187000-193205400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:193187000-193205400	Weak transcription	Fetal Stomach	stomach
26	chr1:193187000-193206600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:193187000-193207200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:193187000-193210400	Weak transcription	Gastric	stomach
29	chr1:193187000-193210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:193187000-193212200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:193187000-193213000	Weak transcription	Spleen	Spleen
32	chr1:193187000-193216400	Weak transcription	Esophagus	oesophagus
33	chr1:193187000-193216800	Weak transcription	Right Ventricle	heart
34	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:193191400-193217000	Weak transcription	Brain Anterior Caudate	brain
36	chr1:193191400-193221000	Weak transcription	Brain Substantia Nigra	brain
37	chr1:193191600-193216200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:193191600-193216600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:193191600-193216800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:193191800-193205400	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:193192200-193216000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:193192200-193216800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:193195600-193216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr1:193196600-193205600	Weak transcription	Primary T cells from cord blood	blood
45	chr1:193198600-193217000	Weak transcription	A549	lung
46	chr1:193198800-193216000	Weak transcription	GM12878-XiMat	blood
47	chr1:193198800-193216600	Weak transcription	Psoas Muscle	Psoas
48	chr1:193198800-193216600	Weak transcription	NHLF	lung
49	chr1:193201000-193206000	Strong transcription	HSMM	muscle
50	chr1:193201000-193229600	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links