Variant report

Variant	rs61988970
Chromosome Location	chr14:65765570-65765571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10135541	1.00[ASN][1000 genomes]
rs10498517	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11844089	1.00[ASN][1000 genomes]
rs11844728	1.00[ASN][1000 genomes]
rs11846860	1.00[ASN][1000 genomes]
rs1270537	1.00[ASN][1000 genomes]
rs1272725	1.00[ASN][1000 genomes]
rs17102714	1.00[ASN][1000 genomes]
rs2151756	1.00[ASN][1000 genomes]
rs2153482	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4902378	1.00[ASN][1000 genomes]
rs4902379	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902380	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902381	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902382	0.82[AMR][1000 genomes]
rs4902384	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55714222	1.00[ASN][1000 genomes]
rs55759426	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55780087	1.00[ASN][1000 genomes]
rs55865853	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55888656	1.00[ASN][1000 genomes]
rs55911819	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55917158	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55948453	1.00[ASN][1000 genomes]
rs56030127	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56152095	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56158541	1.00[ASN][1000 genomes]
rs56348725	1.00[ASN][1000 genomes]
rs61987805	1.00[ASN][1000 genomes]
rs61987837	1.00[ASN][1000 genomes]
rs61987838	1.00[ASN][1000 genomes]
rs61987841	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987844	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987845	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987846	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987847	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987851	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987852	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61987853	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987854	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987855	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987856	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987857	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987858	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987859	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988960	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988961	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988962	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988963	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61988964	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61988965	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61988967	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989027	1.00[ASN][1000 genomes]
rs61989029	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61989030	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989032	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989036	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989057	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61989059	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61989961	1.00[ASN][1000 genomes]
rs61989962	1.00[ASN][1000 genomes]
rs61989963	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61989964	1.00[ASN][1000 genomes]
rs61989969	1.00[ASN][1000 genomes]
rs61989970	1.00[ASN][1000 genomes]
rs61989971	1.00[ASN][1000 genomes]
rs61989973	1.00[ASN][1000 genomes]
rs61989974	1.00[ASN][1000 genomes]
rs61989975	1.00[ASN][1000 genomes]
rs61989977	1.00[ASN][1000 genomes]
rs61989993	1.00[ASN][1000 genomes]
rs61989998	1.00[ASN][1000 genomes]
rs61990000	1.00[ASN][1000 genomes]
rs61990023	1.00[ASN][1000 genomes]
rs6573606	1.00[ASN][1000 genomes]
rs7147344	1.00[ASN][1000 genomes]
rs7150782	1.00[ASN][1000 genomes]
rs7152470	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7156029	1.00[ASN][1000 genomes]
rs7159582	1.00[ASN][1000 genomes]
rs7161058	1.00[ASN][1000 genomes]
rs746835	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747540	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8004070	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8004507	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005892	1.00[ASN][1000 genomes]
rs8013585	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	nsv515522	chr14:65746566-65771110	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65754600-65768600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:65758800-65770000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:65758800-65773400	Weak transcription	Spleen	Spleen
4	chr14:65759000-65766000	Weak transcription	Fetal Thymus	thymus
5	chr14:65759000-65766000	Weak transcription	Thymus	Thymus
6	chr14:65759800-65766000	Weak transcription	Primary T cells from cord blood	blood
7	chr14:65759800-65766200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:65760000-65781000	Weak transcription	Primary B cells from cord blood	blood
9	chr14:65763200-65774200	Enhancers	Primary B cells from peripheral blood	blood
10	chr14:65763600-65765600	Enhancers	Stomach Mucosa	stomach
11	chr14:65763800-65765600	Flanking Active TSS	GM12878-XiMat	blood
12	chr14:65763800-65766200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:65763800-65771200	Enhancers	Fetal Intestine Small	intestine
14	chr14:65764200-65765600	Enhancers	Fetal Intestine Large	intestine
15	chr14:65764400-65767200	Enhancers	Duodenum Mucosa	Duodenum
16	chr14:65765000-65766200	Weak transcription	Colonic Mucosa	Colon
17	chr14:65765000-65766600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:65765000-65766600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:65765000-65769800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:65765400-65766600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:65765400-65766600	Weak transcription	HepG2	liver
22	chr14:65765400-65768600	Weak transcription	Pancreas	Pancrea

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