Variant report

Variant	rs61988964
Chromosome Location	chr14:65754020-65754021
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65696039..65697546-chr14:65753255..65754853,2	MCF-7	breast:
2	chr14:65748171..65751140-chr14:65753934..65755557,2	MCF-7	breast:
3	chr14:65721766..65724259-chr14:65752829..65756528,3	MCF-7	breast:
4	chr14:65753408..65755484-chr14:65877640..65880155,2	MCF-7	breast:
5	chr14:65751346..65755635-chr14:65876089..65881787,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1272725	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2151756	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4902378	0.82[AMR][1000 genomes]
rs4902379	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4902380	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4902381	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4902384	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55759426	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55865853	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55888656	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55911819	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56030127	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56152095	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61987837	0.88[EUR][1000 genomes]
rs61987838	0.88[EUR][1000 genomes]
rs61987841	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61987844	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987845	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987846	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987847	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987851	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987852	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61987853	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61987854	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61987855	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61987856	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61987857	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61987858	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987859	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61988960	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61988961	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61988962	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61988963	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61988965	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988967	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61988970	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61989030	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61989032	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61989036	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7147344	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7152470	0.83[EUR][1000 genomes]
rs7161058	0.86[EUR][1000 genomes]
rs746835	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8004507	0.91[AMR][1000 genomes];0.80[EUR][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65747600-65758400	Weak transcription	Pancreas	Pancrea
2	chr14:65749800-65754400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr14:65750000-65754600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr14:65750000-65757800	Weak transcription	NHEK	skin
5	chr14:65750400-65754200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:65750400-65754400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:65750400-65755800	Weak transcription	NHDF-Ad	bronchial
8	chr14:65750400-65756800	Weak transcription	Osteobl	bone
9	chr14:65750600-65756400	Weak transcription	NH-A	brain
10	chr14:65752000-65757000	Weak transcription	NHLF	lung
11	chr14:65752000-65757800	Weak transcription	Stomach Mucosa	stomach
12	chr14:65753000-65754200	Enhancers	Brain Cingulate Gyrus	brain
13	chr14:65753000-65754600	Enhancers	Primary T cells from cord blood	blood
14	chr14:65753200-65754200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr14:65753200-65754200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr14:65753200-65754200	Enhancers	Fetal Thymus	thymus
17	chr14:65753200-65754400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr14:65753200-65754400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr14:65753200-65754600	Enhancers	Brain Substantia Nigra	brain
20	chr14:65753200-65754800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:65753200-65755000	Enhancers	Brain Hippocampus Middle	brain
22	chr14:65753200-65755600	Enhancers	Primary B cells from cord blood	blood
23	chr14:65753200-65756400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:65753200-65757200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:65753200-65760000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:65753200-65760200	Enhancers	Primary B cells from peripheral blood	blood
27	chr14:65753400-65754200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr14:65753400-65754600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:65753400-65754600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:65753400-65759800	Enhancers	Primary hematopoietic stem cells	blood
31	chr14:65753600-65756200	Flanking Active TSS	GM12878-XiMat	blood
32	chr14:65753600-65760000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:65753800-65754200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr14:65753800-65754200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:65753800-65754200	Active TSS	Colonic Mucosa	Colon
36	chr14:65753800-65754200	Enhancers	Gastric	stomach
37	chr14:65753800-65754400	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr14:65753800-65754400	Enhancers	Right Ventricle	heart
39	chr14:65753800-65754600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:65753800-65754600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:65753800-65755200	Enhancers	Dnd41	blood
42	chr14:65753800-65755400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr14:65754000-65754200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:65754000-65754200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr14:65754000-65754400	Flanking Active TSS	Thymus	Thymus
46	chr14:65754000-65754600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr14:65754000-65754600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:65754000-65754600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:65754000-65754600	Enhancers	Duodenum Mucosa	Duodenum
50	chr14:65754000-65754600	Enhancers	Spleen	Spleen

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