Variant report

Variant	rs2415284
Chromosome Location	chr14:35744568-35744569
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35744140..35746636-chr14:35750906..35752624,2	K562	blood:
2	chr14:35742696..35750735-chr14:35870363..35874138,7	MCF-7	breast:
3	chr14:35737913..35740720-chr14:35744173..35747290,3	K562	blood:
4	chr14:35737913..35739770-chr14:35744109..35746101,2	K562	blood:
5	chr14:35734999..35737663-chr14:35744257..35745770,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10047949	1.00[ASN][1000 genomes]
rs10131625	1.00[ASN][1000 genomes]
rs10132920	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134308	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136978	1.00[ASN][1000 genomes]
rs10137019	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[MKK][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10142846	0.87[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144857	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10146133	0.85[ASN][1000 genomes]
rs10146691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10147645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.96[ASN][1000 genomes]
rs10149823	0.94[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1064248	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11156874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11844031	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11845183	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11845364	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848309	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11849461	0.96[ASN][1000 genomes]
rs11850487	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11851820	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11852178	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12100582	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100841	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs12100980	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436351	0.96[ASN][1000 genomes]
rs17091807	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17103013	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs17103033	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17103044	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17103047	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17103111	0.93[ASN][1000 genomes]
rs17103147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103166	1.00[CHB][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17386684	0.85[ASN][1000 genomes]
rs17456067	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1807162	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1884715	0.96[ASN][1000 genomes]
rs2005535	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[MEX][hapmap];0.82[MKK][hapmap]
rs2008130	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs2145622	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2277459	0.88[ASW][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.88[TSI][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277461	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415258	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2415278	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28470932	1.00[ASN][1000 genomes]
rs28504476	0.96[ASN][1000 genomes]
rs28505171	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28595436	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28665705	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28708376	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28736779	1.00[ASN][1000 genomes]
rs2899832	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34509212	0.85[ASN][1000 genomes]
rs4494460	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs55907319	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58064181	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60940685	0.96[ASN][1000 genomes]
rs62625039	0.85[ASN][1000 genomes]
rs6571694	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6571695	0.85[ASN][1000 genomes]
rs6571709	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142115	0.86[AMR][1000 genomes]
rs7148424	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149602	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153807	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154292	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs7154637	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7155335	0.93[ASN][1000 genomes]
rs7155697	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7218	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs72664840	0.85[ASN][1000 genomes]
rs72664843	0.85[ASN][1000 genomes]
rs72664854	0.85[ASN][1000 genomes]
rs72664855	0.85[ASN][1000 genomes]
rs73239026	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73239030	0.96[ASN][1000 genomes]
rs73239072	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239074	1.00[ASN][1000 genomes]
rs73240720	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73240721	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74043875	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs743226	1.00[ASN][1000 genomes]
rs743227	1.00[ASN][1000 genomes]
rs7493705	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004236	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8005261	0.96[ASN][1000 genomes]
rs8007822	1.00[ASN][1000 genomes]
rs8009666	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010905	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011195	0.85[ASN][1000 genomes]
rs8011549	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8014760	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs8016140	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019482	0.85[ASN][1000 genomes]
rs8019523	0.85[ASN][1000 genomes]
rs8019700	0.85[ASN][1000 genomes]
rs8019709	0.85[ASN][1000 genomes]
rs876996	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	65 gene(s)	inside rSNPs	diseases
4	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
8	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
9	esv2754534	chr14:35690978-35744839	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35684600-35760800	Weak transcription	HSMM	muscle
2	chr14:35705400-35749800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:35706800-35760800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:35709800-35753600	Weak transcription	Small Intestine	intestine
5	chr14:35716800-35760600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:35716800-35761000	Weak transcription	Spleen	Spleen
7	chr14:35717000-35760800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:35717600-35753800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:35720000-35744800	Weak transcription	Fetal Brain Male	brain
10	chr14:35722000-35754000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr14:35722000-35760800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:35724200-35756400	Weak transcription	Left Ventricle	heart
13	chr14:35727200-35754600	Weak transcription	NHDF-Ad	bronchial
14	chr14:35727200-35756400	Weak transcription	Stomach Mucosa	stomach
15	chr14:35727200-35761000	Weak transcription	NHLF	lung
16	chr14:35727400-35754000	Weak transcription	HUVEC	blood vessel
17	chr14:35728000-35750200	Weak transcription	Ovary	ovary
18	chr14:35728400-35748400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:35728400-35754600	Weak transcription	K562	blood
20	chr14:35728400-35755000	Weak transcription	Colonic Mucosa	Colon
21	chr14:35729800-35745400	Weak transcription	Brain Angular Gyrus	brain
22	chr14:35730000-35747200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr14:35730000-35751000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:35730200-35760600	Weak transcription	Fetal Brain Female	brain
25	chr14:35730400-35747000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:35730400-35753400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr14:35731800-35756000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:35733400-35747200	Weak transcription	HSMMtube	muscle
29	chr14:35734000-35745400	Weak transcription	Hela-S3	cervix
30	chr14:35734400-35760600	Weak transcription	Right Ventricle	heart
31	chr14:35734400-35760800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr14:35734600-35749400	Weak transcription	Fetal Kidney	kidney
33	chr14:35734600-35750400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr14:35734600-35752400	Weak transcription	NH-A	brain
35	chr14:35735600-35745800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:35735600-35747400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr14:35735800-35745800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:35735800-35746600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr14:35735800-35748000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:35736000-35746400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:35736000-35760800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:35736400-35745400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:35736600-35754000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:35737400-35761000	Weak transcription	Gastric	stomach
45	chr14:35737600-35751800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:35738400-35745400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr14:35738600-35750200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:35738800-35759400	Weak transcription	Placenta	Placenta
49	chr14:35739000-35746000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr14:35739000-35746600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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