Variant report

Variant	rs73284130
Chromosome Location	chr14:65941624-65941625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65935399..65938391-chr14:65940482..65942968,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207781	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10129187	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10129732	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10130560	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10133167	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10133902	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133903	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135594	1.00[EUR][1000 genomes]
rs10135934	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10136412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10136763	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141293	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10143822	1.00[EUR][1000 genomes]
rs10145561	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10145993	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10145996	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10146179	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10162379	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10162474	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10162506	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10220303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10220304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10483775	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10483779	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483784	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12587616	0.93[ASN][1000 genomes]
rs12588029	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379147	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13379229	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17102686	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102757	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17102836	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102844	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1813030	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1950559	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1953419	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1958562	0.93[EUR][1000 genomes]
rs1959146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1959147	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1959148	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2002691	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2092915	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2411814	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411818	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411819	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28373922	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28390075	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28427101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28430347	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28452027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28694288	1.00[EUR][1000 genomes]
rs28695252	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28830595	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28871950	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898817	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898819	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783707	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3783712	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4516142	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs45549535	0.93[EUR][1000 genomes]
rs57638372	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58170348	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59970730	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7140251	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7141326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7145319	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7145834	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7148401	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7151690	0.85[AMR][1000 genomes]
rs7160505	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73284149	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73284201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8003664	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014146	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8015947	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9323462	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs945319	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9972109	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription 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	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65911200-65942400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:65913800-65942400	Weak transcription	Left Ventricle	heart
3	chr14:65920800-65942400	Weak transcription	Stomach Mucosa	stomach
4	chr14:65923400-65945000	Weak transcription	NHDF-Ad	bronchial
5	chr14:65925800-65943200	Weak transcription	Thymus	Thymus
6	chr14:65928600-65949400	Weak transcription	Psoas Muscle	Psoas
7	chr14:65929800-65943600	Weak transcription	HSMMtube	muscle
8	chr14:65929800-65944800	Weak transcription	NH-A	brain
9	chr14:65929800-65945400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:65930600-65942800	Weak transcription	Primary T cells from cord blood	blood
11	chr14:65931400-65966200	Weak transcription	Aorta	Aorta
12	chr14:65934000-65944400	Weak transcription	HMEC	breast
13	chr14:65935800-65942600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:65936600-65957400	Weak transcription	Primary B cells from cord blood	blood
15	chr14:65937200-65949600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:65937400-65942200	Weak transcription	Fetal Intestine Small	intestine
17	chr14:65937400-65944800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:65937400-65961600	Weak transcription	Fetal Intestine Large	intestine
19	chr14:65937600-65942400	Weak transcription	Gastric	stomach
20	chr14:65937600-65943800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:65937600-65944200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr14:65937600-65949600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:65937800-65942800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr14:65937800-65943800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr14:65937800-65944400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:65937800-65946000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:65938000-65942600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:65938000-65952000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:65938200-65944800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:65938400-65942000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:65938400-65942400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:65938400-65945000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:65938400-65963400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr14:65938600-65949600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:65938800-65952000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr14:65939000-65942400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr14:65939000-65942400	Weak transcription	Brain Angular Gyrus	brain
38	chr14:65939000-65942600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr14:65939000-65942600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:65939000-65942800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:65939000-65943000	Weak transcription	K562	blood
42	chr14:65939000-65946200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:65939000-65949000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:65939000-65949200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:65939000-65969400	Weak transcription	Dnd41	blood
46	chr14:65939200-65942400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:65939200-65942400	Weak transcription	Small Intestine	intestine
48	chr14:65939200-65942400	Weak transcription	GM12878-XiMat	blood
49	chr14:65939200-65942600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:65939200-65942800	Weak transcription	Brain Anterior Caudate	brain

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