Variant report

Variant	rs72664820
Chromosome Location	chr14:35583105-35583106
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35577086..35580056-chr14:35580213..35583818,4	MCF-7	breast:
2	chr14:35578569..35580087-chr14:35582011..35583731,2	K562	blood:
3	chr14:35582794..35584767-chr14:35585993..35588866,2	MCF-7	breast:
4	chr14:35571820..35573660-chr14:35580909..35583356,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092020	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10146133	0.84[ASN][1000 genomes]
rs11156874	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11848309	0.84[ASN][1000 genomes]
rs11850487	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12100841	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12100944	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17103013	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs17103033	0.85[ASN][1000 genomes]
rs17103044	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17103047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17386684	0.84[ASN][1000 genomes]
rs17456067	0.84[ASN][1000 genomes]
rs1807162	0.84[ASN][1000 genomes]
rs2008130	0.92[ASN][1000 genomes]
rs2143948	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2143949	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2415258	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34509212	0.84[ASN][1000 genomes]
rs4494460	0.84[ASN][1000 genomes]
rs55791227	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs55890055	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs56142562	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56363117	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57166048	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs57338667	0.80[ASN][1000 genomes]
rs57411359	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs61060564	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61492899	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62625039	0.84[ASN][1000 genomes]
rs6571694	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6571695	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7140462	0.92[ASN][1000 genomes]
rs7154292	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7155697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7156704	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7156770	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7160889	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs72664814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72664816	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs72664819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72664829	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs72664840	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs72664843	0.84[ASN][1000 genomes]
rs72664854	0.84[ASN][1000 genomes]
rs72664855	0.84[ASN][1000 genomes]
rs72680622	0.80[ASN][1000 genomes]
rs72680641	0.80[ASN][1000 genomes]
rs72680648	0.88[ASN][1000 genomes]
rs72680652	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs72680655	0.92[ASN][1000 genomes]
rs72680657	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs72680662	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs72680663	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8005079	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8007337	0.84[ASN][1000 genomes]
rs8007346	0.84[ASN][1000 genomes]
rs8007575	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8008066	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8011195	0.84[ASN][1000 genomes]
rs8011242	0.92[ASN][1000 genomes]
rs8011549	0.92[ASN][1000 genomes]
rs8012905	0.88[ASN][1000 genomes]
rs8014760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8016541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8017547	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8018116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8019182	0.92[ASN][1000 genomes]
rs8019482	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8019523	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8019700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8019709	0.84[ASN][1000 genomes]
rs8019741	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9888560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9888561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9888597	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 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	nsv901609	chr14:35449467-35587767	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv901613	chr14:35470049-35587767	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking 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	30 gene(s)	inside rSNPs	diseases
6	nsv564264	chr14:35482797-35732369	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv901615	chr14:35485748-35630175	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	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
9	nsv1052800	chr14:35509858-35607117	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
10	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
11	nsv564265	chr14:35512335-35624831	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats 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	38 gene(s)	inside rSNPs	diseases
12	nsv1046992	chr14:35527239-35724227	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
13	nsv1051274	chr14:35529529-35724227	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv1048823	chr14:35537281-35724892	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
15	nsv542032	chr14:35537281-35724892	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv1040540	chr14:35537481-35724753	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv542033	chr14:35537481-35724753	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
18	nsv1042625	chr14:35546094-35680358	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
19	nsv1050123	chr14:35546114-35724892	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
20	nsv542034	chr14:35546114-35724892	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking 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	27 gene(s)	inside rSNPs	diseases
21	nsv1050700	chr14:35548276-35639084	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
22	nsv1043692	chr14:35548276-35720016	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
23	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
24	nsv542035	chr14:35563220-35607117	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
25	nsv1047992	chr14:35563220-35639084	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
26	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
27	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
28	nsv1053978	chr14:35571762-35639084	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
29	nsv534182	chr14:35579022-35620232	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35529400-35590200	Weak transcription	Esophagus	oesophagus
2	chr14:35530600-35590000	Weak transcription	Fetal Heart	heart
3	chr14:35542000-35589600	Weak transcription	Fetal Brain Male	brain
4	chr14:35545600-35590000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:35546000-35585800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr14:35546000-35587200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:35546200-35585000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:35550200-35586000	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr14:35552000-35586600	Strong transcription	Fetal Thymus	thymus
10	chr14:35553400-35589800	Weak transcription	Pancreas	Pancrea
11	chr14:35564200-35589400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:35564800-35589800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:35569400-35585800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:35571600-35585200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:35571600-35585200	Strong transcription	Liver	Liver
16	chr14:35571800-35583600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr14:35573400-35583400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:35573600-35584800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:35573600-35584800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr14:35573600-35586400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:35574800-35584800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:35575200-35586200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr14:35575200-35587000	Strong transcription	Fetal Intestine Large	intestine
24	chr14:35575400-35583400	Strong transcription	Stomach Smooth Muscle	stomach
25	chr14:35575600-35585200	Strong transcription	Adipose Nuclei	Adipose
26	chr14:35575800-35583400	Strong transcription	Osteobl	bone
27	chr14:35576200-35584800	Strong transcription	Fetal Brain Female	brain
28	chr14:35576600-35584800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:35577600-35584800	Strong transcription	Left Ventricle	heart
30	chr14:35577600-35586600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:35577600-35587200	Strong transcription	Thymus	Thymus
32	chr14:35577600-35589800	Strong transcription	Fetal Stomach	stomach
33	chr14:35578000-35583400	Strong transcription	Right Ventricle	heart
34	chr14:35578200-35583200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:35578400-35584800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:35578600-35584800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:35578600-35584800	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:35578600-35586000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr14:35578800-35583200	Strong transcription	Primary T cells from cord blood	blood
40	chr14:35578800-35583200	Strong transcription	Brain Substantia Nigra	brain
41	chr14:35578800-35583200	Strong transcription	HSMMtube	muscle
42	chr14:35578800-35583400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:35578800-35583400	Strong transcription	Brain Anterior Caudate	brain
44	chr14:35578800-35583400	Strong transcription	HUVEC	blood vessel
45	chr14:35578800-35583600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:35578800-35584600	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr14:35579000-35583400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:35579000-35583600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:35579000-35583800	Strong transcription	HSMM	muscle
50	chr14:35579000-35585200	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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