Variant report

Variant	rs72725114
Chromosome Location	chr14:68317854-68317855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68317031..68319960-chr14:68326091..68328593,2	K562	blood:
2	chr14:68315642..68318719-chr14:68330973..68334711,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10130919	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10131048	0.83[AMR][1000 genomes]
rs10132318	0.81[AMR][1000 genomes]
rs10133239	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10135927	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137614	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10137930	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10141638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146380	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10150007	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1040598	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10873208	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11158694	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11158697	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11158700	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11158701	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11620947	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11621019	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11622521	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11622535	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11623756	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11626332	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11626590	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11626769	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11626778	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11627100	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11627417	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11627565	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11844492	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11847628	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12431490	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12432558	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12433710	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12433779	0.86[ASN][1000 genomes]
rs12434751	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12891164	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12893157	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1543391	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17783094	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17783124	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17783160	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1810523	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs181561	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs181562	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs181563	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs181564	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs181565	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs181566	0.89[AMR][1000 genomes]
rs181567	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs181570	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs181572	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs181574	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs181576	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1956345	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1956346	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1956347	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1956348	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1964828	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2235963	0.83[AMR][1000 genomes]
rs2235966	0.80[AMR][1000 genomes]
rs2235967	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2295106	0.87[AMR][1000 genomes]
rs2295107	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2331403	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28373844	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28604984	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28623567	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28713367	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2874132	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34759521	0.93[ASN][1000 genomes]
rs35272075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35803514	0.86[ASN][1000 genomes]
rs4143685	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4284565	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4402486	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4902519	0.83[AMR][1000 genomes]
rs55854324	0.87[ASN][1000 genomes]
rs55867043	1.00[ASN][1000 genomes]
rs55999745	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7142433	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7143196	0.87[ASN][1000 genomes]
rs7143496	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7149482	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7150705	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7150903	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7151495	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7154635	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7159109	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7159489	0.81[AMR][1000 genomes]
rs7159622	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7159982	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7160196	0.83[AMR][1000 genomes]
rs72723196	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72723202	0.87[ASN][1000 genomes]
rs72725103	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725127	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs764088	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8003431	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8004611	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8006089	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8010086	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8011120	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8011690	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8012974	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8017013	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8018709	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs932555	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68287800-68318200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr14:68294600-68318200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:68300600-68336200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:68303200-68318200	Weak transcription	Ovary	ovary
5	chr14:68303200-68331800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr14:68311400-68325800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:68313200-68318000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:68313200-68324400	Weak transcription	Gastric	stomach
9	chr14:68313200-68326400	Weak transcription	Pancreas	Pancrea
10	chr14:68313200-68333400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:68313200-68333800	Weak transcription	Primary T cells from cord blood	blood
12	chr14:68313400-68322200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:68313800-68320600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:68313800-68324600	Weak transcription	Esophagus	oesophagus
15	chr14:68314000-68331400	Weak transcription	Dnd41	blood
16	chr14:68315800-68318800	Weak transcription	Primary B cells from cord blood	blood
17	chr14:68316400-68318000	Weak transcription	Fetal Stomach	stomach
18	chr14:68316600-68319000	Enhancers	Placenta	Placenta
19	chr14:68316600-68321600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:68316800-68319800	Enhancers	Primary hematopoietic stem cells	blood
21	chr14:68316800-68321400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr14:68317000-68320200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr14:68317200-68318000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr14:68317200-68318400	Weak transcription	Fetal Intestine Small	intestine
25	chr14:68317600-68319200	Enhancers	Fetal Thymus	thymus
26	chr14:68317600-68324800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:68317800-68318600	ZNF genes & repeats	Thymus	Thymus
28	chr14:68317800-68319200	Enhancers	Fetal Muscle Trunk	muscle
29	chr14:68317800-68319200	Enhancers	Spleen	Spleen
30	chr14:68317800-68320800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:68317800-68322800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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