Variant report

Variant	rs10145723
Chromosome Location	chr14:35460954-35460955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr14:35460774-35461035	GM12878	blood:	n/a	n/a
2	MAZ	chr14:35460875-35460998	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35455082..35458071-chr14:35459564..35462136,2	MCF-7	breast:
2	chr14:35022921..35025122-chr14:35460718..35462320,2	MCF-7	breast:
3	chr14:35460081..35462987-chr14:35513991..35516983,2	MCF-7	breast:
4	chr14:35449790..35454325-chr14:35456141..35461309,8	K562	blood:
5	chr14:35450635..35452622-chr14:35458483..35461260,2	MCF-7	breast:
6	chr14:35459374..35461110-chr8:86390877..86393712,2	MCF-7	breast:

No data

Variant related genes	Relation type
SRP54	TF binding region
ENSG00000151327	Chromatin interaction
ENSG00000100883	Chromatin interaction
ENSG00000258704	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10130069	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10130509	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10130773	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10134907	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10134914	0.90[ASN][1000 genomes]
rs10136059	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10140135	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10142667	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10142861	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10143485	0.81[ASN][1000 genomes]
rs10144430	0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10145433	0.83[ASN][1000 genomes]
rs10146407	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10146699	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10148691	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10151273	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10151720	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1028448	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11156871	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11540758	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12435454	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12436971	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12437439	0.82[ASN][1000 genomes]
rs12588810	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13379372	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1568200	0.88[ASN][1000 genomes]
rs17091786	0.86[ASN][1000 genomes]
rs17102962	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17103042	0.83[ASN][1000 genomes]
rs2038254	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254990	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2273154	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2273157	0.97[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2295103	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2295104	0.83[ASN][1000 genomes]
rs2383693	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28384418	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28395170	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28404080	0.90[ASN][1000 genomes]
rs28535942	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28569331	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28577270	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28589276	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28618323	0.83[ASN][1000 genomes]
rs28870452	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3759548	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3809448	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3885855	0.88[ASN][1000 genomes]
rs45531432	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4981258	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4982234	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4982235	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4982236	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58320987	0.83[ASN][1000 genomes]
rs60152856	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61100068	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61191004	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7141261	0.88[ASN][1000 genomes]
rs7147571	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8020370	0.83[ASN][1000 genomes]
rs8021414	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
2	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS 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	52 gene(s)	inside rSNPs	diseases
6	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
7	nsv901604	chr14:35381137-35485748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription 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	34 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv1035925	chr14:35404661-35483420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv901605	chr14:35409214-35512335	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv901606	chr14:35449467-35512335	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv901607	chr14:35449467-35540764	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	48 gene(s)	inside rSNPs	diseases
14	nsv901608	chr14:35449467-35571651	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
15	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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35452800-35478200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:35453200-35467200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:35453200-35474200	Weak transcription	Aorta	Aorta
4	chr14:35453400-35467400	Weak transcription	Placenta	Placenta
5	chr14:35453600-35467600	Weak transcription	Fetal Intestine Small	intestine
6	chr14:35453600-35468800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:35453600-35470600	Weak transcription	Fetal Stomach	stomach
8	chr14:35453600-35474200	Weak transcription	Right Ventricle	heart
9	chr14:35453600-35485600	Weak transcription	HSMMtube	muscle
10	chr14:35453800-35466600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:35453800-35467200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:35453800-35467200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:35453800-35467200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:35453800-35468600	Weak transcription	Colonic Mucosa	Colon
15	chr14:35453800-35472000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr14:35453800-35473600	Weak transcription	Fetal Lung	lung
17	chr14:35453800-35474000	Weak transcription	NHEK	skin
18	chr14:35453800-35476000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:35453800-35499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:35454000-35465600	Weak transcription	Primary B cells from cord blood	blood
21	chr14:35454000-35479200	Weak transcription	Gastric	stomach
22	chr14:35454400-35466000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:35454400-35468800	Weak transcription	Left Ventricle	heart
24	chr14:35454400-35471200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:35454400-35481600	Weak transcription	HMEC	breast
26	chr14:35454400-35485200	Weak transcription	Esophagus	oesophagus
27	chr14:35454400-35509800	Weak transcription	Psoas Muscle	Psoas
28	chr14:35454600-35468800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:35454600-35474000	Weak transcription	Brain Angular Gyrus	brain
30	chr14:35454800-35465600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr14:35454800-35465800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr14:35454800-35466200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:35454800-35466600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:35454800-35466600	Weak transcription	Osteobl	bone
35	chr14:35454800-35466800	Weak transcription	Adipose Nuclei	Adipose
36	chr14:35454800-35467000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr14:35454800-35468400	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:35454800-35468600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:35454800-35468800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:35454800-35469200	Weak transcription	Brain Substantia Nigra	brain
41	chr14:35454800-35471600	Weak transcription	Ovary	ovary
42	chr14:35454800-35471800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:35454800-35472000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:35454800-35474000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:35454800-35481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:35454800-35483600	Weak transcription	Small Intestine	intestine
47	chr14:35454800-35484800	Weak transcription	Fetal Brain Male	brain
48	chr14:35455000-35462200	Weak transcription	HUVEC	blood vessel
49	chr14:35455000-35465400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:35455000-35465800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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