Variant report

Variant	rs2295108
Chromosome Location	chr14:68250622-68250623
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	chr14:68250605..68253794-chr14:68255613..68258855,4	MCF-7	breast:
2	chr14:68243789..68246176-chr14:68249331..68252041,2	K562	blood:

Variant related genes	Relation type
ENSG00000072121	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10130919	0.88[CEU][hapmap]
rs10131048	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10132318	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10136790	0.80[CHB][hapmap]
rs10146380	0.88[CEU][hapmap]
rs10148527	0.80[CHB][hapmap]
rs1040598	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10483805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158693	0.89[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11158694	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11158695	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11620947	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11621019	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs11623756	0.89[CEU][hapmap]
rs11844529	0.80[CHB][hapmap]
rs11847628	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11852180	0.80[CHB][hapmap]
rs12100584	0.80[CHB][hapmap]
rs12433710	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs12586329	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12588401	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12886915	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12891047	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12891164	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs12892221	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12893157	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12896666	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1543391	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs17104764	0.80[CHB][hapmap]
rs17104776	0.80[CHB][hapmap]
rs17104800	0.80[CHB][hapmap]
rs17783124	0.88[CEU][hapmap]
rs17783160	0.95[CEU][hapmap]
rs1810523	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs181561	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs181562	0.82[EUR][1000 genomes]
rs181563	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs181564	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs181565	0.81[EUR][1000 genomes]
rs181566	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs181567	0.82[EUR][1000 genomes]
rs181570	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs181572	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs181574	0.82[EUR][1000 genomes]
rs181575	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs181576	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs1955470	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1956345	0.88[CEU][hapmap]
rs1956346	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1964828	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2235962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2235967	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs2295106	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2295107	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2331403	0.90[ASN][1000 genomes]
rs2874131	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2874132	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2877369	0.80[CHB][hapmap]
rs3742885	0.83[JPT][hapmap]
rs4143685	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4402486	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4436722	0.80[CHB][hapmap]
rs4569184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902517	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4902518	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4902519	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4902523	0.83[JPT][hapmap]
rs4902535	0.80[CHB][hapmap]
rs4902540	0.80[CHB][hapmap]
rs7142112	0.80[CHB][hapmap]
rs7142210	0.80[CHB][hapmap]
rs7142433	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs7143496	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7146354	0.80[CHB][hapmap]
rs7148327	0.83[JPT][hapmap]
rs7149796	0.83[JPT][hapmap]
rs7154635	0.88[CEU][hapmap]
rs7155840	0.80[CHB][hapmap]
rs7159622	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs7159982	0.84[EUR][1000 genomes]
rs7160196	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs767972	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8003431	0.88[CEU][hapmap]
rs8006089	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8007989	0.83[JPT][hapmap]
rs8010086	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8011120	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8011393	0.88[CEU][hapmap]
rs8011690	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8015595	0.83[JPT][hapmap]
rs8016525	0.80[CHB][hapmap]
rs8017013	0.88[CEU][hapmap]
rs8018709	0.89[CEU][hapmap]
rs9323501	0.80[CHB][hapmap]
rs932555	0.89[CEU][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2295108	CENTB1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68206200-68251000	Weak transcription	K562	blood
2	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:68213000-68280800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:68213400-68281200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:68213600-68279600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:68213800-68280600	Strong transcription	Liver	Liver
7	chr14:68214000-68258200	Strong transcription	Brain Germinal Matrix	brain
8	chr14:68214600-68281000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:68214800-68266800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:68214800-68276200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr14:68214800-68280200	Strong transcription	Fetal Thymus	thymus
12	chr14:68216600-68267200	Strong transcription	Fetal Stomach	stomach
13	chr14:68220000-68251200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr14:68220200-68273000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:68223800-68257600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr14:68224800-68281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:68225000-68281000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:68226000-68257600	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr14:68226200-68257600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:68226200-68257600	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr14:68226200-68281000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:68226400-68257600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:68226400-68257600	Strong transcription	Brain Anterior Caudate	brain
24	chr14:68226400-68257600	Strong transcription	Brain Cingulate Gyrus	brain
25	chr14:68226400-68257600	Strong transcription	Brain Hippocampus Middle	brain
26	chr14:68226400-68257600	Strong transcription	Fetal Lung	lung
27	chr14:68226400-68257600	Strong transcription	Ovary	ovary
28	chr14:68226400-68257800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:68226400-68257800	Strong transcription	Primary T cells from cord blood	blood
30	chr14:68226400-68258000	Strong transcription	Dnd41	blood
31	chr14:68226400-68258400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:68226400-68258600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr14:68226400-68262200	Strong transcription	Fetal Brain Female	brain
34	chr14:68226400-68272800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:68226400-68273200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:68226400-68276000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:68226400-68277800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:68226400-68278200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:68226400-68279800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:68226400-68280600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr14:68226400-68280800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:68226400-68280800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:68226400-68281000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:68226600-68251600	Strong transcription	Left Ventricle	heart
45	chr14:68226600-68251800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:68226600-68257600	Strong transcription	Thymus	Thymus
47	chr14:68226800-68257600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:68226800-68257600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr14:68226800-68257800	Strong transcription	Lung	lung
50	chr14:68226800-68258200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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