Variant report

Variant	rs2888046
Chromosome Location	chr14:81407048-81407049
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	chr14:81406001..81408090-chr14:81684696..81687286,2	MCF-7	breast:
2	chr14:81405070..81407655-chr14:81893214..81894963,2	K562	blood:

Variant related genes	Relation type
ENSG00000140022	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10136404	0.87[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1016507	0.80[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs1016699	0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs1025253	0.83[CEU][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1035144	0.84[JPT][hapmap]
rs11623416	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11627019	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11627929	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12050342	0.92[YRI][hapmap]
rs12050416	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12431821	0.90[JPT][hapmap]
rs12432357	0.80[EUR][1000 genomes]
rs12433134	0.80[AFR][1000 genomes]
rs12434564	0.81[EUR][1000 genomes]
rs12878945	0.94[JPT][hapmap]
rs12888082	0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs12891585	0.93[JPT][hapmap]
rs12892825	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895801	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1458993	0.80[CEU][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs17111270	0.92[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.80[YRI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs172920	0.83[EUR][1000 genomes]
rs17542615	0.80[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs17542712	0.95[JPT][hapmap]
rs17614081	0.90[JPT][hapmap]
rs1797670	0.81[EUR][1000 genomes]
rs2044737	0.85[EUR][1000 genomes]
rs2044738	0.80[EUR][1000 genomes]
rs2114703	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2162548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215981	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs2217174	0.83[EUR][1000 genomes]
rs2217176	0.83[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228110	0.81[EUR][1000 genomes]
rs228111	0.82[EUR][1000 genomes]
rs228118	0.83[EUR][1000 genomes]
rs228120	0.89[JPT][hapmap];0.83[EUR][1000 genomes]
rs228121	0.83[EUR][1000 genomes]
rs228125	0.80[CEU][hapmap];0.87[JPT][hapmap];0.83[EUR][1000 genomes]
rs2300516	0.81[JPT][hapmap]
rs2371416	0.89[JPT][hapmap]
rs2371457	0.84[CEU][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2371462	0.83[EUR][1000 genomes]
rs2556601	0.83[EUR][1000 genomes]
rs2556605	0.82[EUR][1000 genomes]
rs35540104	0.81[EUR][1000 genomes]
rs3742721	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742722	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783949	0.81[JPT][hapmap]
rs3783950	0.81[JPT][hapmap]
rs4411444	0.85[JPT][hapmap]
rs4523859	0.90[JPT][hapmap]
rs4899781	0.82[AFR][1000 genomes]
rs4899782	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4899783	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4903948	0.83[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4903954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574611	0.81[AFR][1000 genomes]
rs6574613	0.92[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67065081	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7143407	0.81[EUR][1000 genomes]
rs7143744	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7148368	0.87[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7148618	0.80[CEU][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs7150858	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs7153979	0.80[CEU][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7154132	0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs7154373	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7157845	0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs7159065	0.89[YRI][hapmap]
rs722906	0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs728444	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7493314	0.88[YRI][hapmap]
rs759916	0.84[JPT][hapmap];0.83[EUR][1000 genomes]
rs759917	0.82[EUR][1000 genomes]
rs8003515	0.86[JPT][hapmap]
rs8003784	0.81[EUR][1000 genomes]
rs8005883	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8006507	0.81[EUR][1000 genomes]
rs8009120	0.83[EUR][1000 genomes]
rs8009260	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016507	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs8016601	0.81[CEU][hapmap]
rs8021137	0.80[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs8022411	0.84[CEU][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.82[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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:81375400-81407600	Weak transcription	Gastric	stomach
3	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:81387800-81407200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:81390000-81407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:81392200-81407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:81392600-81407200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:81392600-81407200	Weak transcription	Fetal Stomach	stomach
9	chr14:81392800-81407400	Weak transcription	Esophagus	oesophagus
10	chr14:81393000-81407600	Weak transcription	Lung	lung
11	chr14:81393600-81407200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:81394000-81407400	Weak transcription	Left Ventricle	heart
13	chr14:81395000-81407400	Weak transcription	Fetal Intestine Large	intestine
14	chr14:81396400-81407600	Weak transcription	Aorta	Aorta
15	chr14:81397400-81407200	Weak transcription	Ovary	ovary
16	chr14:81398000-81407200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:81398000-81407200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:81398000-81407200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:81398200-81407200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr14:81398200-81407400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:81398800-81407200	Weak transcription	Primary B cells from cord blood	blood
22	chr14:81400600-81407200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr14:81400800-81407200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:81401000-81407200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr14:81401000-81407400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:81401200-81407200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr14:81402400-81407200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:81402800-81407200	Weak transcription	Liver	Liver
29	chr14:81402800-81407200	Weak transcription	Thymus	Thymus
30	chr14:81404000-81407200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:81405400-81407200	Weak transcription	Osteobl	bone
32	chr14:81405600-81407600	Weak transcription	Spleen	Spleen
33	chr14:81405800-81407200	Weak transcription	Fetal Thymus	thymus
34	chr14:81406000-81407200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:81406000-81407200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr14:81406000-81407400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:81406200-81407400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr14:81406200-81407600	Flanking Active TSS	Dnd41	blood
39	chr14:81406400-81407200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:81406400-81407200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr14:81406400-81407200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:81406400-81407400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:81406400-81407400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:81406400-81408400	Active TSS	GM12878-XiMat	blood
45	chr14:81406600-81407200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:81406600-81407200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:81406600-81407200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:81406600-81407200	Enhancers	Brain Germinal Matrix	brain
49	chr14:81406600-81407200	Enhancers	Fetal Brain Female	brain
50	chr14:81406600-81407200	Enhancers	Fetal Heart	heart

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