Variant report

Variant	rs2108057
Chromosome Location	chr14:72022750-72022751
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	chr14:71787679..71789228-chr14:72021857..72023772,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259146	Chromatin interaction
ENSG00000197555	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10133626	0.82[JPT][hapmap]
rs10135680	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10138557	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10139519	0.88[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs1029570	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10483836	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11848785	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1204996	0.82[JPT][hapmap]
rs12127	0.86[EUR][1000 genomes]
rs12433040	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12878989	0.96[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12880188	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12880291	0.86[EUR][1000 genomes]
rs12885344	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12887261	0.86[EUR][1000 genomes]
rs12889866	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs12892512	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12896900	0.88[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs14030	0.86[EUR][1000 genomes]
rs17178206	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs17178387	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17767553	0.91[CEU][hapmap]
rs17767680	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17767686	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1859643	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1981588	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2190240	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2214836	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2332638	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2332640	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2332641	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2877729	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs28859432	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34169215	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34281934	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34388001	0.86[EUR][1000 genomes]
rs34480562	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34991781	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35231795	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35415083	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35589413	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35620527	0.86[EUR][1000 genomes]
rs35625243	0.84[EUR][1000 genomes]
rs35760654	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35831373	0.85[EUR][1000 genomes]
rs35866366	0.83[EUR][1000 genomes]
rs35971049	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36052007	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36072220	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3784062	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3784064	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3784066	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3825719	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4899398	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4902938	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4902941	0.87[EUR][1000 genomes]
rs55883127	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56180634	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61989379	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61989382	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61989383	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61989386	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61991213	0.80[EUR][1000 genomes]
rs61991243	0.83[EUR][1000 genomes]
rs61991246	0.82[EUR][1000 genomes]
rs61991249	0.83[EUR][1000 genomes]
rs6574015	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6574016	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66645707	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7140501	0.96[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7142343	0.91[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7144299	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7144829	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7152674	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7152842	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7154841	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7156313	0.88[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7157241	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs725673	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs757850	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8003478	0.82[EUR][1000 genomes]
rs8006300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8008605	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8010616	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8013161	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8014349	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8015644	0.82[EUR][1000 genomes]
rs8017775	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8019721	0.83[EUR][1000 genomes]
rs9323561	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9672060	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72015600-72023000	Weak transcription	Pancreas	Pancrea
2	chr14:72017800-72022800	Weak transcription	Brain Substantia Nigra	brain
3	chr14:72018000-72030000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:72018400-72022800	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:72018800-72022800	Weak transcription	Fetal Heart	heart
6	chr14:72019000-72022800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:72019000-72023200	Weak transcription	HSMM	muscle
8	chr14:72019400-72023800	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:72019600-72024400	Enhancers	Fetal Intestine Large	intestine
10	chr14:72019800-72023000	Weak transcription	Brain Angular Gyrus	brain
11	chr14:72020000-72024000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:72020800-72023400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr14:72021000-72024400	Enhancers	Fetal Intestine Small	intestine
14	chr14:72021200-72023400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr14:72021200-72023400	Flanking Active TSS	Dnd41	blood
16	chr14:72021200-72023800	Enhancers	Hela-S3	cervix
17	chr14:72021600-72022800	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr14:72021800-72022800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:72021800-72023200	Enhancers	NHDF-Ad	bronchial
20	chr14:72021800-72023600	Enhancers	HepG2	liver
21	chr14:72021800-72023800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr14:72021800-72023800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:72021800-72023800	Enhancers	Fetal Thymus	thymus
24	chr14:72021800-72023800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr14:72021800-72023800	Enhancers	Small Intestine	intestine
26	chr14:72021800-72023800	Enhancers	K562	blood
27	chr14:72022000-72022800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr14:72022000-72023000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:72022000-72023600	Enhancers	Colonic Mucosa	Colon
30	chr14:72022000-72024400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr14:72022200-72022800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr14:72022200-72023000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr14:72022200-72024400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:72022200-72024400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr14:72022400-72022800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr14:72022400-72022800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:72022400-72022800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr14:72022400-72022800	Enhancers	HMEC	breast
39	chr14:72022400-72023000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:72022400-72023000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:72022400-72023200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:72022400-72023200	Enhancers	Lung	lung
43	chr14:72022400-72023200	Enhancers	NHEK	skin
44	chr14:72022400-72023400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr14:72022400-72023600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:72022400-72023800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr14:72022400-72024600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr14:72022400-72024800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:72022600-72022800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr14:72022600-72022800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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