Variant report

Variant	rs11621916
Chromosome Location	chr14:70255617-70255618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70248146..70250325-chr14:70255541..70258035,3	MCF-7	breast:
2	chr14:70253256..70256439-chr14:70262024..70266154,4	MCF-7	breast:
3	chr14:70255116..70258123-chr14:70258993..70261547,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100652	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10130926	0.92[CEU][hapmap];0.89[CHB][hapmap];0.95[EUR][1000 genomes]
rs10136397	0.95[EUR][1000 genomes]
rs10142027	0.81[ASN][1000 genomes]
rs10142031	0.81[ASN][1000 genomes]
rs10142686	0.82[ASN][1000 genomes]
rs10143223	0.81[CHB][hapmap]
rs10146537	0.92[CEU][hapmap];0.97[EUR][1000 genomes]
rs10148404	0.95[EUR][1000 genomes]
rs10151895	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs10459536	0.87[ASN][1000 genomes]
rs11620808	0.85[CEU][hapmap];0.95[EUR][1000 genomes]
rs11622580	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11622925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11623262	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11624523	0.89[CHB][hapmap];0.87[ASN][1000 genomes]
rs11624532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11625731	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11625932	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11626145	0.86[EUR][1000 genomes]
rs11627012	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11627089	0.95[EUR][1000 genomes]
rs11628423	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11628546	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11628665	0.83[CEU][hapmap];0.95[EUR][1000 genomes]
rs11629054	1.00[JPT][hapmap]
rs13313365	0.95[EUR][1000 genomes]
rs13313366	0.95[EUR][1000 genomes]
rs14411	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs1953399	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1953400	0.86[ASN][1000 genomes]
rs2148503	0.85[ASN][1000 genomes]
rs2148505	0.85[ASN][1000 genomes]
rs2332167	0.89[CHB][hapmap];0.87[ASN][1000 genomes]
rs28404963	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28437671	0.95[EUR][1000 genomes]
rs28437822	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28480224	0.91[EUR][1000 genomes]
rs2877595	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28785205	0.98[EUR][1000 genomes]
rs28847646	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3104	0.89[CHB][hapmap];0.86[ASN][1000 genomes]
rs3784152	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs3784153	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs3809399	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4646285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4646286	0.90[CHB][hapmap]
rs4646297	0.89[CHB][hapmap];0.85[ASN][1000 genomes]
rs4899311	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4899313	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902752	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4902753	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4902755	0.87[ASN][1000 genomes]
rs55724465	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55987626	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56074637	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56140822	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56177148	0.95[EUR][1000 genomes]
rs57492222	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58582364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59066042	0.95[EUR][1000 genomes]
rs59172911	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60442313	0.87[ASN][1000 genomes]
rs61356864	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573905	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6573906	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6573907	0.84[ASN][1000 genomes]
rs6573908	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs7142868	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs7153496	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs7153985	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7160953	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7161476	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72725718	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72725724	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72725740	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72725743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72725745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72725773	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72725776	0.89[EUR][1000 genomes]
rs72725780	0.89[EUR][1000 genomes]
rs8010836	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8011311	0.83[ASN][1000 genomes]
rs8013598	0.84[ASN][1000 genomes]
rs9944036	0.89[CHB][hapmap];0.85[ASN][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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70238200-70263600	Weak transcription	Stomach Mucosa	stomach
2	chr14:70241000-70256200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:70245400-70256000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr14:70245600-70257400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:70245800-70256200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:70246200-70258400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:70246200-70259800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:70246400-70261800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:70246400-70264000	Weak transcription	Fetal Intestine Small	intestine
10	chr14:70246600-70256800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:70246600-70256800	Weak transcription	HSMMtube	muscle
12	chr14:70247000-70264600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:70248200-70256200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:70248200-70263000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:70248200-70271600	Weak transcription	Psoas Muscle	Psoas
16	chr14:70248400-70256200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr14:70248400-70256200	Weak transcription	Right Atrium	heart
18	chr14:70248400-70264400	Weak transcription	Esophagus	oesophagus
19	chr14:70248600-70256200	Weak transcription	Fetal Intestine Large	intestine
20	chr14:70248600-70263600	Weak transcription	Right Ventricle	heart
21	chr14:70248800-70256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:70248800-70256400	Weak transcription	Brain Germinal Matrix	brain
23	chr14:70248800-70264000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr14:70249000-70264000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:70251800-70264200	Weak transcription	Colonic Mucosa	Colon
26	chr14:70253400-70255800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:70253400-70255800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:70253400-70255800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:70253400-70256000	Weak transcription	Adipose Nuclei	Adipose
30	chr14:70253400-70257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:70253400-70259800	Weak transcription	Pancreas	Pancrea
32	chr14:70253400-70263400	Weak transcription	Lung	lung
33	chr14:70253400-70263600	Weak transcription	Gastric	stomach
34	chr14:70253400-70263800	Weak transcription	Brain Anterior Caudate	brain
35	chr14:70253400-70264200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr14:70253600-70255800	Weak transcription	Primary B cells from cord blood	blood
37	chr14:70253600-70256000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:70253600-70257600	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:70253600-70263400	Weak transcription	Placenta	Placenta
40	chr14:70253600-70263400	Weak transcription	Left Ventricle	heart
41	chr14:70253600-70263800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:70253600-70263800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr14:70253800-70256600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr14:70253800-70256800	Weak transcription	GM12878-XiMat	blood
45	chr14:70253800-70257600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:70253800-70264000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr14:70254200-70255800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:70254200-70263600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr14:70254200-70265800	Weak transcription	Spleen	Spleen
50	chr14:70254600-70256200	Weak transcription	Colon Smooth Muscle	Colon

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