Variant report

Variant	rs12888201
Chromosome Location	chr14:71370882-71370883
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71367722..71371068-chr14:71372863..71375706,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100731	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10137675	0.94[EUR][1000 genomes]
rs10148633	0.94[EUR][1000 genomes]
rs11847244	0.90[EUR][1000 genomes]
rs12432180	0.90[EUR][1000 genomes]
rs12433409	0.90[EUR][1000 genomes]
rs12435675	0.94[EUR][1000 genomes]
rs12878013	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12880918	0.90[EUR][1000 genomes]
rs12891140	0.90[EUR][1000 genomes]
rs12891245	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891445	0.90[EUR][1000 genomes]
rs12892262	0.94[EUR][1000 genomes]
rs12894731	0.94[EUR][1000 genomes]
rs12895177	0.94[EUR][1000 genomes]
rs17108694	0.92[EUR][1000 genomes]
rs17108711	0.94[EUR][1000 genomes]
rs17108730	0.94[EUR][1000 genomes]
rs17108753	0.87[EUR][1000 genomes]
rs17108869	0.90[EUR][1000 genomes]
rs17108873	0.90[EUR][1000 genomes]
rs17108897	0.90[EUR][1000 genomes]
rs2051865	0.90[EUR][1000 genomes]
rs2158998	0.90[EUR][1000 genomes]
rs2286312	0.90[EUR][1000 genomes]
rs2286314	0.90[EUR][1000 genomes]
rs2526891	0.90[EUR][1000 genomes]
rs34335220	0.81[EUR][1000 genomes]
rs34740221	0.90[EUR][1000 genomes]
rs34785361	0.96[EUR][1000 genomes]
rs34971726	0.90[EUR][1000 genomes]
rs34998980	0.90[EUR][1000 genomes]
rs35041597	0.90[EUR][1000 genomes]
rs35092982	0.90[EUR][1000 genomes]
rs35127721	0.94[EUR][1000 genomes]
rs35168506	0.94[EUR][1000 genomes]
rs35523654	0.90[EUR][1000 genomes]
rs35600810	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36089307	0.90[EUR][1000 genomes]
rs4488390	0.90[EUR][1000 genomes]
rs4902872	0.90[EUR][1000 genomes]
rs4902877	0.90[EUR][1000 genomes]
rs4902878	0.90[EUR][1000 genomes]
rs71425225	0.96[EUR][1000 genomes]
rs71425229	0.90[EUR][1000 genomes]
rs7158548	0.90[EUR][1000 genomes]
rs989500	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1053303	chr14:71316325-71402971	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr14:71350600-71373000	Weak transcription	Spleen	Spleen
2	chr14:71355000-71371600	Weak transcription	Placenta	Placenta
3	chr14:71361800-71373400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr14:71362200-71371600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:71362400-71371600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:71364000-71373800	Weak transcription	Small Intestine	intestine
7	chr14:71364200-71373000	Weak transcription	NHEK	skin
8	chr14:71364200-71373600	Weak transcription	Lung	lung
9	chr14:71365400-71371000	Weak transcription	HSMMtube	muscle
10	chr14:71365400-71371600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr14:71365400-71373400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:71365600-71371000	Weak transcription	Ovary	ovary
13	chr14:71365600-71371200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:71365600-71371600	Weak transcription	Right Atrium	heart
15	chr14:71366200-71371600	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:71368000-71372200	Weak transcription	Gastric	stomach
17	chr14:71368200-71373000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:71368400-71371000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:71368400-71371200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:71368600-71371000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:71368600-71371000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:71368600-71371000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:71368600-71371200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:71368600-71371200	Weak transcription	HSMM	muscle
25	chr14:71368600-71371800	Weak transcription	Aorta	Aorta
26	chr14:71368600-71373000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:71368600-71373200	Weak transcription	GM12878-XiMat	blood
28	chr14:71368600-71373200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:71368600-71373400	Weak transcription	NH-A	brain
30	chr14:71368600-71373600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:71368800-71371000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:71368800-71371000	Weak transcription	NHLF	lung
33	chr14:71368800-71371600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:71368800-71373000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr14:71368800-71373600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:71369000-71371000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr14:71369200-71371200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr14:71369200-71371600	Weak transcription	Osteobl	bone
39	chr14:71369200-71373200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:71370200-71372000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr14:71370400-71373000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr14:71370600-71371600	Weak transcription	Adipose Nuclei	Adipose
43	chr14:71370600-71371800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:71370600-71373000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr14:71370600-71373400	Enhancers	Fetal Muscle Leg	muscle
46	chr14:71370600-71373400	Enhancers	Fetal Stomach	stomach
47	chr14:71370800-71371000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr14:71370800-71371200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr14:71370800-71372000	Enhancers	NHDF-Ad	bronchial
50	chr14:71370800-71372200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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