Variant report

Variant	rs7150982
Chromosome Location	chr14:64517631-64517632
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	chr14:64517201..64519341-chr14:64582124..64585042,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10135588	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10140978	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10146667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11622858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11844088	0.80[ASN][1000 genomes]
rs11844628	0.80[ASN][1000 genomes]
rs1255948	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1255950	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1255951	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1255952	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1255955	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1255960	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1255961	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1255964	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1255965	0.83[ASN][1000 genomes]
rs1255968	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1255973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12586503	0.80[ASN][1000 genomes]
rs1262241	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12894671	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1890907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1890908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2153477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2153478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2153481	0.85[ASN][1000 genomes]
rs2781377	0.83[AMR][1000 genomes]
rs2781378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3866737	0.80[ASN][1000 genomes]
rs4027405	0.80[ASN][1000 genomes]
rs4899131	0.80[ASN][1000 genomes]
rs6573542	0.80[ASN][1000 genomes]
rs6573544	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7146859	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147157	0.80[ASN][1000 genomes]
rs7153376	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7157993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64457000-64519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:64468800-64527200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:64469600-64518400	Weak transcription	HMEC	breast
5	chr14:64475200-64527200	Weak transcription	Fetal Heart	heart
6	chr14:64475600-64518400	Weak transcription	Gastric	stomach
7	chr14:64479200-64526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:64481400-64574000	Weak transcription	Stomach Mucosa	stomach
9	chr14:64489000-64518400	Weak transcription	HUVEC	blood vessel
10	chr14:64489200-64526600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:64489400-64568600	Weak transcription	Small Intestine	intestine
12	chr14:64491200-64518400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr14:64491200-64565200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:64492000-64518600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:64492200-64518400	Weak transcription	Fetal Brain Male	brain
16	chr14:64492200-64547400	Weak transcription	Colonic Mucosa	Colon
17	chr14:64492400-64518600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:64498600-64518400	Weak transcription	Primary B cells from cord blood	blood
19	chr14:64498800-64518400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr14:64498800-64518400	Weak transcription	Fetal Kidney	kidney
21	chr14:64499000-64518600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr14:64499000-64518600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:64499000-64538800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:64499200-64518200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr14:64499200-64518400	Weak transcription	Liver	Liver
26	chr14:64502400-64518200	Weak transcription	GM12878-XiMat	blood
27	chr14:64505400-64518400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:64506200-64518400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:64506200-64518400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:64506200-64518400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:64509800-64518400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr14:64510600-64518400	Weak transcription	Fetal Lung	lung
33	chr14:64510600-64518600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr14:64510600-64518600	Weak transcription	Brain Germinal Matrix	brain
35	chr14:64510600-64527200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:64510800-64518400	Weak transcription	Fetal Brain Female	brain
37	chr14:64510800-64526400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:64511000-64526200	Weak transcription	Pancreas	Pancrea
39	chr14:64511200-64527000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr14:64512000-64524200	Strong transcription	Dnd41	blood
41	chr14:64512400-64524400	Strong transcription	Placenta	Placenta
42	chr14:64512400-64527600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:64512600-64524200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:64512800-64521400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:64513800-64518200	Weak transcription	Fetal Thymus	thymus
46	chr14:64513800-64518400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr14:64513800-64518600	Weak transcription	Lung	lung
48	chr14:64513800-64520200	Weak transcription	NHEK	skin
49	chr14:64513800-64522000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr14:64513800-64526400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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