Variant report

Variant	rs7157093
Chromosome Location	chr14:70143990-70143991
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	chr14:70136281..70137907-chr14:70143055..70145458,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10149246	0.81[ASN][1000 genomes]
rs1275742	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1275745	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275817	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1275823	0.83[ASN][1000 genomes]
rs1290041	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1295826	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1295827	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17107161	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1743379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1999722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2210803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2766462	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2766466	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34686932	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55780993	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60716885	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61980729	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61980730	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143960	0.93[ASN][1000 genomes]
rs945308	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs945309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs945310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs945312	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	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
4	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70130000-70148800	Weak transcription	NHEK	skin
2	chr14:70130200-70149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:70133800-70144800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:70133800-70148800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:70134000-70152400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:70136000-70144000	Enhancers	Psoas Muscle	Psoas
7	chr14:70137200-70148800	Weak transcription	K562	blood
8	chr14:70138200-70149000	Weak transcription	HMEC	breast
9	chr14:70138600-70147600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:70139800-70152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:70140000-70149800	Weak transcription	Placenta	Placenta
12	chr14:70140600-70152200	Weak transcription	NHLF	lung
13	chr14:70140800-70144000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr14:70141000-70144000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:70141000-70149800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr14:70141000-70150800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:70141200-70146800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:70141200-70146800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr14:70141200-70146800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:70141200-70148800	Weak transcription	Esophagus	oesophagus
21	chr14:70141400-70149800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:70141600-70148200	Weak transcription	Spleen	Spleen
23	chr14:70141600-70149000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr14:70141600-70149400	Weak transcription	Fetal Stomach	stomach
25	chr14:70141600-70149800	Weak transcription	Gastric	stomach
26	chr14:70141800-70145200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr14:70141800-70152400	Weak transcription	Fetal Kidney	kidney
28	chr14:70142000-70146800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:70142000-70146800	Weak transcription	Osteobl	bone
30	chr14:70142000-70149000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:70142200-70146800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:70142200-70147000	Weak transcription	Aorta	Aorta
33	chr14:70142200-70147000	Weak transcription	Ovary	ovary
34	chr14:70142200-70148600	Weak transcription	Stomach Mucosa	stomach
35	chr14:70142200-70148800	Weak transcription	Brain Substantia Nigra	brain
36	chr14:70142200-70149200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:70142400-70144600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:70142400-70146800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:70142400-70146800	Weak transcription	Brain Anterior Caudate	brain
40	chr14:70142400-70148800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:70142400-70149000	Weak transcription	Adipose Nuclei	Adipose
42	chr14:70142600-70144000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:70142600-70146800	Weak transcription	Fetal Muscle Leg	muscle
44	chr14:70142600-70146800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:70142600-70149000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr14:70142800-70146800	Weak transcription	Lung	lung
47	chr14:70142800-70146800	Weak transcription	Right Ventricle	heart
48	chr14:70142800-70148800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:70142800-70148800	Weak transcription	Brain Angular Gyrus	brain
50	chr14:70142800-70149800	Weak transcription	Thymus	Thymus

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