Variant report

Variant	rs10144825
Chromosome Location	chr14:70146937-70146938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70145783..70147481-chr14:70150839..70153157,2	K562	blood:
2	chr14:70145323..70149322-chr14:70149877..70152985,4	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17107137	0.82[EUR][1000 genomes]
rs17107174	0.91[EUR][1000 genomes]
rs2184598	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784148	0.91[EUR][1000 genomes]
rs3784150	0.91[EUR][1000 genomes]
rs3784151	0.91[EUR][1000 genomes]
rs3809394	0.91[EUR][1000 genomes]
rs3809396	0.91[EUR][1000 genomes]
rs56153412	0.82[AFR][1000 genomes]
rs60897990	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61094129	0.83[AFR][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	chr14:70133800-70148800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:70134000-70152400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:70137200-70148800	Weak transcription	K562	blood
6	chr14:70138200-70149000	Weak transcription	HMEC	breast
7	chr14:70138600-70147600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:70139800-70152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70140000-70149800	Weak transcription	Placenta	Placenta
10	chr14:70140600-70152200	Weak transcription	NHLF	lung
11	chr14:70141000-70149800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:70141000-70150800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:70141200-70148800	Weak transcription	Esophagus	oesophagus
14	chr14:70141400-70149800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:70141600-70148200	Weak transcription	Spleen	Spleen
16	chr14:70141600-70149000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:70141600-70149400	Weak transcription	Fetal Stomach	stomach
18	chr14:70141600-70149800	Weak transcription	Gastric	stomach
19	chr14:70141800-70152400	Weak transcription	Fetal Kidney	kidney
20	chr14:70142000-70149000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:70142200-70147000	Weak transcription	Aorta	Aorta
22	chr14:70142200-70147000	Weak transcription	Ovary	ovary
23	chr14:70142200-70148600	Weak transcription	Stomach Mucosa	stomach
24	chr14:70142200-70148800	Weak transcription	Brain Substantia Nigra	brain
25	chr14:70142200-70149200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:70142400-70148800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:70142400-70149000	Weak transcription	Adipose Nuclei	Adipose
28	chr14:70142600-70149000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:70142800-70148800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:70142800-70148800	Weak transcription	Brain Angular Gyrus	brain
31	chr14:70142800-70149800	Weak transcription	Thymus	Thymus
32	chr14:70143000-70147200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:70143000-70148800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:70143000-70149200	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:70143400-70147000	Weak transcription	Fetal Thymus	thymus
36	chr14:70143400-70147200	Weak transcription	Primary T cells from cord blood	blood
37	chr14:70143400-70147200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:70143400-70148200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr14:70143400-70149000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr14:70143800-70147000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr14:70143800-70147000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr14:70143800-70148200	Weak transcription	Left Ventricle	heart
43	chr14:70143800-70148600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr14:70143800-70148800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:70143800-70149000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:70143800-70149400	Weak transcription	Right Atrium	heart
47	chr14:70144000-70147000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr14:70144000-70147000	Strong transcription	GM12878-XiMat	blood
49	chr14:70144000-70148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:70144400-70151400	Weak transcription	Fetal Intestine Small	intestine

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