Variant report

Variant	rs17128666
Chromosome Location	chr14:56138249-56138250
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56135952..56138303-chr14:56139128..56140660,2	MCF-7	breast:
2	chr14:56133519..56136072-chr14:56136743..56138846,2	MCF-7	breast:
3	chr14:56135769..56139247-chr14:56140208..56143081,3	K562	blood:

Variant related genes	Relation type
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10129990	1.00[EUR][1000 genomes]
rs10132721	1.00[EUR][1000 genomes]
rs10151466	1.00[EUR][1000 genomes]
rs10151733	1.00[EUR][1000 genomes]
rs17128594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128634	1.00[EUR][1000 genomes]
rs17128635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128659	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128671	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128672	1.00[EUR][1000 genomes]
rs60318423	1.00[EUR][1000 genomes]
rs7142744	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285833	1.00[EUR][1000 genomes]
rs73287725	1.00[AMR][1000 genomes]
rs8008958	1.00[EUR][1000 genomes]
rs8011213	1.00[EUR][1000 genomes]
rs8023112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9743909	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1792376	chr14:56108007-56150151	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1283	chr14:56120059-56164729	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
2	chr14:56087600-56145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:56088400-56153200	Weak transcription	Gastric	stomach
4	chr14:56095000-56142200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:56097600-56145200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:56101800-56162800	Weak transcription	Brain Germinal Matrix	brain
8	chr14:56102400-56145200	Weak transcription	Lung	lung
9	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
10	chr14:56104800-56157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:56106000-56150200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:56109200-56141800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:56109200-56164000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:56109800-56139600	Weak transcription	Colonic Mucosa	Colon
15	chr14:56109800-56145400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:56113800-56155000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:56115000-56155000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr14:56118400-56138400	Weak transcription	HSMMtube	muscle
19	chr14:56119200-56139200	Weak transcription	K562	blood
20	chr14:56120000-56139200	Weak transcription	Brain Angular Gyrus	brain
21	chr14:56122000-56145400	Weak transcription	Pancreas	Pancrea
22	chr14:56122200-56138400	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:56122200-56138600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:56122400-56145000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:56122400-56145400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:56122400-56152600	Weak transcription	Esophagus	oesophagus
27	chr14:56122400-56164800	Weak transcription	Small Intestine	intestine
28	chr14:56124000-56138400	Weak transcription	Brain Substantia Nigra	brain
29	chr14:56124000-56142200	Weak transcription	Fetal Kidney	kidney
30	chr14:56125000-56144600	Weak transcription	Fetal Muscle Leg	muscle
31	chr14:56128200-56145200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:56128200-56149800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr14:56129200-56143800	Weak transcription	Fetal Intestine Small	intestine
34	chr14:56129200-56144600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:56129200-56145200	Weak transcription	Fetal Stomach	stomach
36	chr14:56129800-56138400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:56129800-56145000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:56129800-56145200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:56129800-56145200	Weak transcription	Spleen	Spleen
40	chr14:56129800-56152000	Weak transcription	Aorta	Aorta
41	chr14:56130400-56138400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr14:56130400-56145200	Weak transcription	Ovary	ovary
43	chr14:56131400-56145200	Weak transcription	Fetal Brain Male	brain
44	chr14:56131400-56145200	Weak transcription	Thymus	Thymus
45	chr14:56133000-56145200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:56133400-56144000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:56133400-56145200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:56133400-56153400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr14:56134000-56143600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:56134000-56155000	Strong transcription	HSMM	muscle

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