Variant report

Variant	rs17101973
Chromosome Location	chr14:65150011-65150012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65148900..65150464-chr14:65186037..65188877,2	MCF-7	breast:
2	chr14:65148833..65151255-chr14:65153026..65155458,2	K562	blood:
3	chr14:65143231..65150356-chr14:65170206..65174576,10	MCF-7	breast:
4	chr14:65145652..65150075-chr14:65165666..65170172,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10130553	1.00[AMR][1000 genomes]
rs10133196	1.00[AMR][1000 genomes]
rs10135368	1.00[AMR][1000 genomes]
rs12101185	1.00[AMR][1000 genomes]
rs41381946	1.00[AMR][1000 genomes]
rs41456047	1.00[AMR][1000 genomes]
rs55845128	1.00[AMR][1000 genomes]
rs58703532	1.00[AMR][1000 genomes]
rs60242081	1.00[AMR][1000 genomes]
rs73271700	1.00[AMR][1000 genomes]
rs74056006	1.00[AMR][1000 genomes]
rs74056027	1.00[AMR][1000 genomes]
rs74056031	1.00[AMR][1000 genomes]
rs74056080	1.00[AMR][1000 genomes]
rs74056321	1.00[AMR][1000 genomes]
rs74056335	1.00[AMR][1000 genomes]
rs74056355	1.00[AMR][1000 genomes]
rs74056368	1.00[AMR][1000 genomes]
rs74056389	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056392	0.89[AFR][1000 genomes]
rs74056393	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056398	1.00[AMR][1000 genomes]
rs74056399	1.00[AMR][1000 genomes]
rs74056402	1.00[AMR][1000 genomes]
rs74056451	1.00[AMR][1000 genomes]
rs74056453	1.00[AMR][1000 genomes]
rs74056462	1.00[AMR][1000 genomes]
rs74058205	1.00[AMR][1000 genomes]
rs74058206	1.00[AMR][1000 genomes]
rs74058207	1.00[AMR][1000 genomes]
rs74058208	1.00[AMR][1000 genomes]
rs74058211	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65142600-65154400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr14:65145600-65151400	Enhancers	HMEC	breast
3	chr14:65146200-65150200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:65146200-65153200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:65146400-65150400	Enhancers	Esophagus	oesophagus
6	chr14:65146400-65151000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:65146600-65150200	Enhancers	Rectal Smooth Muscle	rectum
8	chr14:65146600-65151400	Enhancers	Colon Smooth Muscle	Colon
9	chr14:65146600-65151600	Enhancers	Brain Angular Gyrus	brain
10	chr14:65146600-65153200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:65146800-65153000	Enhancers	Fetal Muscle Leg	muscle
12	chr14:65146800-65153000	Enhancers	Placenta	Placenta
13	chr14:65147000-65153000	Enhancers	Fetal Muscle Trunk	muscle
14	chr14:65147000-65155000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:65147200-65150200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:65147200-65150800	Weak transcription	HSMM	muscle
17	chr14:65147200-65151000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:65147600-65151400	Enhancers	Ovary	ovary
19	chr14:65148200-65151400	Enhancers	Pancreas	Pancrea
20	chr14:65148400-65151200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:65148800-65150200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:65148800-65150400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:65149000-65150200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:65149000-65154200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr14:65149200-65150200	Enhancers	Fetal Kidney	kidney
26	chr14:65149200-65150200	Enhancers	NHEK	skin
27	chr14:65149200-65150800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:65149200-65150800	Weak transcription	Fetal Intestine Small	intestine
29	chr14:65149200-65152200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:65149200-65152400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:65149200-65152400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:65149200-65152600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:65149200-65155200	Weak transcription	Colonic Mucosa	Colon
34	chr14:65149400-65150600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:65149400-65151000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:65149400-65151200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:65149400-65151200	Enhancers	Stomach Smooth Muscle	stomach
38	chr14:65149400-65151400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:65149400-65151600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:65149400-65151800	Enhancers	Brain Anterior Caudate	brain
41	chr14:65149400-65152400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:65149400-65152400	Weak transcription	Lung	lung
43	chr14:65149400-65153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:65149400-65153000	Weak transcription	Fetal Lung	lung
45	chr14:65149400-65155000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr14:65149400-65155000	Weak transcription	Fetal Intestine Large	intestine
47	chr14:65149400-65159000	Weak transcription	Right Atrium	heart
48	chr14:65149400-65169400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:65149600-65150600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:65149600-65150600	Weak transcription	Fetal Stomach	stomach

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