Variant report

Variant	rs229678
Chromosome Location	chr14:65154145-65154146
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	chr14:65148833..65151255-chr14:65153026..65155458,2	K562	blood:
2	chr14:65154137..65157295-chr14:65167882..65171071,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10139256	1.00[EUR][1000 genomes]
rs10147757	1.00[EUR][1000 genomes]
rs229679	1.00[EUR][1000 genomes]
rs28708728	1.00[EUR][1000 genomes]
rs7160627	1.00[EUR][1000 genomes]
rs73271685	1.00[EUR][1000 genomes]
rs8008283	1.00[EUR][1000 genomes]
rs8017680	1.00[EUR][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65142600-65154400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr14:65147000-65155000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:65149000-65154200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:65149200-65155200	Weak transcription	Colonic Mucosa	Colon
5	chr14:65149400-65155000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:65149400-65155000	Weak transcription	Fetal Intestine Large	intestine
7	chr14:65149400-65159000	Weak transcription	Right Atrium	heart
8	chr14:65149400-65169400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:65149600-65154600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:65149600-65155000	Weak transcription	Stomach Mucosa	stomach
11	chr14:65149600-65159200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:65149800-65155000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:65150000-65155000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:65150200-65155200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:65150200-65159000	Weak transcription	Right Ventricle	heart
16	chr14:65150400-65155200	Weak transcription	Esophagus	oesophagus
17	chr14:65151200-65154800	Weak transcription	Fetal Intestine Small	intestine
18	chr14:65151200-65159600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:65151400-65155000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:65151400-65155000	Weak transcription	HMEC	breast
21	chr14:65151400-65155200	Weak transcription	Pancreas	Pancrea
22	chr14:65152400-65159200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:65152800-65159000	Weak transcription	Brain Anterior Caudate	brain
24	chr14:65153000-65155200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:65153000-65155600	Weak transcription	Fetal Thymus	thymus
26	chr14:65153000-65159000	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:65153000-65160200	Weak transcription	Placenta	Placenta
28	chr14:65153200-65154200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr14:65153200-65154800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:65153200-65155000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:65153200-65155000	Weak transcription	Spleen	Spleen
32	chr14:65153200-65155200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:65153200-65155600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:65153200-65159000	Weak transcription	Brain Angular Gyrus	brain
35	chr14:65153800-65156800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:65154000-65156800	Enhancers	Primary T helper cells fromperipheralblood	blood

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