Variant report

Variant	rs17253494
Chromosome Location	chr14:55073144-55073145
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	chr14:55071007..55075462-chr14:55079366..55082091,5	MCF-7	breast:
2	chr14:55071586..55074009-chr14:55220452..55221970,2	K562	blood:

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1187590	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1187594	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1187596	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1211769	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1539116	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17127681	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17253556	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17832209	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1957888	1.00[ASN][1000 genomes]
rs1998671	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2147537	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28455122	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4548794	1.00[ASN][1000 genomes]
rs4898840	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55742724	1.00[ASN][1000 genomes]
rs55816518	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56110021	1.00[ASN][1000 genomes]
rs56133056	1.00[ASN][1000 genomes]
rs56220434	1.00[ASN][1000 genomes]
rs56294338	1.00[ASN][1000 genomes]
rs59630936	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61975126	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61975137	1.00[ASN][1000 genomes]

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55057000-55091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:55064800-55078000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:55066000-55073400	Enhancers	Fetal Heart	heart
4	chr14:55067000-55078000	Weak transcription	Fetal Stomach	stomach
5	chr14:55067200-55078000	Weak transcription	Fetal Lung	lung
6	chr14:55067400-55073600	Weak transcription	HepG2	liver
7	chr14:55067600-55073400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:55067600-55080800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:55069600-55073600	Enhancers	Osteobl	bone
10	chr14:55069600-55074000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr14:55069600-55074400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:55070400-55116200	Weak transcription	HMEC	breast
13	chr14:55071000-55073200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:55071600-55073400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:55072000-55074200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:55072000-55074200	Enhancers	Rectal Smooth Muscle	rectum
17	chr14:55072200-55074000	Enhancers	NHEK	skin
18	chr14:55072200-55076000	Weak transcription	HUVEC	blood vessel
19	chr14:55072600-55073400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:55072600-55073400	Flanking Active TSS	NHDF-Ad	bronchial
21	chr14:55072600-55073600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr14:55072600-55073600	Enhancers	HSMM	muscle
23	chr14:55072600-55073600	Enhancers	HSMMtube	muscle
24	chr14:55072600-55073800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr14:55072600-55074000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:55072600-55074000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr14:55072600-55074000	Enhancers	NH-A	brain
28	chr14:55072800-55073200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:55072800-55073200	Enhancers	Gastric	stomach
30	chr14:55072800-55073200	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr14:55072800-55073200	Genic enhancers	NHLF	lung
32	chr14:55072800-55073400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr14:55072800-55073400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:55072800-55073400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:55072800-55073400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr14:55072800-55073400	Enhancers	Fetal Brain Male	brain
37	chr14:55072800-55073800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:55072800-55073800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:55072800-55073800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:55072800-55074000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:55072800-55074000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:55072800-55074000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr14:55072800-55074000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:55072800-55074000	Enhancers	Brain Angular Gyrus	brain
45	chr14:55072800-55074000	Enhancers	Brain Anterior Caudate	brain
46	chr14:55072800-55074000	Enhancers	Fetal Muscle Trunk	muscle
47	chr14:55072800-55074000	Enhancers	Fetal Muscle Leg	muscle
48	chr14:55072800-55074000	Enhancers	Psoas Muscle	Psoas
49	chr14:55072800-55074000	Enhancers	Right Atrium	heart
50	chr14:55072800-55074200	Enhancers	HUES48 Cell Line	embryonic stem cell

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