Variant report

Variant	rs10129267
Chromosome Location	chr14:78271027-78271028
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	chr14:78269397..78271453-chr14:78289633..78292223,2	K562	blood:
2	chr14:78269599..78272044-chr14:78273167..78277350,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10131808	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132263	1.00[AMR][1000 genomes]
rs10132471	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10137746	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138037	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10140453	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143534	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145426	1.00[AMR][1000 genomes]
rs10145741	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147704	0.83[AMR][1000 genomes]
rs10149227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149283	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151202	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12323932	1.00[AMR][1000 genomes]
rs13379064	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17106199	0.83[AMR][1000 genomes]
rs28392707	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28478547	1.00[AMR][1000 genomes]
rs28558502	1.00[AMR][1000 genomes]
rs28611121	1.00[AMR][1000 genomes]
rs28678488	0.83[AMR][1000 genomes]
rs28684789	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78271800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:78267200-78272400	Weak transcription	Left Ventricle	heart
3	chr14:78267200-78284800	Weak transcription	Brain Angular Gyrus	brain
4	chr14:78267200-78285200	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:78267200-78285200	Weak transcription	Fetal Stomach	stomach
6	chr14:78267200-78285400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:78267200-78285400	Weak transcription	Lung	lung
8	chr14:78267200-78288200	Weak transcription	Spleen	Spleen
9	chr14:78267200-78288800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:78267200-78304200	Weak transcription	HSMMtube	muscle
11	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
12	chr14:78267400-78272800	Weak transcription	Stomach Mucosa	stomach
13	chr14:78267400-78285000	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:78267400-78285000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr14:78267400-78285200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:78267400-78285400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:78267600-78285000	Weak transcription	Primary T cells from cord blood	blood
18	chr14:78267600-78285400	Weak transcription	Brain Substantia Nigra	brain
19	chr14:78267800-78285400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:78268800-78272600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:78268800-78272800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:78269800-78274400	Weak transcription	K562	blood
23	chr14:78270000-78272400	Weak transcription	Psoas Muscle	Psoas
24	chr14:78270400-78271400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr14:78270800-78271400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr14:78270800-78288400	Weak transcription	Fetal Intestine Small	intestine
27	chr14:78270800-78288800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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