Variant report

Variant	rs28445375
Chromosome Location	chr14:78276931-78276932
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	chr14:78269599..78272044-chr14:78273167..78277350,3	K562	blood:
2	chr14:78266133..78267970-chr14:78276412..78278542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000063761	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11159292	0.91[EUR][1000 genomes]
rs11159293	1.00[EUR][1000 genomes]
rs12100847	1.00[EUR][1000 genomes]
rs17106436	1.00[EUR][1000 genomes]
rs17106446	1.00[EUR][1000 genomes]
rs28583578	1.00[EUR][1000 genomes]
rs28794568	0.91[EUR][1000 genomes]
rs35636358	1.00[EUR][1000 genomes]
rs55637975	1.00[EUR][1000 genomes]
rs55854915	1.00[EUR][1000 genomes]
rs55898805	1.00[EUR][1000 genomes]
rs55942240	1.00[EUR][1000 genomes]
rs55970713	1.00[EUR][1000 genomes]
rs56014836	1.00[EUR][1000 genomes]
rs56099290	1.00[EUR][1000 genomes]
rs56202430	1.00[EUR][1000 genomes]
rs56244834	0.88[EUR][1000 genomes]
rs56249119	1.00[EUR][1000 genomes]
rs56404400	1.00[EUR][1000 genomes]
rs58157110	0.83[EUR][1000 genomes]
rs7149496	0.91[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	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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78284800	Weak transcription	Brain Angular Gyrus	brain
2	chr14:78267200-78285200	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:78267200-78285200	Weak transcription	Fetal Stomach	stomach
4	chr14:78267200-78285400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:78267200-78285400	Weak transcription	Lung	lung
6	chr14:78267200-78288200	Weak transcription	Spleen	Spleen
7	chr14:78267200-78288800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:78267200-78304200	Weak transcription	HSMMtube	muscle
9	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
10	chr14:78267400-78285000	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:78267400-78285000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:78267400-78285200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr14:78267400-78285400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:78267600-78285000	Weak transcription	Primary T cells from cord blood	blood
15	chr14:78267600-78285400	Weak transcription	Brain Substantia Nigra	brain
16	chr14:78267800-78285400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:78270800-78288400	Weak transcription	Fetal Intestine Small	intestine
18	chr14:78270800-78288800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:78272400-78285200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:78273000-78285400	Weak transcription	Psoas Muscle	Psoas
21	chr14:78273400-78285200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:78273400-78285400	Weak transcription	Left Ventricle	heart
23	chr14:78274800-78278000	Weak transcription	GM12878-XiMat	blood
24	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:78276000-78277000	Weak transcription	K562	blood

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