Variant report

Variant	rs17105411
Chromosome Location	chr14:77622256-77622257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77618647..77620331-chr14:77622173..77624872,2	K562	blood:
2	chr14:77617758..77621204-chr14:77622193..77625212,3	MCF-7	breast:
3	chr14:77621398..77624327-chr14:77786933..77789294,4	MCF-7	breast:
4	chr14:77615331..77626101-chr14:77782557..77793016,18	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100577	Chromatin interaction
ENSG00000009830	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17105413	0.81[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv976845	chr14:77621865-77649191	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17105411	ALDH6A1	cis	parietal	SCAN
rs17105411	C14orf1	cis	cerebellum	SCAN
rs17105411	ZFYVE1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77613800-77624800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:77615400-77624200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr14:77618200-77624200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:77620200-77624000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:77620400-77622400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:77621200-77622600	Enhancers	Brain Germinal Matrix	brain
7	chr14:77621200-77624200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:77621200-77624200	Weak transcription	Fetal Brain Female	brain
9	chr14:77621400-77624200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:77621400-77624200	Weak transcription	Brain Substantia Nigra	brain
11	chr14:77621400-77624600	Weak transcription	Esophagus	oesophagus
12	chr14:77621600-77623400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:77621600-77624200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:77621600-77624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:77621600-77624200	Weak transcription	Brain Anterior Caudate	brain
16	chr14:77621600-77624200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:77621800-77624000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr14:77622000-77624000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:77622000-77624200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:77622000-77624200	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:77622000-77624200	Weak transcription	Fetal Brain Male	brain
22	chr14:77622000-77624800	Weak transcription	Left Ventricle	heart
23	chr14:77622000-77624800	Weak transcription	Right Atrium	heart
24	chr14:77622200-77622400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:77622200-77622400	Enhancers	Brain Angular Gyrus	brain
26	chr14:77622200-77622400	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr14:77622200-77624000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:77622200-77624200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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