Variant report

Variant	rs17423264
Chromosome Location	chr7:108090255-108090256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:108087694..108090999-chr7:108091222..108094694,3	K562	blood:
2	chr7:108084971..108087877-chr7:108088105..108090258,2	K562	blood:
3	chr7:108089080..108090844-chr7:108114077..108117502,3	K562	blood:
4	chr7:108090194..108091696-chr7:108099610..108101665,2	K562	blood:
5	chr7:108087694..108090660-chr7:108091222..108093377,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 3 )

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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17423264	THAP5	Cis_1M	lymphoblastoid	RTeQTL
rs17423264	LOC286002	cis	lymphoblastoid	seeQTL
rs17423264	TIMM44	trans	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108076200-108094800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:108088200-108091800	Enhancers	A549	lung
3	chr7:108088400-108090400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:108088600-108090400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:108088800-108090400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:108088800-108090400	Enhancers	Fetal Brain Male	brain
7	chr7:108089200-108090800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:108089400-108090400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:108089400-108093800	Enhancers	HUVEC	blood vessel
10	chr7:108089600-108090800	Enhancers	Fetal Intestine Large	intestine
11	chr7:108089800-108090400	Enhancers	Brain Germinal Matrix	brain
12	chr7:108089800-108090600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:108089800-108090600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr7:108089800-108091000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:108089800-108091200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:108089800-108093200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:108090000-108090600	Weak transcription	Brain Angular Gyrus	brain
18	chr7:108090000-108090800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:108090000-108091000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:108090000-108094600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:108090000-108095000	Weak transcription	Pancreas	Pancrea
22	chr7:108090200-108090600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:108090200-108091000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:108090200-108091200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:108090200-108093800	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:108090200-108093800	Weak transcription	Fetal Brain Female	brain
27	chr7:108090200-108094200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:108090200-108094400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:108090200-108094600	Weak transcription	Brain Anterior Caudate	brain
30	chr7:108090200-108094800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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