Variant report

Variant	rs7800668
Chromosome Location	chr7:117459043-117459044
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10248793	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10268431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56278833	0.82[AFR][1000 genomes]
rs57627307	0.85[AFR][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	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Response to methotrexate in juvenile idiopathic arthritis	24709693	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117449000-117467200	Weak transcription	Fetal Brain Female	brain
2	chr7:117451600-117459200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:117454000-117459400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:117455200-117467400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:117456400-117459200	Enhancers	HUVEC	blood vessel
6	chr7:117456400-117464600	Weak transcription	Fetal Heart	heart
7	chr7:117456600-117478200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:117458200-117459400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:117458200-117459600	Enhancers	Brain Anterior Caudate	brain
10	chr7:117458200-117460200	Enhancers	Brain Hippocampus Middle	brain
11	chr7:117458200-117461000	Enhancers	NHLF	lung
12	chr7:117458400-117459800	Enhancers	Fetal Brain Male	brain
13	chr7:117458400-117460400	Enhancers	Brain Substantia Nigra	brain
14	chr7:117458400-117460400	Enhancers	Fetal Lung	lung
15	chr7:117458600-117459400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:117458600-117460000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:117458600-117460200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:117458800-117459400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:117458800-117459600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:117458800-117459600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:117458800-117459600	Weak transcription	Fetal Kidney	kidney
22	chr7:117458800-117459800	Weak transcription	Brain Angular Gyrus	brain
23	chr7:117459000-117459200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr7:117459000-117459400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:117459000-117459400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:117459000-117460000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr7:117459000-117460200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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