Variant report

Variant	rs4242268
Chromosome Location	chr5:36440968-36440969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36411850..36414736-chr5:36440428..36442973,2	K562	blood:
2	chr5:36438756..36441045-chr5:36448106..36450259,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4242267	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6863105	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517278	chr5:36430755-36445802	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv597816	chr5:36431978-36443160	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv597817	chr5:36433782-36460075	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv597818	chr5:36440940-36460462	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4242268	LIFR	cis	parietal	SCAN
rs4242268	RAI14	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36436000-36441000	Weak transcription	Placenta	Placenta
2	chr5:36438600-36443000	Enhancers	Brain Hippocampus Middle	brain
3	chr5:36438800-36442600	Enhancers	Brain Germinal Matrix	brain
4	chr5:36438800-36442600	Enhancers	Hela-S3	cervix
5	chr5:36439000-36442400	Enhancers	Brain Substantia Nigra	brain
6	chr5:36439200-36446600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:36439400-36441800	Weak transcription	Esophagus	oesophagus
8	chr5:36439800-36441200	Enhancers	Fetal Brain Male	brain
9	chr5:36439800-36446400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:36440000-36441000	Weak transcription	Brain Angular Gyrus	brain
11	chr5:36440000-36441800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:36440000-36442200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:36440000-36444600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:36440200-36441000	Enhancers	Fetal Brain Female	brain
15	chr5:36440200-36441600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:36440200-36442400	Weak transcription	Fetal Thymus	thymus
17	chr5:36440200-36444200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:36440200-36444200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:36440400-36442200	Enhancers	Brain Cingulate Gyrus	brain
20	chr5:36440600-36445600	Enhancers	Stomach Mucosa	stomach
21	chr5:36440600-36445800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:36440800-36441000	Flanking Active TSS	K562	blood
23	chr5:36440800-36441200	Enhancers	Fetal Kidney	kidney
24	chr5:36440800-36441800	Weak transcription	Brain Anterior Caudate	brain
25	chr5:36440800-36442400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:36440800-36442600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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