Variant report

Variant	rs9567997
Chromosome Location	chr13:48684982-48684983
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	chr13:48610309..48612694-chr13:48684921..48687258,2	K562	blood:

Variant related genes	Relation type
ENSG00000136143	Chromatin interaction
ENSG00000136159	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4941625	0.81[ASN][1000 genomes]
rs4941626	0.81[ASN][1000 genomes]
rs4942745	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3351626	chr13:48684923-48685097	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9567997	SUCLA2	Cis_1M	lymphoblastoid	RTeQTL
rs9567997	MED4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48669800-48685400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr13:48680800-48685200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:48681200-48685000	Weak transcription	Small Intestine	intestine
4	chr13:48683400-48687800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr13:48683600-48686000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr13:48683800-48685200	Weak transcription	Left Ventricle	heart
7	chr13:48683800-48685200	Weak transcription	Right Atrium	heart
8	chr13:48683800-48685600	Enhancers	Liver	Liver
9	chr13:48683800-48685800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:48683800-48685800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:48683800-48686400	Enhancers	Brain Anterior Caudate	brain
12	chr13:48683800-48686400	Enhancers	Hela-S3	cervix
13	chr13:48684000-48685200	Weak transcription	Brain Angular Gyrus	brain
14	chr13:48684000-48685200	Weak transcription	Psoas Muscle	Psoas
15	chr13:48684000-48685400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr13:48684000-48686600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:48684400-48685000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:48684400-48686000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:48684400-48686200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:48684600-48685000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:48684600-48685000	Weak transcription	Adipose Nuclei	Adipose
22	chr13:48684600-48685000	Flanking Active TSS	HepG2	liver
23	chr13:48684600-48685000	Flanking Active TSS	Osteobl	bone
24	chr13:48684600-48685400	Enhancers	Duodenum Mucosa	Duodenum
25	chr13:48684600-48685800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr13:48684600-48686000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:48684600-48686000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr13:48684600-48686000	Enhancers	HMEC	breast
29	chr13:48684600-48686200	Enhancers	Brain Substantia Nigra	brain
30	chr13:48684600-48686400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:48684600-48686400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:48684600-48686400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr13:48684800-48685200	Enhancers	HUVEC	blood vessel
34	chr13:48684800-48685800	Enhancers	NH-A	brain

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