Variant report

Variant	rs7987218
Chromosome Location	chr13:30466519-30466520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:30466225-30466804	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr13:30466405-30466633	MCF-7	breast:	n/a	n/a
3	POLR2A	chr13:30466241-30466906	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr13:30466445-30466560	MCF-7	breast:	n/a	n/a
5	MAX	chr13:30466296-30466704	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr13:30465968-30467087	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30461381..30463655-chr13:30464862..30466709,2	MCF-7	breast:

Variant related genes	Relation type
LINC00297	TF binding region
ENSG00000224329	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11618268	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2388248	0.94[ASN][1000 genomes]
rs278040	0.86[EUR][1000 genomes]
rs4512947	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6490432	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9508585	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9579494	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7987218	SLC7A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30452200-30468000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30452200-30468200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:30452600-30472200	Weak transcription	Ovary	ovary
4	chr13:30462000-30468200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:30462400-30468200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr13:30463000-30467600	Weak transcription	Fetal Lung	lung
7	chr13:30463000-30468000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:30463000-30476400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr13:30463400-30468000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:30463600-30468000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:30465200-30467000	Enhancers	Brain Substantia Nigra	brain
12	chr13:30466000-30467000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:30466000-30467000	Enhancers	Brain Anterior Caudate	brain
14	chr13:30466000-30467000	Enhancers	Brain Hippocampus Middle	brain
15	chr13:30466200-30466600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:30466200-30466800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr13:30466200-30466800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr13:30466200-30466800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr13:30466200-30467000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:30466200-30467000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr13:30466200-30467000	Enhancers	Brain Cingulate Gyrus	brain
22	chr13:30466200-30467000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr13:30466400-30466600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:30466400-30466600	ZNF genes & repeats	Esophagus	oesophagus
25	chr13:30466400-30466600	Enhancers	Pancreas	Pancrea
26	chr13:30466400-30466600	Enhancers	NHDF-Ad	bronchial
27	chr13:30466400-30466800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr13:30466400-30466800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:30466400-30466800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr13:30466400-30466800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr13:30466400-30466800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:30466400-30466800	Enhancers	Brain Angular Gyrus	brain
33	chr13:30466400-30466800	Enhancers	Fetal Brain Male	brain
34	chr13:30466400-30467000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:30466400-30467000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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