Variant report

Variant	rs2482096
Chromosome Location	chr13:30077088-30077089
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30076045..30078602-chr13:30271472..30273555,2	MCF-7	breast:
2	chr13:30070420..30074031-chr13:30074570..30077509,3	MCF-7	breast:
3	chr13:30074160..30075942-chr13:30076052..30078263,2	MCF-7	breast:
4	chr13:30074865..30078261-chr13:30079505..30082420,3	K562	blood:

Variant related genes	Relation type
ENSG00000132938	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11618507	1.00[CHB][hapmap]
rs882953	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9579380	1.00[CEU][hapmap];0.99[EUR][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	nsv983696	chr13:30034016-30090454	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv430551	chr13:30061100-30113000	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv899960	chr13:30064014-30097240	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv561392	chr13:30071245-30091819	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2482096	SLC7A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30047200-30081000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:30062400-30087200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:30065000-30077200	Weak transcription	Fetal Brain Female	brain
4	chr13:30066400-30084400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:30070600-30077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:30070600-30077200	Weak transcription	Brain Anterior Caudate	brain
7	chr13:30071000-30128800	Strong transcription	Dnd41	blood
8	chr13:30072000-30078400	Strong transcription	Left Ventricle	heart
9	chr13:30072000-30080400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr13:30072400-30079200	Strong transcription	Stomach Smooth Muscle	stomach
11	chr13:30072800-30082600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr13:30074600-30077600	Strong transcription	Aorta	Aorta
13	chr13:30074800-30080400	Weak transcription	Pancreas	Pancrea
14	chr13:30074800-30082600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:30074800-30084800	Weak transcription	Gastric	stomach
16	chr13:30075400-30077800	Strong transcription	Ovary	ovary
17	chr13:30075600-30078400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:30075600-30078600	Strong transcription	Right Ventricle	heart
19	chr13:30076200-30077200	Weak transcription	Fetal Brain Male	brain
20	chr13:30076200-30079200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr13:30076400-30077400	Weak transcription	Fetal Heart	heart
22	chr13:30076400-30077600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr13:30076400-30077600	Flanking Active TSS	HSMM	muscle
24	chr13:30076600-30077200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:30076600-30077400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr13:30076800-30077200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
27	chr13:30077000-30077200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr13:30077000-30077200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr13:30077000-30077200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr13:30077000-30077200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:30077000-30077200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:30077000-30077200	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr13:30077000-30077200	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr13:30077000-30077200	Flanking Active TSS	HSMMtube	muscle
35	chr13:30077000-30077400	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr13:30077000-30077400	Active TSS	Brain Substantia Nigra	brain
37	chr13:30077000-30077400	Flanking Bivalent TSS/Enh	HepG2	liver
38	chr13:30077000-30077600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:30077000-30077600	Genic enhancers	Fetal Muscle Leg	muscle
40	chr13:30077000-30077600	Bivalent Enhancer	Placenta	Placenta
41	chr13:30077000-30077600	Bivalent Enhancer	Fetal Stomach	stomach
42	chr13:30077000-30077600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
43	chr13:30077000-30077800	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr13:30077000-30077800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr13:30077000-30077800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr13:30077000-30077800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr13:30077000-30077800	Active TSS	Osteobl	bone
48	chr13:30077000-30079800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr13:30077000-30080800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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