Variant report

Variant	rs1548748
Chromosome Location	chr7:69082336-69082337
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	chr7:69081949..69083944-chr7:69084225..69087022,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1003404	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10260553	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487947	0.87[ASN][1000 genomes]
rs12670658	0.92[ASN][1000 genomes]
rs17140890	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1990444	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210602	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210605	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215354	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2533436	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2533437	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851493	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2851519	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2851520	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34701787	0.87[ASN][1000 genomes]
rs41848	0.92[ASN][1000 genomes]
rs41854	0.92[ASN][1000 genomes]
rs41857	0.92[ASN][1000 genomes]
rs4717522	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548556	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569334	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628885	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633927	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953849	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs917617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69066800-69084600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:69075400-69084600	Weak transcription	Fetal Kidney	kidney
3	chr7:69076200-69086800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:69076400-69084600	Weak transcription	Fetal Lung	lung
5	chr7:69076400-69087600	Weak transcription	Adipose Nuclei	Adipose
6	chr7:69076400-69095400	Weak transcription	Fetal Stomach	stomach
7	chr7:69078200-69084000	Weak transcription	Fetal Brain Male	brain
8	chr7:69079200-69087200	Weak transcription	Fetal Heart	heart
9	chr7:69079600-69083200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:69079800-69084200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:69079800-69085600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:69079800-69087200	Weak transcription	Brain Anterior Caudate	brain
13	chr7:69079800-69093600	Weak transcription	Brain Substantia Nigra	brain
14	chr7:69080000-69095200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:69080200-69082800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:69080200-69084200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:69080200-69084800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:69080800-69082800	Enhancers	Brain Germinal Matrix	brain
19	chr7:69080800-69083000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:69080800-69086800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:69081000-69084200	Weak transcription	Brain Angular Gyrus	brain
22	chr7:69081200-69084600	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:69081800-69085400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
24	chr7:69082000-69082400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr7:69082000-69082800	Enhancers	Fetal Brain Female	brain
26	chr7:69082000-69083000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:69082000-69083000	Enhancers	Brain Hippocampus Middle	brain
28	chr7:69082000-69083400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:69082000-69083400	Enhancers	Ovary	ovary
30	chr7:69082000-69084200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr7:69082200-69082400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
32	chr7:69082200-69082400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:69082200-69082800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:69082200-69082800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:69082200-69082800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:69082200-69082800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:69082200-69083000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:69082200-69083000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:69082200-69084600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
40	chr7:69082200-69086800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr7:69082200-69087600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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