Variant report

Variant	rs6710594
Chromosome Location	chr2:100291105-100291106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs11682649	0.82[EUR][1000 genomes]
rs12712053	0.83[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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6710594	IL1RL1	cis	cerebellum	SCAN
rs6710594	MRPL30	cis	cerebellum	SCAN
rs6710594	TSGA10	cis	cerebellum	SCAN
rs6710594	LYG1	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100253200-100308800	Weak transcription	Gastric	stomach
2	chr2:100257600-100308600	Weak transcription	Thymus	Thymus
3	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:100274200-100297400	Weak transcription	Liver	Liver
5	chr2:100276400-100302000	Weak transcription	Left Ventricle	heart
6	chr2:100276600-100295800	Weak transcription	Right Atrium	heart
7	chr2:100279400-100295000	Weak transcription	Fetal Brain Male	brain
8	chr2:100282600-100308600	Weak transcription	Ovary	ovary
9	chr2:100282800-100291400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:100286000-100294000	Weak transcription	Fetal Brain Female	brain
11	chr2:100286000-100297800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:100286000-100301000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:100286000-100305600	Weak transcription	Fetal Thymus	thymus
14	chr2:100286600-100336800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:100287000-100298200	Weak transcription	Dnd41	blood
16	chr2:100287800-100291600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:100288000-100291800	Weak transcription	Right Ventricle	heart
18	chr2:100288200-100291400	Enhancers	Primary B cells from peripheral blood	blood
19	chr2:100288400-100296800	Weak transcription	NH-A	brain
20	chr2:100288800-100302200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:100289000-100300400	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:100289400-100291200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:100289400-100295600	Weak transcription	Fetal Heart	heart
24	chr2:100289800-100296400	Weak transcription	Fetal Lung	lung
25	chr2:100290200-100291400	Strong transcription	Primary T cells from cord blood	blood
26	chr2:100290200-100305000	Strong transcription	Primary B cells from cord blood	blood
27	chr2:100290400-100292200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:100290400-100298800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:100290600-100304800	Weak transcription	Fetal Kidney	kidney
30	chr2:100290800-100293400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:100291000-100291200	Enhancers	Lung	lung
32	chr2:100291000-100292800	Weak transcription	Spleen	Spleen

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