Variant report

Variant	rs6971858
Chromosome Location	chr7:137021705-137021706
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10238974	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11983998	1.00[EUR][1000 genomes]
rs1431094	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1534460	1.00[EUR][1000 genomes]
rs3898947	1.00[EUR][1000 genomes]
rs56701854	1.00[EUR][1000 genomes]
rs58274406	1.00[EUR][1000 genomes]
rs61018676	1.00[EUR][1000 genomes]
rs6959323	1.00[EUR][1000 genomes]
rs6961173	1.00[EUR][1000 genomes]
rs6971766	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs73450894	1.00[EUR][1000 genomes]
rs73452984	1.00[EUR][1000 genomes]
rs73452985	1.00[EUR][1000 genomes]
rs73452992	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73452996	1.00[EUR][1000 genomes]
rs73455103	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73455105	1.00[EUR][1000 genomes]
rs73728688	1.00[EUR][1000 genomes]
rs73728690	1.00[EUR][1000 genomes]
rs73728699	1.00[EUR][1000 genomes]
rs73730628	1.00[EUR][1000 genomes]
rs7780447	1.00[AMR][1000 genomes]
rs7800546	1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv889240	chr7:136972027-137038092	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv889241	chr7:136976713-137038092	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869820	chr7:136990386-137347718	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027868	chr7:137004690-137311653	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539134	chr7:137004690-137311653	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv889242	chr7:137005808-137081223	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6971858	IGF2BP3	trans	lymphoblastoid	seeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137012000-137022600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:137016600-137024400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:137016600-137025200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:137016600-137026800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:137016600-137027000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:137016600-137027000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:137016600-137027800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:137016800-137024400	Weak transcription	Fetal Brain Female	brain
9	chr7:137016800-137025400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:137017000-137025200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:137017000-137025400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:137020000-137025400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:137020000-137025400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr7:137020200-137022000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr7:137020200-137023200	Enhancers	Brain Angular Gyrus	brain
16	chr7:137020200-137025800	Enhancers	Brain Substantia Nigra	brain
17	chr7:137020400-137021800	Enhancers	Brain Cingulate Gyrus	brain
18	chr7:137020400-137025000	Enhancers	Brain Hippocampus Middle	brain
19	chr7:137020800-137022600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:137021200-137022600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:137021200-137026200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:137021200-137026800	Weak transcription	NH-A	brain
23	chr7:137021200-137027200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:137021200-137027200	Weak transcription	HMEC	breast
25	chr7:137021400-137022600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:137021400-137023800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:137021400-137027600	Weak transcription	Esophagus	oesophagus
28	chr7:137021600-137023000	Weak transcription	Brain Anterior Caudate	brain
29	chr7:137021600-137025200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:137021600-137026200	Weak transcription	Fetal Stomach	stomach

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