Variant report

Variant	rs1527683
Chromosome Location	chr1:74822937-74822938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10493540	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs12141619	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs1333029	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs1417892	0.85[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap]
rs41323947	0.85[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004451	chr1:74107125-74874389	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv534999	chr1:74107125-74874389	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1011308	chr1:74545016-74932777	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1007414	chr1:74726454-74976335	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv535002	chr1:74726454-74976335	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv870654	chr1:74762198-74858724	ZNF genes & repeats Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1010042	chr1:74798856-75001977	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv461984	chr1:74804833-74874471	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv546577	chr1:74804833-74874471	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1527683	TNNI3K	cis	cerebellum	SCAN
rs1527683	TNNI3K	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74809200-74830200	Weak transcription	Left Ventricle	heart
2	chr1:74821200-74844400	Weak transcription	Right Ventricle	heart
3	chr1:74821600-74823600	Enhancers	HepG2	liver
4	chr1:74821600-74823800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:74821600-74824000	Enhancers	Fetal Heart	heart
6	chr1:74821800-74823200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:74821800-74823200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:74821800-74823200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:74822200-74823000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:74822200-74823000	Enhancers	Brain Cingulate Gyrus	brain
11	chr1:74822200-74823000	Active TSS	A549	lung
12	chr1:74822200-74823200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:74822400-74823000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:74822400-74823000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:74822400-74823400	Enhancers	Fetal Brain Male	brain
16	chr1:74822400-74824000	Active TSS	Brain Hippocampus Middle	brain
17	chr1:74822600-74823000	Enhancers	Brain Angular Gyrus	brain
18	chr1:74822600-74823200	Enhancers	Fetal Brain Female	brain
19	chr1:74822600-74824200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:74822800-74823000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:74822800-74823000	Active TSS	Brain Anterior Caudate	brain
22	chr1:74822800-74823000	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr1:74822800-74823200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:74822800-74823200	Enhancers	Brain Germinal Matrix	brain
25	chr1:74822800-74823400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:74822800-74823400	Weak transcription	NH-A	brain

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