Variant report

Variant	rs680604
Chromosome Location	chr11:100687641-100687642
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12271498	0.85[CHD][hapmap];0.90[JPT][hapmap]
rs556146	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs55760506	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs618291	0.93[CHB][hapmap]
rs622675	0.92[CHB][hapmap];0.86[CHD][hapmap]
rs662449	0.82[CEU][hapmap]
rs7932012	0.80[ASN][1000 genomes]
rs7941077	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs680604	DYNC2H1	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100663000-100691800	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:100670000-100697400	Weak transcription	Placenta	Placenta
3	chr11:100680600-100689000	Weak transcription	Psoas Muscle	Psoas
4	chr11:100680600-100691800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:100680800-100696400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:100681200-100698000	Weak transcription	Stomach Mucosa	stomach
7	chr11:100681400-100701000	Weak transcription	HSMM	muscle
8	chr11:100682000-100688400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:100684000-100691000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:100684000-100691800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:100684200-100688800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:100684200-100689000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:100685800-100693400	Weak transcription	Primary B cells from cord blood	blood
14	chr11:100686200-100691800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:100686200-100702800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:100686800-100689000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:100687200-100689400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:100687400-100688000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:100687400-100688000	Enhancers	Fetal Lung	lung
20	chr11:100687400-100688000	Enhancers	Left Ventricle	heart
21	chr11:100687400-100688000	Enhancers	Right Atrium	heart
22	chr11:100687400-100688000	Enhancers	NH-A	brain
23	chr11:100687400-100688000	Enhancers	NHEK	skin
24	chr11:100687400-100688200	Enhancers	Fetal Heart	heart
25	chr11:100687400-100688200	Enhancers	HUVEC	blood vessel
26	chr11:100687600-100688200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:100687600-100688200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:100687600-100688600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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