Variant report

Variant	rs7341614
Chromosome Location	chr8:68561439-68561440
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10504404	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10504405	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[ASN][1000 genomes]
rs10957389	1.00[CEU][hapmap]
rs11984622	1.00[CEU][hapmap]
rs11987279	0.85[ASN][1000 genomes]
rs11994817	1.00[CEU][hapmap]
rs12115004	1.00[CEU][hapmap]
rs16933341	1.00[CEU][hapmap]
rs16933449	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16933491	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824270	1.00[CEU][hapmap]
rs4386963	1.00[CEU][hapmap]
rs6472314	1.00[CEU][hapmap]
rs6997587	0.85[ASN][1000 genomes]
rs7018199	1.00[CEU][hapmap]
rs764608	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7813822	1.00[JPT][hapmap]
rs7825466	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[ASN][1000 genomes]
rs966593	1.00[CEU][hapmap]
rs966594	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1032986	chr8:68468044-68789883	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv530518	chr8:68521420-68973114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv2761195	chr8:68544033-68568185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1034081	chr8:68547447-68561738	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1023152	chr8:68548120-68561738	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7341614	CCDC19	trans	lymphoblastoid	seeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68559200-68562200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:68559600-68562000	Enhancers	Primary hematopoietic stem cells	blood
3	chr8:68559800-68563000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:68560000-68561600	Enhancers	Brain Hippocampus Middle	brain
5	chr8:68560000-68561800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:68560000-68561800	Enhancers	Fetal Brain Male	brain
7	chr8:68560000-68562800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:68560200-68561600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:68560200-68562800	Enhancers	Adipose Nuclei	Adipose
10	chr8:68560200-68563000	Enhancers	Colon Smooth Muscle	Colon
11	chr8:68560800-68562200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:68560800-68562600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:68560800-68571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:68561000-68562000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:68561000-68562000	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:68561000-68562000	Weak transcription	Fetal Stomach	stomach
17	chr8:68561000-68562200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr8:68561000-68573400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:68561400-68562400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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