Variant report

Variant	rs6571682
Chromosome Location	chr14:35188368-35188369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2A	chr14:35188024-35188550	SK-N-SH	brain:	n/a	n/a
2	MEF2A	chr14:35187896-35188499	SK-N-SH	brain:	n/a	n/a
3	JUND	chr14:35187992-35188374	Hela-S3	cervix:	n/a	chr14:35188190-35188199 chr14:35188102-35188111 chr14:35188104-35188115

No.	Distal block	Cell Line	Cell type
1	chr14:35176925..35179103-chr14:35186723..35188584,2	K562	blood:
2	chr14:35184443..35186688-chr14:35188059..35189752,2	K562	blood:
3	chr14:35181026..35183598-chr14:35186830..35188685,2	K562	blood:
4	chr14:35183775..35186688-chr14:35186786..35189752,3	K562	blood:

Variant related genes	Relation type
CFL2	TF binding region
ENSG00000165410	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10130590	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10132108	1.00[ASN][1000 genomes]
rs10132688	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10133108	0.81[ASN][1000 genomes]
rs10133169	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10133178	0.85[ASN][1000 genomes]
rs10133549	0.85[ASN][1000 genomes]
rs10135305	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10145510	1.00[ASN][1000 genomes]
rs10146196	1.00[ASN][1000 genomes]
rs10151517	1.00[ASN][1000 genomes]
rs11627584	1.00[ASN][1000 genomes]
rs11846704	0.89[ASN][1000 genomes]
rs11851038	0.89[ASN][1000 genomes]
rs4570739	1.00[ASN][1000 genomes]
rs6571680	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6571681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66562349	0.89[EUR][1000 genomes]
rs7143158	1.00[ASN][1000 genomes]
rs7144989	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs8005011	0.85[ASN][1000 genomes]
rs8013753	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv542030	chr14:35176687-35211119	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6571682	CFL2	Cis_1M	lymphoblastoid	RTeQTL
rs6571682	CYLD	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35184200-35191800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:35184400-35188600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:35184400-35191000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:35184400-35204000	Weak transcription	Pancreas	Pancrea
5	chr14:35184800-35191800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:35184800-35192000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:35185000-35192000	Weak transcription	Liver	Liver
8	chr14:35185200-35192000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:35185200-35192000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr14:35187000-35188400	Enhancers	HSMMtube	muscle
11	chr14:35187400-35188400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr14:35187400-35188400	Enhancers	Hela-S3	cervix
13	chr14:35187400-35188400	Enhancers	Osteobl	bone
14	chr14:35187400-35188600	Enhancers	NHDF-Ad	bronchial
15	chr14:35187600-35188400	Enhancers	HSMM	muscle
16	chr14:35187600-35189400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:35187600-35189600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:35187800-35192000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:35187800-35192000	Weak transcription	NHLF	lung
20	chr14:35187800-35192200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:35188000-35188400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:35188000-35188400	Enhancers	Fetal Heart	heart
23	chr14:35188000-35188400	Enhancers	HepG2	liver
24	chr14:35188000-35188400	Enhancers	NH-A	brain
25	chr14:35188000-35189000	Enhancers	A549	lung
26	chr14:35188000-35189600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:35188200-35188800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:35188200-35192200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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