Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr14:32675854-32676016	GM12878	blood:	n/a	chr14:32675939-32675952 chr14:32675939-32675952 chr14:32675940-32675954 chr14:32675936-32675954
2	ELK1	chr14:32675812-32676085	GM12878	blood:	n/a	n/a
3	JUND	chr14:32675072-32676567	GM12878	blood:	n/a	chr14:32675403-32675410 chr14:32675402-32675411 chr14:32675402-32675410 chr14:32675400-32675411 chr14:32675401-32675410
4	SRF	chr14:32675821-32676009	GM12878	blood:	n/a	chr14:32675939-32675952 chr14:32675939-32675952 chr14:32675940-32675954 chr14:32675936-32675954

No.	Distal block	Cell Line	Cell type
1	chr14:32672725..32675021-chr14:32675763..32678202,4	K562	blood:
2	chr14:32674899..32676937-chr14:32680136..32682555,2	K562	blood:
3	chr14:32672713..32675385-chr14:32675596..32677310,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-8	TF binding region

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

rs_ID	r²[population]
rs1007279	0.83[CEU][hapmap]
rs11624220	1.00[ASN][1000 genomes]
rs17098697	1.00[ASN][1000 genomes]
rs1958364	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958365	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34186445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35176317	1.00[ASN][1000 genomes]
rs35312946	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36004481	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981953	0.83[CEU][hapmap];0.81[MEX][hapmap]
rs55688151	1.00[ASN][1000 genomes]
rs61981813	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981814	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140557	1.00[ASN][1000 genomes]
rs7144586	0.83[CEU][hapmap];0.87[MEX][hapmap]
rs7157943	1.00[ASN][1000 genomes]
rs7160483	0.83[CEU][hapmap]
rs72664699	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74043718	1.00[ASN][1000 genomes]
rs8012469	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832764	chr14:32564468-32723213	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS 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	8 gene(s)	inside rSNPs	diseases
2	esv3527777	chr14:32669175-32761850	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3527778	chr14:32669175-32761850	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	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
rs17388327	AKAP6	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32673600-32677400	Weak transcription	Small Intestine	intestine
2	chr14:32673600-32688200	Weak transcription	Left Ventricle	heart
3	chr14:32673600-32692800	Weak transcription	Psoas Muscle	Psoas
4	chr14:32673800-32679200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:32673800-32682000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:32673800-32682000	Weak transcription	NHEK	skin
7	chr14:32674200-32679400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr14:32675200-32677200	Enhancers	Fetal Intestine Small	intestine
9	chr14:32675400-32676200	Enhancers	Fetal Heart	heart
10	chr14:32675400-32677200	Enhancers	Fetal Intestine Large	intestine
11	chr14:32675800-32680000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:32675800-32682000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:32675800-32694000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:32676000-32676200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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