Variant report

Variant	rs2312931
Chromosome Location	chr6:76205619-76205620
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	GATA3	chr6:76205618-76206555	A549	lung:	n/a	chr6:76205910-76205919
2	GATA3	chr6:76205592-76206378	SK-N-SH	brain:	n/a	chr6:76205910-76205919
3	ZNF384	chr6:76205599-76206514	GM12878	blood:	n/a	n/a
4	STAT3	chr6:76205572-76206370	GM12878	blood:	n/a	chr6:76206254-76206263 chr6:76206255-76206264
5	TCF12	chr6:76205546-76206568	A549	lung:	n/a	n/a
6	EBF1	chr6:76205311-76206495	GM12878	blood:	n/a	chr6:76206011-76206024 chr6:76206011-76206022
7	CHD1	chr6:76205615-76206303	GM12878	blood:	n/a	n/a
8	GATA3	chr6:76205595-76206350	SK-N-SH	brain:	n/a	chr6:76205910-76205919
9	EP300	chr6:76205501-76206485	GM12878	blood:	n/a	chr6:76206254-76206263 chr6:76205710-76205724
10	RELA	chr6:76205559-76206421	GM12878	blood:	n/a	n/a
11	TBP	chr6:76205599-76206429	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:76195765..76197358-chr6:76204255..76207065,2	K562	blood:

Variant related genes	Relation type
RPL26P20	TF binding region
FILIP1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10943251	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752498	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12196018	0.89[EUR][1000 genomes]
rs36008280	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58534189	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7747947	0.89[EUR][1000 genomes]
rs9343298	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9350589	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9352214	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9360911	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9447494	0.89[EUR][1000 genomes]
rs9447501	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
5	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
6	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
7	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
8	nsv1019328	chr6:76154751-76604197	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv538314	chr6:76154751-76604197	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking 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	44 gene(s)	inside rSNPs	diseases
10	nsv603770	chr6:76200514-76277296	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2312931	SENP6	cis	Whole Blood	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76203200-76214400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:76203600-76206200	Weak transcription	Pancreas	Pancrea
3	chr6:76203800-76214400	Weak transcription	Left Ventricle	heart
4	chr6:76203800-76215000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:76204000-76206000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:76204000-76206800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:76204000-76209400	Weak transcription	Psoas Muscle	Psoas
8	chr6:76204200-76205800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:76204200-76206000	Weak transcription	Right Atrium	heart
10	chr6:76204200-76206200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:76204200-76206600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:76204400-76206200	Enhancers	Fetal Heart	heart
13	chr6:76204400-76206200	Flanking Active TSS	A549	lung
14	chr6:76204400-76206600	Enhancers	Adipose Nuclei	Adipose
15	chr6:76204600-76206200	Enhancers	Fetal Muscle Leg	muscle
16	chr6:76204600-76206400	Enhancers	Colon Smooth Muscle	Colon
17	chr6:76204800-76206000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr6:76204800-76206200	Enhancers	Fetal Stomach	stomach
19	chr6:76204800-76206400	Enhancers	Fetal Lung	lung
20	chr6:76205000-76213600	Enhancers	HUVEC	blood vessel
21	chr6:76205200-76205800	Enhancers	NHDF-Ad	bronchial
22	chr6:76205400-76206200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:76205400-76206400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr6:76205400-76206600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:76205400-76206600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr6:76205400-76208600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:76205400-76213200	Weak transcription	NHLF	lung
28	chr6:76205600-76205800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:76205600-76206000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:76205600-76206000	Flanking Active TSS	GM12878-XiMat	blood
31	chr6:76205600-76206200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr6:76205600-76206200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:76205600-76206600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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