Variant report

Variant	rs2951948
Chromosome Location	chr6:76076114-76076115
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	chr6:76076024-76076374	MCF-7	breast:	n/a	n/a
2	GATA3	chr6:76075873-76076296	MCF-7	breast:	n/a	n/a
3	GATA3	chr6:76075861-76076660	MCF-7	breast:	n/a	n/a
4	TCF7L2	chr6:76075991-76076354	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
FILIP1	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs16886411	0.81[JPT][hapmap]
rs240374	0.81[JPT][hapmap]
rs2703663	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2703664	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703684	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2703700	0.82[AFR][1000 genomes]
rs2703710	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808191	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2808193	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2808195	0.82[AFR][1000 genomes]
rs2808196	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2808200	0.82[AFR][1000 genomes]
rs2842456	0.82[AFR][1000 genomes]
rs2842457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2951933	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2951935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2951938	0.82[AFR][1000 genomes]
rs2951940	0.95[YRI][hapmap]
rs2951944	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2951951	0.84[AFR][1000 genomes]
rs2951953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2998370	0.82[AFR][1000 genomes]
rs2998374	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2998376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3822870	0.81[JPT][hapmap]
rs4301274	1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes]
rs4529264	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61569012	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62414164	0.93[ASN][1000 genomes]
rs72493037	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73453738	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73453748	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73453775	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73453794	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73455708	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7741596	0.81[JPT][hapmap]

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	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv830698	chr6:75968810-76115592	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76059600-76078600	Weak transcription	Psoas Muscle	Psoas
2	chr6:76059600-76079600	Weak transcription	Lung	lung
3	chr6:76059800-76077800	Weak transcription	Adipose Nuclei	Adipose
4	chr6:76059800-76077800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:76059800-76078200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:76063400-76083600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:76063800-76076200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:76069800-76078200	Weak transcription	HSMMtube	muscle
9	chr6:76071600-76077200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:76071600-76078800	Weak transcription	Aorta	Aorta
11	chr6:76072200-76078000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:76072600-76077800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:76072800-76077800	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:76073600-76077200	Weak transcription	Right Ventricle	heart
15	chr6:76073600-76078000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:76073600-76078200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:76074600-76077800	Weak transcription	Fetal Heart	heart
18	chr6:76075400-76077200	Weak transcription	Left Ventricle	heart
19	chr6:76075400-76077600	Enhancers	A549	lung
20	chr6:76075800-76076200	Enhancers	Fetal Lung	lung
21	chr6:76076000-76077600	Weak transcription	Colon Smooth Muscle	Colon

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