Variant report

Variant	rs2998376
Chromosome Location	chr6:76111597-76111598
allele	C/T
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	TCF12	chr6:76111595-76112763	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:76104675..76107319-chr6:76109802..76112685,2	K562	blood:

Variant related genes	Relation type
ENSG00000221332	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16886411	0.82[JPT][hapmap]
rs240374	0.82[JPT][hapmap]
rs2703663	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2703664	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2703683	0.96[AFR][1000 genomes]
rs2703684	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2808191	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808193	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808196	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842457	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2951933	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2951935	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]
rs2951940	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs2951943	0.80[AFR][1000 genomes]
rs2951944	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2951948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2951953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2998374	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2998379	0.80[AFR][1000 genomes]
rs2998380	0.80[AFR][1000 genomes]
rs3822870	0.82[JPT][hapmap]
rs414624	0.81[JPT][hapmap]
rs4301274	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4529264	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61569012	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62414164	0.81[ASN][1000 genomes]
rs72493037	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73453738	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73453748	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73453775	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73453794	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73455708	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7741596	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	nsv886182	chr6:76096230-76194007	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76106400-76113600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:76106600-76112000	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:76107400-76116200	Enhancers	Fetal Heart	heart
4	chr6:76108200-76112000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:76108200-76113000	Weak transcription	Placenta	Placenta
6	chr6:76108200-76113200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:76108200-76119000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:76108400-76111600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:76108400-76111800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:76108400-76111800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:76108400-76111800	Weak transcription	Hela-S3	cervix
12	chr6:76108400-76111800	Weak transcription	NH-A	brain
13	chr6:76108400-76112000	Weak transcription	A549	lung
14	chr6:76108400-76112000	Weak transcription	HSMM	muscle
15	chr6:76108400-76112000	Weak transcription	HSMMtube	muscle
16	chr6:76108400-76114200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr6:76108800-76111600	Weak transcription	NHDF-Ad	bronchial
18	chr6:76108800-76111800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr6:76108800-76111800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr6:76108800-76111800	Weak transcription	NHLF	lung
21	chr6:76109400-76111800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:76109800-76112000	Weak transcription	HUVEC	blood vessel
23	chr6:76109800-76113400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:76110000-76112800	Weak transcription	Right Ventricle	heart
25	chr6:76110000-76113000	Weak transcription	Fetal Lung	lung
26	chr6:76110000-76113000	Weak transcription	Left Ventricle	heart
27	chr6:76110000-76113000	Weak transcription	Right Atrium	heart
28	chr6:76111000-76113000	Weak transcription	Psoas Muscle	Psoas
29	chr6:76111000-76119600	Weak transcription	Aorta	Aorta
30	chr6:76111200-76111800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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