Variant report

Variant	rs59246500
Chromosome Location	chr7:19749454-19749455
allele	A/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	WRNIP1	chr7:19747963-19749467	GM12878	blood:	n/a	n/a
2	KAP1	chr7:19748196-19749459	HEK293	kidney:	n/a	n/a
3	CHD2	chr7:19749322-19749538	HepG2	liver:	n/a	n/a
4	MXI1	chr7:19747451-19749751	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr7:19748067-19749619	SK-N-SH	brain:	n/a	chr7:19748776-19748797 chr7:19748774-19748792 chr7:19748777-19748786

No.	Distal block	Cell Line	Cell type
1	chr7:19748857..19751346-chr7:20255213..20257656,2	K562	blood:
2	chr7:19740820..19745529-chr7:19747045..19749777,5	MCF-7	breast:
3	chr7:19745274..19751651-chr7:20366071..20371531,8	MCF-7	breast:
4	chr7:19737218..19740997-chr7:19747742..19750274,4	K562	blood:
5	chr7:19748380..19750241-chr7:20367987..20371074,3	MCF-7	breast:

Variant related genes	Relation type
MIR3146	TF binding region
TWISTNB	TF binding region
ENSG00000105849	Chromatin interaction
ENSG00000183742	Chromatin interaction
ENSG00000105855	Chromatin interaction
ENSG00000271133	Chromatin interaction
ENSG00000233834	Chromatin interaction
ENSG00000265932	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57721271	0.94[AFR][1000 genomes]
rs61365732	0.84[AFR][1000 genomes]
rs73680664	0.87[AFR][1000 genomes]
rs73680666	0.87[AFR][1000 genomes]
rs73680668	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680674	0.91[AFR][1000 genomes];1.00[AMR][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	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv524807	chr7:19714156-19803925	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv830918	chr7:19747674-19914527	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19747600-19749600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:19748200-19749600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr7:19749000-19749600	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:19749000-19749600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr7:19749000-19749600	Flanking Active TSS	Brain Angular Gyrus	brain
6	chr7:19749000-19749600	Flanking Active TSS	Brain Hippocampus Middle	brain
7	chr7:19749000-19749600	Enhancers	Fetal Muscle Leg	muscle
8	chr7:19749200-19749600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr7:19749200-19749600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr7:19749200-19749600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:19749200-19749600	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr7:19749200-19749600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr7:19749200-19749600	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr7:19749200-19749600	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr7:19749200-19749600	Enhancers	Dnd41	blood
16	chr7:19749200-19749800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr7:19749200-19750200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr7:19749200-19750400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr7:19749400-19749600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:19749400-19749600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr7:19749400-19749600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr7:19749400-19749600	Enhancers	Brain Cingulate Gyrus	brain
23	chr7:19749400-19749600	Flanking Active TSS	Ovary	ovary
24	chr7:19749400-19749600	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr7:19749400-19749600	Enhancers	HepG2	liver
26	chr7:19749400-19749600	Enhancers	K562	blood
27	chr7:19749400-19749800	Enhancers	Pancreatic Islets	Pancreatic Islet

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