Variant report

Variant	rs73957746
Chromosome Location	chr2:95933563-95933564
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10176455	1.00[EUR][1000 genomes]
rs10176771	1.00[EUR][1000 genomes]
rs10187420	1.00[EUR][1000 genomes]
rs10201886	1.00[EUR][1000 genomes]
rs10202767	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13423271	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs36120917	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1007627	chr2:95878031-95973743	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv535822	chr2:95878031-95973743	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv528011	chr2:95931218-96057011	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95924000-95941200	Weak transcription	Right Ventricle	heart
2	chr2:95924400-95941400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:95925600-95953800	Weak transcription	Right Atrium	heart
4	chr2:95925800-95934000	Weak transcription	Spleen	Spleen
5	chr2:95926800-95939400	Weak transcription	Esophagus	oesophagus
6	chr2:95926800-95953600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:95930000-95956200	Weak transcription	Fetal Brain Female	brain
8	chr2:95931200-95945800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:95931400-95961000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:95931400-95961600	Weak transcription	Brain Substantia Nigra	brain
11	chr2:95932400-95961600	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:95933200-95934400	Enhancers	HSMM	muscle
13	chr2:95933200-95934600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:95933200-95934800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:95933200-95935200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:95933400-95934200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:95933400-95934200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:95933400-95934200	Enhancers	Liver	Liver

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