Variant report

Variant	rs72964103
Chromosome Location	chr2:101035304-101035305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr2:101034958-101035320	K562	blood:	n/a	n/a
2	MXI1	chr2:101035038-101035322	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101032545..101035627-chr2:101179557..101182939,4	K562	blood:
2	chr2:100937085..100941836-chr2:101033510..101036438,4	MCF-7	breast:
3	chr2:101033038..101035627-chr2:101178228..101182939,5	K562	blood:
4	chr2:100876984..100878779-chr2:101034439..101036226,2	K562	blood:
5	chr2:100936794..100939483-chr2:101033248..101035645,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56032565	1.00[AFR][1000 genomes]
rs56670471	0.88[AFR][1000 genomes]
rs61083278	0.85[AFR][1000 genomes]
rs72962118	0.97[AFR][1000 genomes]
rs72962168	1.00[AFR][1000 genomes]
rs72962175	1.00[AFR][1000 genomes]
rs72962177	0.81[AFR][1000 genomes]
rs72964107	1.00[AFR][1000 genomes]
rs73968397	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription 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	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv829583	chr2:101031032-101038750	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:101034400-101036000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:101034400-101037000	Weak transcription	Spleen	Spleen
3	chr2:101034400-101038400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:101034600-101035600	Enhancers	Fetal Thymus	thymus
5	chr2:101034600-101036200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:101034600-101037000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:101034600-101037400	Weak transcription	Fetal Lung	lung
8	chr2:101034600-101038800	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:101034600-101043000	Weak transcription	Placenta	Placenta
10	chr2:101034800-101035400	Enhancers	K562	blood
11	chr2:101034800-101036200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:101034800-101036200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:101034800-101038800	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:101034800-101043800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:101035000-101040000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:101035200-101035400	Bivalent Enhancer	HepG2	liver
17	chr2:101035200-101039800	Weak transcription	NHDF-Ad	bronchial
18	chr2:101035200-101040400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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