Variant report

Variant	rs60311519
Chromosome Location	chr1:57773486-57773487
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	GATA2	chr1:57773116-57774065	SH-SY5Y	brain:	n/a	chr1:57773778-57773799
2	POLR2A	chr1:57773013-57773711	PFSK-1	brain:	n/a	n/a
3	CHD2	chr1:57773420-57773555	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
DAB1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12060287	1.00[ASN][1000 genomes]
rs12401405	1.00[ASN][1000 genomes]
rs12410761	1.00[ASN][1000 genomes]
rs1394396	1.00[ASN][1000 genomes]
rs149766	1.00[ASN][1000 genomes]
rs17460074	1.00[ASN][1000 genomes]
rs510230	1.00[ASN][1000 genomes]
rs524780	1.00[ASN][1000 genomes]
rs72676921	1.00[ASN][1000 genomes]
rs72676927	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57770000-57775400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:57770800-57776000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:57771000-57773800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr1:57771600-57774000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:57771800-57773800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr1:57771800-57773800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr1:57771800-57774400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:57772000-57773800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:57772000-57774000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:57772600-57773800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr1:57772600-57773800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:57772600-57773800	Flanking Active TSS	Fetal Intestine Large	intestine
13	chr1:57772600-57774000	Flanking Active TSS	Fetal Intestine Small	intestine
14	chr1:57773000-57773600	Enhancers	NHEK	skin
15	chr1:57773000-57778400	Weak transcription	Brain Angular Gyrus	brain
16	chr1:57773200-57774200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:57773200-57790200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:57773400-57773600	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr1:57773400-57773600	Enhancers	HepG2	liver
20	chr1:57773400-57774000	Enhancers	Liver	Liver

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