Variant report

Variant	rs1986740
Chromosome Location	chr4:153085941-153085942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10023167	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721471	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727188	0.84[ASN][1000 genomes]
rs6535843	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849420	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6858503	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv880774	chr4:153035743-153121818	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1986740	RP11-18H21.1	cis	Whole Blood	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:153078000-153090600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:153083400-153086000	Weak transcription	NH-A	brain
3	chr4:153083400-153086200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:153083800-153089000	Weak transcription	Right Atrium	heart
5	chr4:153085000-153087600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:153085200-153087800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:153085400-153087200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:153085600-153086000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:153085600-153086000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:153085600-153086000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:153085600-153086000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:153085600-153086600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:153085600-153086600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:153085600-153086600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:153085600-153086800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:153085600-153087200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:153085600-153087400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:153085600-153087800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:153085800-153086000	ZNF genes & repeats	Aorta	Aorta
20	chr4:153085800-153086000	Enhancers	HSMMtube	muscle
21	chr4:153085800-153086800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr4:153085800-153087000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:153085800-153087000	Enhancers	HMEC	breast
24	chr4:153085800-153087400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:153085800-153087400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:153085800-153087600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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