Variant report

Variant	rs67583972
Chromosome Location	chr7:27955688-27955689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10239787	0.83[ASN][1000 genomes]
rs10250533	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275982	1.00[ASN][1000 genomes]
rs10278615	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531234	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13226126	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13236531	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28507096	0.83[ASN][1000 genomes]
rs35135622	1.00[ASN][1000 genomes]
rs4722745	0.83[ASN][1000 genomes]
rs56410344	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7787576	0.83[ASN][1000 genomes]
rs7804500	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804617	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805497	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1024819	chr7:27949955-28020969	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv520555	chr7:27952629-27958750	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27926600-27956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:27937600-27956200	Weak transcription	Gastric	stomach
3	chr7:27941200-27956200	Weak transcription	Aorta	Aorta
4	chr7:27941400-27957600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:27941400-27990800	Weak transcription	Primary T cells from cord blood	blood
6	chr7:27941600-27956000	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:27941600-27962800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:27942200-27956000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr7:27942400-28005600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr7:27949000-27957400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:27950400-27957400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:27950400-27963000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:27950600-27956800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:27950600-27957000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:27950600-27957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:27950600-27957200	Weak transcription	HSMMtube	muscle
17	chr7:27950800-27958200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:27951400-27963000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:27952200-27956000	Weak transcription	HMEC	breast
20	chr7:27952600-27959000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:27952600-27960200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:27953600-27959400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:27954000-27957000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:27954200-27959600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:27954400-27956800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:27954400-27959600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:27954600-27957000	Weak transcription	Fetal Heart	heart
28	chr7:27954600-27957200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:27954600-27962600	Weak transcription	Right Ventricle	heart
30	chr7:27954600-27963000	Weak transcription	Left Ventricle	heart
31	chr7:27955000-27956200	Weak transcription	Primary B cells from cord blood	blood
32	chr7:27955000-27956600	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:27955200-27956400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:27955200-27958400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:27955200-27962600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:27955600-27955800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr7:27955600-27957000	Enhancers	A549	lung

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