Variant report

Variant	rs1718948
Chromosome Location	chr7:112457722-112457723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112457341..112459401-chr7:112460833..112463216,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12539085	0.82[EUR][1000 genomes]
rs1533851	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547554	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718944	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1718961	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1718967	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796512	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1996843	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396573	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396574	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2687267	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708295	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2708296	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3997335	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3997336	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494324	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs548994	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs549688	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs552304	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs564494	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs565641	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58858661	0.80[EUR][1000 genomes]
rs62472532	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs672911	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs685259	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6948575	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6953522	0.83[EUR][1000 genomes]
rs6967716	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785774	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs821782	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs821783	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs821785	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs821787	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9969347	0.88[EUR][1000 genomes];0.85[ASN][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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1031405	chr7:112431403-112476756	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv429801	chr7:112434049-112477049	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv2752145	chr7:112434049-112500049	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv1023222	chr7:112434413-112476756	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv1034863	chr7:112434413-112504160	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
9	nsv5905	chr7:112445425-112521797	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112442800-112472800	Weak transcription	Lung	lung
2	chr7:112451200-112469200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:112454800-112458600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:112454800-112463200	Weak transcription	HUVEC	blood vessel
5	chr7:112455400-112467600	Weak transcription	Primary T cells from cord blood	blood
6	chr7:112455800-112458600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:112456000-112461800	Weak transcription	Fetal Intestine Large	intestine
8	chr7:112456000-112461800	Weak transcription	Left Ventricle	heart
9	chr7:112456000-112465800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:112456200-112459600	Weak transcription	Fetal Lung	lung
11	chr7:112456200-112461600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr7:112456200-112467800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:112456200-112468600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:112456400-112458000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:112456400-112467800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:112456400-112470000	Weak transcription	Right Ventricle	heart
17	chr7:112456600-112461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:112456600-112468000	Weak transcription	HSMMtube	muscle
19	chr7:112456600-112470200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:112456800-112464800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:112456800-112465200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:112457000-112461800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:112457000-112464400	Weak transcription	Fetal Stomach	stomach
24	chr7:112457200-112460400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:112457200-112461600	Weak transcription	Liver	Liver
26	chr7:112457200-112461800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:112457200-112461800	Weak transcription	Dnd41	blood
28	chr7:112457200-112461800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr7:112457200-112465200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:112457200-112468000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:112457200-112468400	Weak transcription	Fetal Brain Male	brain
32	chr7:112457200-112469600	Weak transcription	Ovary	ovary
33	chr7:112457200-112470000	Weak transcription	Fetal Thymus	thymus
34	chr7:112457400-112461400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:112457400-112461800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:112457400-112468600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:112457600-112458000	ZNF genes & repeats	Aorta	Aorta
38	chr7:112457600-112461800	Weak transcription	Adipose Nuclei	Adipose
39	chr7:112457600-112464400	Strong transcription	Primary B cells from cord blood	blood
40	chr7:112457600-112468400	Weak transcription	GM12878-XiMat	blood
41	chr7:112457600-112469400	Weak transcription	Brain Germinal Matrix	brain
42	chr7:112457600-112474000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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