Variant report

Variant	rs11984239
Chromosome Location	chr7:27885302-27885303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10228505	1.00[ASN][1000 genomes]
rs10228576	0.97[ASN][1000 genomes]
rs10245536	1.00[ASN][1000 genomes]
rs10281008	1.00[ASN][1000 genomes]
rs10486562	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761430	0.94[ASN][1000 genomes]
rs11761467	0.94[ASN][1000 genomes]
rs11763610	0.88[ASN][1000 genomes]
rs11763861	0.88[ASN][1000 genomes]
rs11765837	0.88[ASN][1000 genomes]
rs11768570	0.88[ASN][1000 genomes]
rs11769157	0.88[ASN][1000 genomes]
rs17150567	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155691	0.81[ASN][1000 genomes]
rs17155744	0.85[ASN][1000 genomes]
rs17155797	0.88[ASN][1000 genomes]
rs17155802	0.88[ASN][1000 genomes]
rs17155863	0.94[ASN][1000 genomes]
rs17692264	0.94[ASN][1000 genomes]
rs17692895	0.90[ASN][1000 genomes]
rs2285929	1.00[ASN][1000 genomes]
rs28432782	1.00[ASN][1000 genomes]
rs28693893	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28805873	1.00[ASN][1000 genomes]
rs56172733	0.88[ASN][1000 genomes]
rs58979783	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61179177	1.00[ASN][1000 genomes]
rs61446104	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62449628	0.88[ASN][1000 genomes]
rs62449630	0.88[ASN][1000 genomes]
rs62451066	0.88[ASN][1000 genomes]
rs62451068	0.94[ASN][1000 genomes]
rs62451070	0.94[ASN][1000 genomes]
rs62451071	1.00[ASN][1000 genomes]
rs62451072	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62451074	1.00[ASN][1000 genomes]
rs62451078	1.00[ASN][1000 genomes]
rs62454809	0.88[ASN][1000 genomes]
rs6979972	1.00[ASN][1000 genomes]
rs73075305	0.94[ASN][1000 genomes]
rs73075333	0.94[ASN][1000 genomes]
rs73078746	0.88[ASN][1000 genomes]
rs73078762	0.88[ASN][1000 genomes]
rs739900	1.00[ASN][1000 genomes]
rs7797888	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	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27870600-27891800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:27871400-27889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:27872800-27886000	Weak transcription	HMEC	breast
4	chr7:27872800-27890000	Weak transcription	Fetal Lung	lung
5	chr7:27873800-27886200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:27874400-27888600	Weak transcription	Brain Angular Gyrus	brain
7	chr7:27875200-27913000	Weak transcription	Right Atrium	heart
8	chr7:27876200-27913000	Weak transcription	Fetal Heart	heart
9	chr7:27876400-27886200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:27880000-27891600	Weak transcription	Osteobl	bone
11	chr7:27880400-27891000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:27880600-27889000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:27880600-27903000	Weak transcription	Lung	lung
14	chr7:27880600-27913600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:27880800-27895600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr7:27880800-27896600	Weak transcription	Spleen	Spleen
17	chr7:27880800-27896800	Weak transcription	Gastric	stomach
18	chr7:27880800-27913200	Weak transcription	Aorta	Aorta
19	chr7:27881000-27905600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr7:27881200-27895800	Weak transcription	Primary T cells from cord blood	blood
21	chr7:27881600-27895600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:27881800-27896600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:27882000-27885400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:27882200-27885600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:27882600-27895400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:27882800-27885800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:27882800-27886600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:27882800-27888800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:27882800-27912000	Weak transcription	Brain Anterior Caudate	brain
30	chr7:27883600-27896000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:27883600-27903000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:27883800-27892000	Weak transcription	Fetal Stomach	stomach
33	chr7:27883800-27903000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:27884600-27886000	Weak transcription	Primary B cells from cord blood	blood
35	chr7:27884600-27895800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:27885200-27900400	Weak transcription	Monocytes-CD14+_RO01746	blood

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