Variant report

Variant	rs62451072
Chromosome Location	chr7:27882316-27882317
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27877749..27879466-chr7:27881187..27883816,2	K562	blood:
2	chr7:27877025..27879466-chr7:27881187..27883994,3	K562	blood:
3	chr7:27701860..27704389-chr7:27881950..27883537,2	K562	blood:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 52 )
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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]
rs11984239	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17150567	0.85[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	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28805873	1.00[ASN][1000 genomes]
rs56172733	0.88[ASN][1000 genomes]
rs58979783	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61179177	1.00[ASN][1000 genomes]
rs61446104	0.85[AMR][1000 genomes];0.96[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]
rs62451074	0.83[AMR][1000 genomes];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:7 , 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	nsv5677	chr7:27839504-27884505	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	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
7	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:27847600-27885200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr7:27858200-27882600	Weak transcription	Esophagus	oesophagus
4	chr7:27866000-27884600	Strong transcription	Primary B cells from cord blood	blood
5	chr7:27869600-27882800	Strong transcription	Primary B cells from peripheral blood	blood
6	chr7:27870600-27891800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:27871400-27889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:27872800-27886000	Weak transcription	HMEC	breast
9	chr7:27872800-27890000	Weak transcription	Fetal Lung	lung
10	chr7:27873000-27882600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:27873800-27886200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:27874000-27883200	Strong transcription	Fetal Stomach	stomach
13	chr7:27874400-27888600	Weak transcription	Brain Angular Gyrus	brain
14	chr7:27874600-27882600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:27874600-27882600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:27875200-27913000	Weak transcription	Right Atrium	heart
17	chr7:27876200-27913000	Weak transcription	Fetal Heart	heart
18	chr7:27876400-27886200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:27877600-27882600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:27878800-27884800	Weak transcription	Thymus	Thymus
21	chr7:27879000-27884800	Weak transcription	Fetal Intestine Large	intestine
22	chr7:27880000-27891600	Weak transcription	Osteobl	bone
23	chr7:27880400-27882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:27880400-27884400	Enhancers	Fetal Brain Female	brain
25	chr7:27880400-27891000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:27880600-27882400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:27880600-27882600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:27880600-27882600	Weak transcription	Pancreas	Pancrea
29	chr7:27880600-27882800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:27880600-27883000	Weak transcription	Fetal Thymus	thymus
31	chr7:27880600-27883600	Weak transcription	Left Ventricle	heart
32	chr7:27880600-27889000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:27880600-27903000	Weak transcription	Lung	lung
34	chr7:27880600-27913600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:27880800-27882600	Weak transcription	Brain Anterior Caudate	brain
36	chr7:27880800-27882600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:27880800-27882800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:27880800-27882800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:27880800-27883600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:27880800-27884200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:27880800-27895600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr7:27880800-27896600	Weak transcription	Spleen	Spleen
43	chr7:27880800-27896800	Weak transcription	Gastric	stomach
44	chr7:27880800-27913200	Weak transcription	Aorta	Aorta
45	chr7:27881000-27883000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:27881000-27883400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:27881000-27905600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr7:27881200-27883200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:27881200-27883800	Enhancers	Fetal Brain Male	brain
50	chr7:27881200-27895800	Weak transcription	Primary T cells from cord blood	blood

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