Variant report

Variant	rs7200834
Chromosome Location	chr16:12622574-12622575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12615906..12618586-chr16:12621155..12622694,2	K562	blood:
2	chr16:12606559..12609069-chr16:12621569..12623714,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12444976	1.00[ASN][1000 genomes]
rs16959823	1.00[ASN][1000 genomes]
rs169774	1.00[ASN][1000 genomes]
rs1794305	1.00[ASN][1000 genomes]
rs184127	1.00[ASN][1000 genomes]
rs1894967	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs190013	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs210723	1.00[ASN][1000 genomes]
rs2157063	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28697103	1.00[ASN][1000 genomes]
rs4781243	0.81[EUR][1000 genomes]
rs4781244	0.81[EUR][1000 genomes]
rs4781245	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4781258	1.00[ASN][1000 genomes]
rs56275803	1.00[ASN][1000 genomes]
rs59416912	1.00[ASN][1000 genomes]
rs62028167	1.00[ASN][1000 genomes]
rs62028255	1.00[ASN][1000 genomes]
rs62028256	1.00[ASN][1000 genomes]
rs62028257	1.00[ASN][1000 genomes]
rs62028660	1.00[ASN][1000 genomes]
rs6416654	1.00[ASN][1000 genomes]
rs6498319	1.00[ASN][1000 genomes]
rs7198031	1.00[ASN][1000 genomes]
rs72775223	1.00[ASN][1000 genomes]
rs72775229	1.00[ASN][1000 genomes]
rs72775241	1.00[ASN][1000 genomes]
rs74009122	1.00[ASN][1000 genomes]
rs74009123	1.00[ASN][1000 genomes]
rs8055769	1.00[ASN][1000 genomes]
rs8059085	1.00[ASN][1000 genomes]
rs8060370	1.00[ASN][1000 genomes]
rs8061129	1.00[ASN][1000 genomes]
rs8061662	1.00[ASN][1000 genomes]
rs8062191	1.00[ASN][1000 genomes]
rs9924730	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9929012	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1038535	chr16:12620736-12636982	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12601400-12625400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr16:12602200-12622600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:12603200-12626400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr16:12605600-12625000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:12605800-12632200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:12606000-12623600	Weak transcription	Gastric	stomach
7	chr16:12606000-12632000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr16:12606200-12632400	Weak transcription	Right Atrium	heart
9	chr16:12607000-12623600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr16:12607000-12625600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr16:12607800-12626200	Weak transcription	Brain Germinal Matrix	brain
12	chr16:12608000-12632400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:12608200-12624000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr16:12608400-12623800	Weak transcription	Brain Angular Gyrus	brain
15	chr16:12608400-12623800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr16:12608400-12623800	Weak transcription	Brain Substantia Nigra	brain
17	chr16:12608800-12623600	Weak transcription	Brain Hippocampus Middle	brain
18	chr16:12609000-12623600	Weak transcription	Brain Anterior Caudate	brain
19	chr16:12609600-12623600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr16:12609600-12623800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr16:12610000-12625000	Weak transcription	Fetal Stomach	stomach
22	chr16:12610000-12632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:12610800-12632200	Weak transcription	Psoas Muscle	Psoas
24	chr16:12611600-12632400	Weak transcription	Left Ventricle	heart
25	chr16:12612000-12625400	Weak transcription	Ovary	ovary
26	chr16:12612200-12623800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr16:12612400-12626600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:12612400-12626600	Weak transcription	Right Ventricle	heart
29	chr16:12612400-12632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:12612600-12623000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:12612600-12626400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:12613000-12625400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
34	chr16:12614400-12623400	Weak transcription	Placenta	Placenta
35	chr16:12616000-12626600	Weak transcription	Thymus	Thymus
36	chr16:12616200-12623600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr16:12616200-12623800	Weak transcription	Aorta	Aorta
38	chr16:12617000-12626600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr16:12617400-12627000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr16:12618000-12623800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:12618600-12626200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr16:12619000-12626000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr16:12619000-12632200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr16:12619800-12632000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr16:12620200-12622800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr16:12620600-12622800	Strong transcription	Spleen	Spleen
47	chr16:12620600-12625400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr16:12620600-12630200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr16:12620800-12623800	Weak transcription	Lung	lung
50	chr16:12620800-12625400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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