Variant report

Variant	rs4781247
Chromosome Location	chr16:12627744-12627745
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	chr16:12611118..12612757-chr16:12625721..12628602,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs62026883	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
9	nsv571465	chr16:12625395-12639800	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1045473	chr16:12625727-12636982	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1044975	chr16:12625727-12637363	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1041164	chr16:12625727-12637908	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1054084	chr16:12625727-12650247	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12605800-12632200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr16:12606000-12632000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr16:12606200-12632400	Weak transcription	Right Atrium	heart
4	chr16:12608000-12632400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr16:12610000-12632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:12610800-12632200	Weak transcription	Psoas Muscle	Psoas
7	chr16:12611600-12632400	Weak transcription	Left Ventricle	heart
8	chr16:12612400-12632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
10	chr16:12619000-12632200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr16:12619800-12632000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr16:12620600-12630200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr16:12621000-12632400	Weak transcription	Adipose Nuclei	Adipose
14	chr16:12621600-12628000	Weak transcription	GM12878-XiMat	blood
15	chr16:12624000-12631600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:12624000-12632000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr16:12624000-12632400	Weak transcription	Aorta	Aorta
18	chr16:12624000-12632600	Weak transcription	Lung	lung
19	chr16:12625400-12633400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr16:12625600-12630600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr16:12625600-12630600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr16:12625600-12632400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr16:12625800-12628000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr16:12625800-12629800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr16:12625800-12643400	Weak transcription	Gastric	stomach
26	chr16:12626000-12632400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:12626000-12632800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr16:12626200-12630400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr16:12626200-12631200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr16:12626200-12632200	Weak transcription	HepG2	liver
31	chr16:12626400-12627800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr16:12626400-12628200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr16:12626400-12630600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr16:12626600-12627800	Enhancers	Fetal Thymus	thymus
35	chr16:12626600-12631000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr16:12626600-12631000	Enhancers	Esophagus	oesophagus
37	chr16:12626600-12634600	Weak transcription	Primary B cells from cord blood	blood
38	chr16:12626800-12630200	Weak transcription	Spleen	Spleen
39	chr16:12626800-12636000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr16:12627000-12628200	Genic enhancers	Primary B cells from peripheral blood	blood
41	chr16:12627000-12631400	Weak transcription	Brain Anterior Caudate	brain
42	chr16:12627000-12632200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr16:12627000-12632400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:12627000-12642200	Weak transcription	Right Ventricle	heart
45	chr16:12627200-12632000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr16:12627200-12632000	Weak transcription	Brain Hippocampus Middle	brain
47	chr16:12627200-12632400	Weak transcription	Brain Angular Gyrus	brain
48	chr16:12627400-12628200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:12627400-12632200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr16:12627400-12632200	Weak transcription	Brain Substantia Nigra	brain

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