Variant report

Variant	rs28405972
Chromosome Location	chr16:47690099-47690100
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47684293..47686207-chr16:47688405..47690926,2	K562	blood:
2	chr16:47689743..47692961-chr16:47700339..47703493,3	K562	blood:

Variant related genes	Relation type
ENSG00000102893	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12102280	1.00[AFR][1000 genomes]
rs12103136	1.00[AFR][1000 genomes]
rs13329876	1.00[AFR][1000 genomes]
rs13331276	1.00[AFR][1000 genomes]
rs13332687	1.00[AFR][1000 genomes]
rs13332822	1.00[AFR][1000 genomes]
rs13334553	1.00[AFR][1000 genomes]
rs13334954	1.00[AFR][1000 genomes]
rs13335589	1.00[AFR][1000 genomes]
rs13336440	1.00[AFR][1000 genomes]
rs13336864	1.00[AFR][1000 genomes]
rs13337909	1.00[AFR][1000 genomes]
rs13338192	1.00[AFR][1000 genomes]
rs13339329	1.00[AFR][1000 genomes]
rs28404995	1.00[AFR][1000 genomes]
rs28430442	1.00[AFR][1000 genomes]
rs28441575	1.00[AFR][1000 genomes]
rs28446873	1.00[AFR][1000 genomes]
rs28474983	1.00[AFR][1000 genomes]
rs28533453	1.00[AFR][1000 genomes]
rs28663455	1.00[AFR][1000 genomes]
rs28674891	1.00[AFR][1000 genomes]
rs28691569	1.00[AFR][1000 genomes]
rs28709022	1.00[AFR][1000 genomes]
rs28768157	1.00[AFR][1000 genomes]
rs28811125	1.00[AFR][1000 genomes]
rs34514482	1.00[AFR][1000 genomes]
rs9921060	1.00[AFR][1000 genomes]
rs9921690	1.00[AFR][1000 genomes]
rs9922236	1.00[AFR][1000 genomes]
rs9922531	1.00[AFR][1000 genomes]
rs9922863	1.00[AFR][1000 genomes]
rs9922954	1.00[AFR][1000 genomes]
rs9924052	1.00[AFR][1000 genomes]
rs9924144	1.00[AFR][1000 genomes]
rs9924420	1.00[AFR][1000 genomes]
rs9925039	1.00[AFR][1000 genomes]
rs9925483	1.00[AFR][1000 genomes]
rs9925499	1.00[AFR][1000 genomes]
rs9928023	1.00[AFR][1000 genomes]
rs9928782	1.00[AFR][1000 genomes]
rs9930629	1.00[AFR][1000 genomes]
rs9930919	1.00[AFR][1000 genomes]
rs9931999	1.00[AFR][1000 genomes]
rs9932380	0.87[AFR][1000 genomes]
rs9934103	1.00[AFR][1000 genomes]
rs9934849	1.00[AFR][1000 genomes]
rs9935072	1.00[AFR][1000 genomes]
rs9935386	1.00[AFR][1000 genomes]
rs9935939	1.00[AFR][1000 genomes]
rs9936017	1.00[AFR][1000 genomes]
rs9936168	1.00[AFR][1000 genomes]
rs9936755	1.00[AFR][1000 genomes]
rs9937013	1.00[AFR][1000 genomes]
rs9938457	1.00[AFR][1000 genomes]
rs9938504	1.00[AFR][1000 genomes]
rs9940019	1.00[AFR][1000 genomes]
rs9940111	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1056126	chr16:47658705-47738655	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47609600-47694400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr16:47626600-47724600	Weak transcription	Small Intestine	intestine
3	chr16:47661200-47709200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr16:47661400-47694600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr16:47661400-47697800	Weak transcription	Stomach Mucosa	stomach
6	chr16:47666200-47729800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr16:47668800-47691800	Weak transcription	Thymus	Thymus
8	chr16:47670600-47691800	Weak transcription	Pancreas	Pancrea
9	chr16:47671000-47710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:47671400-47691800	Weak transcription	Spleen	Spleen
11	chr16:47671400-47695000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:47671400-47698800	Weak transcription	Fetal Intestine Small	intestine
13	chr16:47677400-47694800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr16:47678000-47691800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:47678000-47694600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr16:47678000-47694600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr16:47678000-47694800	Weak transcription	Brain Angular Gyrus	brain
18	chr16:47678200-47691800	Weak transcription	Brain Anterior Caudate	brain
19	chr16:47678200-47735000	Weak transcription	Fetal Brain Male	brain
20	chr16:47678400-47691000	Weak transcription	Brain Germinal Matrix	brain
21	chr16:47678400-47694600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr16:47678400-47694600	Weak transcription	Brain Substantia Nigra	brain
23	chr16:47678400-47694600	Weak transcription	NHEK	skin
24	chr16:47678400-47694600	Weak transcription	Osteobl	bone
25	chr16:47678400-47694800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:47678400-47694800	Weak transcription	Right Ventricle	heart
27	chr16:47678400-47695000	Weak transcription	Fetal Brain Female	brain
28	chr16:47678400-47695600	Weak transcription	HSMMtube	muscle
29	chr16:47678400-47697800	Weak transcription	Fetal Stomach	stomach
30	chr16:47678400-47699400	Weak transcription	Esophagus	oesophagus
31	chr16:47678400-47722800	Weak transcription	NHDF-Ad	bronchial
32	chr16:47678400-47730800	Weak transcription	NH-A	brain
33	chr16:47678600-47694600	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:47678600-47694600	Weak transcription	HMEC	breast
35	chr16:47678600-47694800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr16:47678600-47733200	Weak transcription	NHLF	lung
37	chr16:47678800-47694800	Weak transcription	HUVEC	blood vessel
38	chr16:47679000-47691800	Weak transcription	Fetal Heart	heart
39	chr16:47680600-47711600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr16:47681400-47710800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr16:47681800-47694800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr16:47681800-47700200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr16:47682600-47693000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:47683400-47694600	Weak transcription	HSMM	muscle
45	chr16:47683400-47710800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:47684800-47691800	Weak transcription	Fetal Kidney	kidney
47	chr16:47685000-47717400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr16:47685200-47692800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr16:47685400-47692000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:47685400-47692000	Weak transcription	Psoas Muscle	Psoas

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