Variant report

Variant	rs2602445
Chromosome Location	chr16:81016492-81016493
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	chr16:81015364..81016919-chr16:81018878..81020602,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12917718	1.00[AMR][1000 genomes]
rs1463286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2084960	1.00[AMR][1000 genomes]
rs2084961	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2084962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2317088	1.00[AMR][1000 genomes]
rs2549851	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2602422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4888119	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889238	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55735411	1.00[AMR][1000 genomes]
rs6564817	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6564823	1.00[AMR][1000 genomes]
rs7193361	1.00[AMR][1000 genomes]
rs74028849	1.00[AMR][1000 genomes]
rs804884	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs804891	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050760	1.00[AMR][1000 genomes]
rs935939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs935940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1058045	chr16:80918138-81048242	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv2756816	chr16:80972279-81027142	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv2758663	chr16:80972279-81027142	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv817744	chr16:80989859-81027685	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv11135	chr16:80997245-81028812	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv573337	chr16:80997892-81027685	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1061745	chr16:80998523-81029147	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
14	esv2753780	chr16:81010299-81028799	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80994600-81026400	Weak transcription	HSMMtube	muscle
2	chr16:80994800-81023400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:80996600-81018600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:80998400-81030800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:81001000-81020400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr16:81001400-81026400	Weak transcription	NHLF	lung
7	chr16:81001400-81038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr16:81002600-81019400	Weak transcription	HMEC	breast
9	chr16:81002800-81017800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr16:81003600-81026800	Weak transcription	Brain Substantia Nigra	brain
11	chr16:81004200-81025000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr16:81004600-81020400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr16:81005200-81030600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr16:81006200-81019200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:81006600-81021400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr16:81006600-81029800	Weak transcription	Fetal Kidney	kidney
17	chr16:81007200-81030800	Weak transcription	Psoas Muscle	Psoas
18	chr16:81007600-81027000	Weak transcription	Fetal Brain Female	brain
19	chr16:81007800-81026600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr16:81008600-81026400	Weak transcription	NHDF-Ad	bronchial
21	chr16:81009000-81026800	Weak transcription	Fetal Lung	lung
22	chr16:81009200-81021200	Weak transcription	Pancreas	Pancrea
23	chr16:81009200-81024800	Weak transcription	Gastric	stomach
24	chr16:81009200-81038800	Weak transcription	Spleen	Spleen
25	chr16:81009400-81019400	Weak transcription	Fetal Heart	heart
26	chr16:81009400-81026400	Weak transcription	Small Intestine	intestine
27	chr16:81009400-81026800	Weak transcription	Aorta	Aorta
28	chr16:81009800-81026000	Weak transcription	NH-A	brain
29	chr16:81010000-81030800	Weak transcription	Ovary	ovary
30	chr16:81012400-81020600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr16:81014000-81016600	Strong transcription	A549	lung
32	chr16:81014000-81020200	Weak transcription	Right Ventricle	heart
33	chr16:81014000-81030600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr16:81014000-81039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:81014200-81024800	Weak transcription	Brain Hippocampus Middle	brain
36	chr16:81014400-81018800	Weak transcription	HUVEC	blood vessel
37	chr16:81014400-81019600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:81014400-81019600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:81014400-81019600	Weak transcription	Thymus	Thymus
40	chr16:81014400-81020000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr16:81014400-81020200	Weak transcription	Primary T cells from cord blood	blood
42	chr16:81014400-81020200	Weak transcription	Fetal Muscle Leg	muscle
43	chr16:81014400-81023200	Weak transcription	Osteobl	bone
44	chr16:81014400-81023400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr16:81014400-81024000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:81014400-81024800	Weak transcription	Primary B cells from cord blood	blood
47	chr16:81014400-81024800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr16:81014400-81024800	Weak transcription	Fetal Thymus	thymus
49	chr16:81014400-81025000	Weak transcription	Adipose Nuclei	Adipose
50	chr16:81014400-81026400	Weak transcription	Brain Anterior Caudate	brain

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