Variant report

Variant	rs11643220
Chromosome Location	chr16:81422926-81422927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81409476..81411284-chr16:81422287..81424681,2	MCF-7	breast:
2	chr16:81417073..81419356-chr16:81422898..81425873,2	K562	blood:
3	chr16:81422912..81425576-chr16:81496658..81498919,2	K562	blood:
4	chr16:81399492..81401511-chr16:81421134..81423707,2	K562	blood:
5	chr16:81422372..81424000-chr16:81428464..81431283,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GAN-1	chr16:81422143-81423143	NONHSAT143945
2	lnc-GAN-1	chr16:81421430-81424413	NONHSAT143948

No data

Variant related genes	Relation type
ENSG00000272923	Chromatin interaction
ENSG00000273048	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1075352	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1075353	0.90[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs11150385	1.00[MEX][hapmap]
rs11639534	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11640238	0.96[ASN][1000 genomes]
rs11861886	1.00[GIH][hapmap]
rs11862778	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs11866374	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs16955031	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs16955059	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs16955067	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs16955109	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs16955113	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs16955203	1.00[GIH][hapmap]
rs16955210	1.00[GIH][hapmap]
rs28561847	0.92[ASN][1000 genomes]
rs35385837	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4386128	1.00[EUR][1000 genomes]
rs62046509	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7191094	0.96[ASN][1000 genomes]
rs7203686	1.00[MEX][hapmap]
rs73586406	0.96[ASN][1000 genomes]
rs8057691	0.81[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs9935105	1.00[GIH][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 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	chr16:81384200-81434600	Weak transcription	NHLF	lung
2	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
3	chr16:81386400-81424200	Weak transcription	Psoas Muscle	Psoas
4	chr16:81387000-81428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:81392000-81428400	Weak transcription	Fetal Heart	heart
6	chr16:81397400-81426400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:81399200-81431000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:81400000-81427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:81400000-81434600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:81406600-81423800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr16:81411200-81424400	Weak transcription	Colonic Mucosa	Colon
12	chr16:81411200-81428400	Weak transcription	GM12878-XiMat	blood
13	chr16:81411400-81428000	Weak transcription	Spleen	Spleen
14	chr16:81411400-81428200	Weak transcription	Stomach Mucosa	stomach
15	chr16:81411400-81429200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr16:81411400-81429600	Weak transcription	HSMM	muscle
17	chr16:81411600-81428600	Weak transcription	Fetal Kidney	kidney
18	chr16:81411600-81437400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr16:81411800-81423000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr16:81411800-81424400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:81411800-81424600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:81411800-81428200	Weak transcription	Fetal Brain Female	brain
23	chr16:81411800-81428200	Weak transcription	Osteobl	bone
24	chr16:81411800-81428600	Weak transcription	HSMMtube	muscle
25	chr16:81411800-81431000	Weak transcription	K562	blood
26	chr16:81411800-81432400	Weak transcription	A549	lung
27	chr16:81412000-81423000	Weak transcription	Thymus	Thymus
28	chr16:81412000-81424400	Weak transcription	Aorta	Aorta
29	chr16:81412000-81424600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:81412000-81424600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr16:81412000-81426200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr16:81412200-81424400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:81412200-81425400	Weak transcription	NH-A	brain
34	chr16:81412200-81425600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr16:81412200-81434400	Weak transcription	Hela-S3	cervix
36	chr16:81412400-81425200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:81412400-81425600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr16:81412600-81426600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr16:81412600-81427000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:81412600-81427200	Weak transcription	NHDF-Ad	bronchial
41	chr16:81413000-81423600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr16:81413000-81428400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr16:81413400-81425800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr16:81413400-81434200	Weak transcription	HMEC	breast
45	chr16:81414000-81426600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr16:81415200-81427600	Weak transcription	Primary B cells from cord blood	blood
47	chr16:81415400-81423000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr16:81415400-81423000	Weak transcription	Dnd41	blood
49	chr16:81415400-81423200	Weak transcription	Pancreas	Pancrea
50	chr16:81415600-81437000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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