Variant report

Variant	rs16954313
Chromosome Location	chr16:80966875-80966876
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80957146..80959233-chr16:80965352..80966876,2	MCF-7	breast:
2	chr16:80965383..80968097-chr16:81038708..81041560,2	MCF-7	breast:
3	chr16:80963937..80967554-chr16:80967751..80972204,4	K562	blood:
4	chr16:80966352..80966940-chr8:79864857..79865857,2	Hela-S3	cervix:
5	chr16:80966267..80966896-chr17:41393079..41393786,2	Hela-S3	cervix:
6	chr11:65272537..65273491-chr16:80966234..80966909,2	Hela-S3	cervix:
7	chr16:80964917..80968271-chr16:80970129..80973008,4	MCF-7	breast:
8	chr16:80950553..80953339-chr16:80965421..80967122,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000103121	Chromatin interaction
ENSG00000166451	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16954332	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16954343	1.00[ASN][1000 genomes]
rs16954355	0.88[YRI][hapmap]
rs16954388	0.82[YRI][hapmap]
rs58853620	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60421395	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60532393	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7187063	0.82[YRI][hapmap]
rs74028869	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74028870	1.00[ASN][1000 genomes]
rs74028871	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8052819	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	nsv573303	chr16:80951306-80989859	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv1055598	chr16:80954876-80993734	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv1067066	chr16:80954876-80996272	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv1059905	chr16:80954876-80998523	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	esv2760441	chr16:80954888-80998523	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv457561	chr16:80955393-80989859	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	nsv457562	chr16:80955393-80989859	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
17	nsv573304	chr16:80955393-80989859	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
18	nsv471101	chr16:80955393-80989860	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
19	nsv520122	chr16:80955393-81001915	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
20	nsv907004	chr16:80958442-81001915	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
21	nsv1062711	chr16:80959475-80988790	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
22	nsv1067350	chr16:80959475-80996272	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
23	nsv1055411	chr16:80961660-80993734	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
24	esv3430479	chr16:80966714-80966895	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80965600-80967000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr16:80965600-80967000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr16:80965600-80967000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr16:80965600-80967000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:80965600-80967000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr16:80965600-80967000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr16:80965600-80967000	Active TSS	Aorta	Aorta
8	chr16:80965600-80967000	Flanking Active TSS	Liver	Liver
9	chr16:80965600-80967000	Active TSS	Brain Cingulate Gyrus	brain
10	chr16:80965600-80967000	Active TSS	A549	lung
11	chr16:80965600-80967000	Active TSS	HSMM	muscle
12	chr16:80965600-80967000	Active TSS	NHLF	lung
13	chr16:80965800-80967000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:80965800-80967000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:80965800-80967000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr16:80965800-80967000	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr16:80966000-80967000	Active TSS	Brain Angular Gyrus	brain
18	chr16:80966000-80967000	Enhancers	Fetal Brain Male	brain
19	chr16:80966000-80967000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr16:80966000-80967000	Flanking Active TSS	NHEK	skin
21	chr16:80966200-80967000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
22	chr16:80966400-80967000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:80966400-80967000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:80966400-80967000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr16:80966400-80967000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr16:80966400-80967000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:80966400-80967000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr16:80966400-80967000	Flanking Active TSS	Fetal Brain Female	brain
29	chr16:80966400-80967000	Flanking Active TSS	Fetal Lung	lung
30	chr16:80966400-80967000	Enhancers	Gastric	stomach
31	chr16:80966400-80967000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr16:80966400-80967000	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr16:80966400-80967000	Flanking Active TSS	NHDF-Ad	bronchial
34	chr16:80966400-80967000	Flanking Active TSS	Osteobl	bone
35	chr16:80966400-80967200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:80966400-80971600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:80966600-80967000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:80966600-80967000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
39	chr16:80966600-80967000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
40	chr16:80966600-80967000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:80966600-80967000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr16:80966600-80967000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr16:80966600-80967000	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr16:80966600-80967000	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr16:80966600-80967000	Enhancers	Left Ventricle	heart
46	chr16:80966600-80967000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr16:80966600-80967000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr16:80966600-80967000	Enhancers	Small Intestine	intestine
49	chr16:80966600-80967000	Enhancers	HMEC	breast
50	chr16:80966600-80967000	Enhancers	HSMMtube	muscle

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