Variant report

Variant	rs16948766
Chromosome Location	chr16:74907324-74907325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74907302..74909892-chr16:74910737..74913353,2	K562	blood:
2	chr16:74733479..74735052-chr16:74906892..74909261,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168404	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1051432	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13335207	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13338894	1.00[CEU][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72796673	0.97[EUR][1000 genomes]
rs72796687	0.88[AMR][1000 genomes]
rs72796688	0.82[AMR][1000 genomes]
rs72796689	0.88[AMR][1000 genomes]
rs72796692	0.88[AMR][1000 genomes]
rs72796693	0.88[AMR][1000 genomes]
rs72796695	0.88[AMR][1000 genomes]
rs72796699	0.88[AMR][1000 genomes]
rs72796700	0.82[AMR][1000 genomes]
rs72796702	0.88[AMR][1000 genomes]
rs72798605	0.88[AMR][1000 genomes]
rs9932176	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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 target site	123 gene(s)	inside rSNPs	diseases
3	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv457520	chr16:74758984-74907440	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv572976	chr16:74758984-74907440	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
11	nsv833280	chr16:74855811-75077227	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv1059764	chr16:74868327-74989488	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1064546	chr16:74868795-74989488	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv572977	chr16:74873513-74954897	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv526213	chr16:74873513-74990061	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv572978	chr16:74873574-74990004	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv1063842	chr16:74896749-74990601	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv542959	chr16:74896749-74990601	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74896800-74907600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:74896800-74925200	Weak transcription	Stomach Mucosa	stomach
3	chr16:74897000-74907600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr16:74897000-74913000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:74897000-74917400	Weak transcription	Hela-S3	cervix
6	chr16:74897200-74907600	Weak transcription	GM12878-XiMat	blood
7	chr16:74897200-74909000	Weak transcription	A549	lung
8	chr16:74897200-74914400	Weak transcription	K562	blood
9	chr16:74897800-74909000	Weak transcription	Fetal Heart	heart
10	chr16:74900200-74907600	Weak transcription	Gastric	stomach
11	chr16:74900200-74907800	Weak transcription	HSMMtube	muscle
12	chr16:74900400-74907800	Weak transcription	Brain Germinal Matrix	brain
13	chr16:74900400-74920000	Weak transcription	Fetal Brain Male	brain
14	chr16:74900600-74907600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:74900600-74907600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr16:74900600-74907600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr16:74900600-74907800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr16:74900600-74913000	Weak transcription	Colon Smooth Muscle	Colon
19	chr16:74900600-74914400	Weak transcription	HSMM	muscle
20	chr16:74900800-74907800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:74901400-74907600	Weak transcription	Colonic Mucosa	Colon
22	chr16:74901800-74907600	Weak transcription	Esophagus	oesophagus
23	chr16:74901800-74907600	Weak transcription	Pancreas	Pancrea
24	chr16:74901800-74907600	Weak transcription	Right Ventricle	heart
25	chr16:74902200-74907600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr16:74902200-74907600	Weak transcription	Spleen	Spleen
27	chr16:74902400-74912600	Weak transcription	Small Intestine	intestine
28	chr16:74902800-74907600	Weak transcription	NHLF	lung
29	chr16:74902800-74911800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr16:74902800-74917400	Weak transcription	Fetal Kidney	kidney
31	chr16:74902800-74917800	Weak transcription	Osteobl	bone
32	chr16:74902800-74918600	Weak transcription	NH-A	brain
33	chr16:74902800-74919000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr16:74903000-74909000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:74903200-74907600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:74903200-74911200	Strong transcription	Fetal Muscle Leg	muscle
37	chr16:74903200-74914400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr16:74903200-74927800	Strong transcription	Fetal Stomach	stomach
39	chr16:74903400-74907600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:74903400-74907600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr16:74903400-74907600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr16:74903400-74907800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:74903400-74909800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr16:74903400-74912600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr16:74903400-74921000	Weak transcription	HUVEC	blood vessel
46	chr16:74903400-74921400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr16:74903600-74907600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr16:74903600-74918600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr16:74903600-74921400	Weak transcription	Psoas Muscle	Psoas
50	chr16:74903800-74907400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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