Variant report

Variant	rs55783560
Chromosome Location	chr16:71062021-71062022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71061827..71064339-chr16:71071388..71072891,2	K562	blood:
2	chr16:71061201..71063992-chr16:71068444..71070337,2	K562	blood:
3	chr16:71061848..71063742-chr16:71063882..71066688,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11641158	0.87[ASN][1000 genomes]
rs1512597	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28676390	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4788512	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59574088	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59609914	0.91[ASN][1000 genomes]
rs6416714	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9935325	0.83[ASN][1000 genomes]
rs9939132	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv916160	chr16:70809280-71120138	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	esv2757641	chr16:70833949-71200049	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv1057834	chr16:70842097-71075615	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	esv2446050	chr16:70845377-71202717	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1057681	chr16:70846071-71142397	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv2762121	chr16:70846071-71202797	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	esv2763140	chr16:70846071-71202797	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	esv18746	chr16:70847248-71202529	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv977996	chr16:70848125-71201713	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv1065452	chr16:70848374-71168820	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv1067462	chr16:70848374-71201367	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv542943	chr16:70848374-71201367	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	nsv1059620	chr16:70848374-71237055	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
18	nsv542944	chr16:70848374-71237055	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
19	nsv870263	chr16:70848593-71201134	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
20	nsv1057278	chr16:70854381-71142397	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv1066534	chr16:70854381-71143055	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	nsv1063374	chr16:70855190-71205896	Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
23	nsv533443	chr16:70860486-71196477	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
24	nsv1056436	chr16:70887374-71201367	Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
25	nsv916150	chr16:70907468-71167265	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
26	nsv1063878	chr16:70914539-71201367	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
27	nsv542945	chr16:70914539-71201367	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
28	nsv533450	chr16:70929925-71196477	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
29	nsv906891	chr16:70933934-71150245	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
30	nsv1064990	chr16:70940019-71177033	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
31	nsv1060582	chr16:70940551-71168820	Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
32	nsv542946	chr16:70940551-71168820	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
33	nsv916989	chr16:70955169-71167265	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
34	nsv1065386	chr16:71000097-71135048	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
35	nsv1060754	chr16:71008303-71276778	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
36	nsv1059635	chr16:71038982-71191929	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
37	esv8808	chr16:71061923-71062079	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71040400-71073800	Weak transcription	Pancreas	Pancrea
2	chr16:71047600-71063800	Weak transcription	Fetal Intestine Small	intestine
3	chr16:71047600-71068600	Weak transcription	Fetal Intestine Large	intestine
4	chr16:71048400-71065200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:71049200-71066600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:71056000-71065200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr16:71056400-71068800	Weak transcription	Brain Substantia Nigra	brain
8	chr16:71056400-71088200	Weak transcription	Brain Angular Gyrus	brain
9	chr16:71056600-71066400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr16:71056600-71088000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr16:71058200-71087800	Weak transcription	Brain Hippocampus Middle	brain
12	chr16:71059400-71062200	Weak transcription	Fetal Brain Female	brain
13	chr16:71059400-71062200	Weak transcription	Right Atrium	heart
14	chr16:71060200-71062200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr16:71060200-71064000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr16:71060400-71064200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:71060600-71063200	Enhancers	Fetal Stomach	stomach
18	chr16:71061000-71062200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:71061200-71062200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:71061200-71062600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:71061200-71062800	Enhancers	Fetal Muscle Leg	muscle
22	chr16:71061200-71063400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr16:71061400-71063200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:71061400-71063200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:71061400-71063400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:71061400-71063600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:71061600-71062400	Bivalent Enhancer	Small Intestine	intestine
28	chr16:71061600-71062600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:71061600-71062600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:71061600-71063200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr16:71061800-71062200	Weak transcription	Brain Anterior Caudate	brain
32	chr16:71061800-71062400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:71061800-71063000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr16:71061800-71069600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr16:71061800-71071400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr16:71062000-71062200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr16:71062000-71062200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr16:71062000-71062200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr16:71062000-71062200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr16:71062000-71062200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr16:71062000-71062200	Bivalent Enhancer	Left Ventricle	heart
42	chr16:71062000-71062400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
43	chr16:71062000-71062400	Enhancers	Brain Germinal Matrix	brain
44	chr16:71062000-71062400	Flanking Active TSS	NHDF-Ad	bronchial
45	chr16:71062000-71062600	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr16:71062000-71062600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:71062000-71062600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:71062000-71063000	Enhancers	Fetal Brain Male	brain

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