Variant report

Variant	rs55994249
Chromosome Location	chr16:71187038-71187039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr16:71186722-71187574	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr16:71186718-71187702	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr16:71186717-71187569	H1-hESC	embryonic stem cell:	n/a	chr16:71187291-71187300
4	MYC	chr16:71186662-71187991	H1-hESC	embryonic stem cell:	n/a	chr16:71187291-71187300
5	E2F6	chr16:71187037-71187830	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr16:71186893-71187728	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr16:71186705-71187923	H1-hESC	embryonic stem cell:	n/a	chr16:71187883-71187900 chr16:71187290-71187303 chr16:71187291-71187302
8	JUND	chr16:71186734-71187495	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71186848..71188995-chr16:71196832..71198957,2	K562	blood:

Variant related genes	Relation type
HYDIN	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28479930	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56667773	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs58065503	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499471	0.93[AMR][1000 genomes]
rs7187402	0.88[AMR][1000 genomes]
rs7192570	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7202322	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7206161	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs731316	0.93[AMR][1000 genomes]
rs8061216	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926497	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933596	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	nsv1063730	chr16:71072087-71196303	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	nsv1055139	chr16:71140675-71196303	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71158400-71191600	Weak transcription	Fetal Intestine Small	intestine
2	chr16:71163200-71191600	Weak transcription	Fetal Stomach	stomach
3	chr16:71175000-71187200	Weak transcription	Brain Germinal Matrix	brain
4	chr16:71183800-71191800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr16:71185600-71187400	Weak transcription	Esophagus	oesophagus
6	chr16:71185600-71188800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:71185600-71189400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:71185600-71191600	Weak transcription	Fetal Lung	lung
9	chr16:71185600-71192600	Weak transcription	Fetal Intestine Large	intestine
10	chr16:71185600-71192800	Weak transcription	Fetal Brain Male	brain
11	chr16:71185600-71192800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr16:71185800-71192800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr16:71186000-71187400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr16:71186400-71187200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr16:71186400-71187600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:71186400-71188000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr16:71186400-71188000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr16:71186400-71188000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr16:71186400-71188200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr16:71186400-71189000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr16:71186400-71189800	Enhancers	Fetal Thymus	thymus
22	chr16:71186600-71187800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:71186600-71187800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr16:71186600-71187800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:71186600-71187800	Enhancers	Brain Substantia Nigra	brain
26	chr16:71186600-71187800	Flanking Active TSS	Dnd41	blood
27	chr16:71186600-71188000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr16:71186600-71188000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:71186600-71188000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr16:71186600-71188000	Enhancers	Brain Anterior Caudate	brain
31	chr16:71186600-71189200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:71186800-71187200	Weak transcription	Fetal Brain Female	brain
33	chr16:71186800-71187400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr16:71186800-71187600	Enhancers	Brain Angular Gyrus	brain
35	chr16:71186800-71187600	Enhancers	Brain Cingulate Gyrus	brain
36	chr16:71186800-71187800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr16:71186800-71188000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:71186800-71189200	Enhancers	Brain Hippocampus Middle	brain
39	chr16:71186800-71191800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr16:71186800-71191800	Weak transcription	Pancreas	Pancrea
41	chr16:71186800-71192600	Weak transcription	Fetal Kidney	kidney
42	chr16:71187000-71187400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr16:71187000-71187600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr16:71187000-71187800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr16:71187000-71187800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr16:71187000-71187800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr16:71187000-71188800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr16:71187000-71192800	Weak transcription	Stomach Smooth Muscle	stomach

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