Variant report

Variant	rs57080322
Chromosome Location	chr16:82198835-82198836
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82192311..82195081-chr16:82198371..82200683,2	K562	blood:
2	chr16:82192940..82199910-chr16:82200069..82205182,12	MCF-7	breast:
3	chr16:82185928..82187822-chr16:82197235..82199870,2	MCF-7	breast:
4	chr16:82196485..82199484-chr16:82202307..82204878,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261029	Chromatin interaction
ENSG00000135698	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs13335963	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13337285	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16956613	0.88[EUR][1000 genomes]
rs56704220	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57035666	1.00[EUR][1000 genomes]
rs57573650	0.88[EUR][1000 genomes]
rs57899428	0.96[EUR][1000 genomes]
rs60776905	0.96[EUR][1000 genomes]
rs6564988	0.84[EUR][1000 genomes]
rs6564990	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6564991	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6564992	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6564993	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6564994	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6564995	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7184881	0.84[EUR][1000 genomes]
rs7186070	0.84[EUR][1000 genomes]
rs7191392	0.84[EUR][1000 genomes]
rs7195032	0.96[EUR][1000 genomes]
rs7196909	0.88[EUR][1000 genomes]
rs7200987	0.92[EUR][1000 genomes]
rs7202424	0.84[EUR][1000 genomes]
rs73591440	0.84[EUR][1000 genomes]
rs73591450	0.88[EUR][1000 genomes]
rs73591453	0.81[EUR][1000 genomes]
rs73591454	0.88[EUR][1000 genomes]
rs73591483	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73591486	0.84[EUR][1000 genomes]
rs73591491	0.96[EUR][1000 genomes]
rs73593205	0.96[EUR][1000 genomes]
rs73593211	0.96[EUR][1000 genomes]
rs73593219	0.96[EUR][1000 genomes]
rs73593254	0.84[EUR][1000 genomes]
rs73593257	0.84[EUR][1000 genomes]
rs73593260	0.80[EUR][1000 genomes]
rs8050837	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8053704	0.88[EUR][1000 genomes]
rs8056380	0.88[EUR][1000 genomes]
rs8057418	0.88[EUR][1000 genomes]
rs8057629	0.92[EUR][1000 genomes]
rs8060652	0.89[EUR][1000 genomes]
rs8061937	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv457579	chr16:82150293-82216622	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv573368	chr16:82150293-82216622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv525467	chr16:82154619-82223485	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1061064	chr16:82165314-82213799	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1056381	chr16:82165314-82215388	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1062687	chr16:82165516-82213799	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv518129	chr16:82188173-82228076	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv833302	chr16:82188351-82363863	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv1844598	chr16:82195234-82429790	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv1847414	chr16:82195234-82429790	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv532600	chr16:82197554-82314289	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr16:82172800-82199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:82173400-82203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:82186000-82199200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:82186000-82201600	Strong transcription	Primary T cells from cord blood	blood
5	chr16:82186400-82202800	Weak transcription	Psoas Muscle	Psoas
6	chr16:82186600-82202600	Weak transcription	Stomach Mucosa	stomach
7	chr16:82187400-82200600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:82188400-82202200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr16:82189800-82199200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:82191000-82201000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:82191200-82199200	Strong transcription	Primary B cells from cord blood	blood
12	chr16:82191200-82200800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr16:82191200-82201000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr16:82191400-82201000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr16:82192000-82200400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:82192400-82200800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr16:82192600-82201200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:82193000-82199200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:82193000-82200400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr16:82193000-82201600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr16:82193200-82199800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr16:82193200-82200000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr16:82193200-82200400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr16:82193200-82200800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr16:82193200-82200800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:82193200-82201000	Strong transcription	Fetal Intestine Large	intestine
27	chr16:82193200-82201800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr16:82193400-82200200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr16:82193400-82200400	Strong transcription	Dnd41	blood
30	chr16:82193400-82200800	Strong transcription	HMEC	breast
31	chr16:82193400-82201200	Strong transcription	Fetal Muscle Leg	muscle
32	chr16:82193400-82201200	Strong transcription	NHLF	lung
33	chr16:82193400-82201400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr16:82193400-82201600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:82193400-82201600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:82193400-82201600	Strong transcription	Fetal Stomach	stomach
37	chr16:82193400-82201800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr16:82193400-82201800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:82193400-82202000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr16:82193600-82201400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:82193800-82200800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr16:82193800-82200800	Strong transcription	Brain Hippocampus Middle	brain
43	chr16:82193800-82202000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr16:82194000-82199200	Strong transcription	Fetal Brain Female	brain
45	chr16:82194000-82200400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr16:82194000-82200800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr16:82194000-82200800	Strong transcription	K562	blood
48	chr16:82194000-82201000	Strong transcription	HSMM	muscle
49	chr16:82194000-82201400	Strong transcription	NHEK	skin
50	chr16:82194000-82201600	Strong transcription	H9 Cell Line	embryonic stem cell

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