Variant report

Variant	rs73591450
Chromosome Location	chr16:82192215-82192216
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	chr16:82184389..82188133-chr16:82192183..82193900,3	K562	blood:
2	chr16:82189635..82192403-chr16:82201354..82205072,3	K562	blood:

Variant related genes	Relation type
ENSG00000135698	Chromatin interaction
ENSG00000261029	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs13335963	1.00[EUR][1000 genomes]
rs13337285	1.00[EUR][1000 genomes]
rs16956540	0.92[AFR][1000 genomes]
rs16956562	0.91[AFR][1000 genomes]
rs16956613	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56704220	0.88[EUR][1000 genomes]
rs57035666	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57080322	0.88[EUR][1000 genomes]
rs57573650	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57899428	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57928709	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs59651447	0.87[AFR][1000 genomes]
rs60776905	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61198904	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs62047176	0.81[AMR][1000 genomes]
rs6564986	0.91[AFR][1000 genomes]
rs6564988	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6564990	1.00[EUR][1000 genomes]
rs6564991	1.00[EUR][1000 genomes]
rs6564992	1.00[EUR][1000 genomes]
rs6564993	1.00[EUR][1000 genomes]
rs6564994	1.00[EUR][1000 genomes]
rs6564995	1.00[EUR][1000 genomes]
rs7184881	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7186070	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7186267	0.87[AFR][1000 genomes]
rs7187457	0.85[AFR][1000 genomes]
rs7188170	0.90[AFR][1000 genomes]
rs7191392	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7191907	0.87[AFR][1000 genomes]
rs7193358	0.87[AFR][1000 genomes]
rs7195032	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7195527	0.81[AFR][1000 genomes]
rs7196909	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7200987	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7202424	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73589694	0.87[AFR][1000 genomes]
rs73589701	0.84[AFR][1000 genomes]
rs73591403	0.87[AFR][1000 genomes]
rs73591406	0.86[AFR][1000 genomes]
rs73591410	0.90[AFR][1000 genomes]
rs73591415	0.88[AFR][1000 genomes]
rs73591419	0.87[AFR][1000 genomes]
rs73591424	0.87[AFR][1000 genomes]
rs73591440	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73591453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73591454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591483	1.00[EUR][1000 genomes]
rs73591486	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73591491	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73591498	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73593205	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73593211	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73593219	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73593240	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73593254	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73593256	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73593257	0.80[EUR][1000 genomes]
rs8050837	1.00[EUR][1000 genomes]
rs8053704	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8056380	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057418	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057629	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8060652	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8061937	0.87[AMR][1000 genomes];0.92[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	nsv457578	chr16:82136566-82197883	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv573366	chr16:82136566-82197883	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv907013	chr16:82154619-82196808	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82168000-82195400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:82168400-82195600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr16:82168600-82195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr16:82170800-82195800	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:82171200-82193400	Weak transcription	Ovary	ovary
6	chr16:82172800-82199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:82173400-82203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:82177000-82195200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr16:82177600-82194000	Weak transcription	Hela-S3	cervix
10	chr16:82179200-82196000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr16:82179800-82196200	Weak transcription	Fetal Heart	heart
12	chr16:82180800-82195600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr16:82181000-82194000	Weak transcription	Pancreas	Pancrea
14	chr16:82181200-82193400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:82181200-82193600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:82181200-82194000	Weak transcription	Aorta	Aorta
17	chr16:82181200-82194000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:82181200-82194000	Weak transcription	Gastric	stomach
19	chr16:82181200-82194200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr16:82181200-82195800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:82181200-82196600	Weak transcription	Small Intestine	intestine
22	chr16:82181600-82194000	Weak transcription	Right Ventricle	heart
23	chr16:82181600-82194600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr16:82181600-82195400	Weak transcription	GM12878-XiMat	blood
25	chr16:82181800-82193400	Weak transcription	Colonic Mucosa	Colon
26	chr16:82181800-82194200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr16:82182200-82193400	Weak transcription	Fetal Thymus	thymus
28	chr16:82183000-82193400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr16:82183000-82193400	Weak transcription	Fetal Muscle Leg	muscle
30	chr16:82183000-82193400	Weak transcription	Spleen	Spleen
31	chr16:82183000-82193400	Weak transcription	HUVEC	blood vessel
32	chr16:82183000-82193800	Weak transcription	Brain Hippocampus Middle	brain
33	chr16:82183000-82194000	Weak transcription	Brain Angular Gyrus	brain
34	chr16:82183000-82194000	Weak transcription	Esophagus	oesophagus
35	chr16:82183000-82194000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr16:82183200-82193200	Weak transcription	Brain Anterior Caudate	brain
37	chr16:82183200-82194000	Weak transcription	Brain Substantia Nigra	brain
38	chr16:82183600-82194000	Weak transcription	Lung	lung
39	chr16:82183800-82193400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr16:82183800-82193400	Weak transcription	Thymus	Thymus
41	chr16:82184200-82194400	Weak transcription	NH-A	brain
42	chr16:82184400-82192600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr16:82184400-82193400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr16:82184400-82194000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:82184600-82193000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr16:82185000-82193400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr16:82186000-82199200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr16:82186000-82201600	Strong transcription	Primary T cells from cord blood	blood
49	chr16:82186400-82194000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr16:82186400-82202800	Weak transcription	Psoas Muscle	Psoas

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