Variant report

Variant	rs73591498
Chromosome Location	chr16:82201854-82201855
allele	A/T
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	POLR2A	chr16:82200674-82204569	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr16:82199140-82201949	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82171180..82173441-chr16:82201395..82203780,2	MCF-7	breast:
2	chr16:82181923..82184718-chr16:82200148..82202665,2	K562	blood:

Variant related genes	Relation type
ENSG00000261029	TF binding region
ENSG00000261235	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs16956540	0.82[AFR][1000 genomes]
rs16956562	0.81[AFR][1000 genomes]
rs16956613	0.81[AMR][1000 genomes]
rs34375324	1.00[ASN][1000 genomes]
rs57035666	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57573650	0.98[AFR][1000 genomes]
rs57899428	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57928709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60689879	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60776905	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61198904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62047176	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62047177	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62047178	0.86[EUR][1000 genomes]
rs6564986	0.81[AFR][1000 genomes]
rs6564988	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7184881	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7186070	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7191392	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7195032	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7200987	0.81[AMR][1000 genomes]
rs7202424	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7205603	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73591415	0.82[AFR][1000 genomes]
rs73591419	0.85[AFR][1000 genomes]
rs73591424	0.85[AFR][1000 genomes]
rs73591450	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73591453	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73591454	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73591483	0.82[AFR][1000 genomes]
rs73591486	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73591491	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73593205	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73593211	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73593219	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73593240	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73593254	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73593256	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8053704	0.98[AFR][1000 genomes]
rs8056380	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8057418	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8057629	0.81[AMR][1000 genomes]
rs8060652	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8061937	0.81[AMR][1000 genomes]
rs8191241	1.00[ASN][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82173400-82203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:82186400-82202800	Weak transcription	Psoas Muscle	Psoas
3	chr16:82186600-82202600	Weak transcription	Stomach Mucosa	stomach
4	chr16:82188400-82202200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr16:82193400-82202000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr16:82193800-82202000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr16:82195800-82202000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:82196200-82202200	Weak transcription	Esophagus	oesophagus
9	chr16:82196400-82202800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:82196400-82203000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:82196400-82203400	Weak transcription	Aorta	Aorta
12	chr16:82196400-82203400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr16:82196600-82202400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr16:82196600-82202400	Weak transcription	Spleen	Spleen
15	chr16:82197200-82202400	Weak transcription	Liver	Liver
16	chr16:82197200-82202600	Weak transcription	Fetal Heart	heart
17	chr16:82197200-82202600	Weak transcription	Hela-S3	cervix
18	chr16:82197200-82203000	Weak transcription	Gastric	stomach
19	chr16:82197200-82203000	Weak transcription	Left Ventricle	heart
20	chr16:82197200-82203000	Weak transcription	Pancreas	Pancrea
21	chr16:82197400-82202200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr16:82197400-82202200	Weak transcription	Brain Substantia Nigra	brain
23	chr16:82197400-82202400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr16:82197400-82202800	Weak transcription	Right Ventricle	heart
25	chr16:82197400-82203000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr16:82197800-82202200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr16:82197800-82202400	Weak transcription	Small Intestine	intestine
28	chr16:82198000-82202400	Weak transcription	Colon Smooth Muscle	Colon
29	chr16:82198200-82202400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:82198400-82202200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr16:82198400-82202400	Weak transcription	HUVEC	blood vessel
32	chr16:82198600-82202400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr16:82199200-82202000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:82199200-82202000	Strong transcription	Fetal Thymus	thymus
35	chr16:82199400-82202000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:82199600-82202400	Weak transcription	Brain Angular Gyrus	brain
37	chr16:82199600-82202600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr16:82199600-82202600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr16:82199800-82202200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr16:82199800-82202600	Weak transcription	Adipose Nuclei	Adipose
41	chr16:82199800-82203000	Weak transcription	Ovary	ovary
42	chr16:82200000-82202400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr16:82200000-82202400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr16:82200000-82202600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr16:82200000-82202800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr16:82200000-82203200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr16:82200200-82202200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr16:82200200-82202400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr16:82200200-82202400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr16:82200200-82202400	Weak transcription	Brain Inferior Temporal Lobe	brain

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