Variant report

Variant	rs6564988
Chromosome Location	chr16:82187267-82187268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82181355..82183363-chr16:82185760..82189196,3	MCF-7	breast:
2	chr16:82169199..82174282-chr16:82184479..82189945,7	MCF-7	breast:
3	chr16:82177951..82181955-chr16:82182501..82188169,6	MCF-7	breast:
4	chr16:82185928..82187822-chr16:82197235..82199870,2	MCF-7	breast:
5	chr16:82184389..82188133-chr16:82192183..82193900,3	K562	blood:
6	chr16:82185992..82189074-chr16:82193243..82196142,4	MCF-7	breast:
7	chr16:82185139..82187826-chr20:49350354..49352985,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261235	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11645604	0.89[YRI][hapmap]
rs13335963	0.96[EUR][1000 genomes]
rs13337285	0.96[EUR][1000 genomes]
rs16956540	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs16956556	0.81[YRI][hapmap]
rs16956562	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs16956576	0.85[YRI][hapmap]
rs16956613	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56704220	0.84[EUR][1000 genomes]
rs57035666	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57080322	0.84[EUR][1000 genomes]
rs57573650	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57899428	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57928709	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs59651447	0.83[AFR][1000 genomes]
rs60776905	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61198904	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs62047176	0.81[AMR][1000 genomes]
rs6564986	0.91[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6564990	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs6564991	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6564992	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6564993	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6564994	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6564995	0.96[EUR][1000 genomes]
rs7184881	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7186070	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7186267	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs7187457	0.83[AFR][1000 genomes]
rs7188170	0.94[LWK][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs7191392	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7191907	0.81[AFR][1000 genomes]
rs7193358	0.81[AFR][1000 genomes]
rs7195032	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7195527	0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs7196909	1.00[CEU][hapmap];0.95[GIH][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7200987	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7202019	0.85[YRI][hapmap]
rs7202424	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589694	0.81[AFR][1000 genomes]
rs73589701	0.82[AFR][1000 genomes]
rs73591403	0.81[AFR][1000 genomes]
rs73591406	0.82[AFR][1000 genomes]
rs73591410	0.87[AFR][1000 genomes]
rs73591415	0.89[AFR][1000 genomes]
rs73591419	0.92[AFR][1000 genomes]
rs73591424	0.92[AFR][1000 genomes]
rs73591440	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591450	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73591453	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73591454	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73591483	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs73591486	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73591491	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73591498	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73593205	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73593211	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73593219	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73593240	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73593254	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73593256	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73593257	0.84[EUR][1000 genomes]
rs73593260	0.80[EUR][1000 genomes]
rs8050837	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs8053704	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8056380	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8057418	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8057629	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8060652	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8061937	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv2753761	chr16:82182011-82187267	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 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	chr16:82157000-82191200	Weak transcription	Fetal Brain Male	brain
2	chr16:82168000-82195400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:82168400-82195600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr16:82168600-82191000	Weak transcription	HSMMtube	muscle
5	chr16:82168600-82195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr16:82170800-82195800	Weak transcription	Colon Smooth Muscle	Colon
7	chr16:82171200-82193400	Weak transcription	Ovary	ovary
8	chr16:82172800-82199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:82173400-82203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:82177000-82195200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr16:82177600-82194000	Weak transcription	Hela-S3	cervix
12	chr16:82179000-82187400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr16:82179200-82188000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:82179200-82196000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr16:82179400-82190000	Strong transcription	HMEC	breast
16	chr16:82179600-82188600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:82179800-82196200	Weak transcription	Fetal Heart	heart
18	chr16:82180400-82188000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr16:82180400-82189800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr16:82180600-82188000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr16:82180800-82195600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr16:82181000-82194000	Weak transcription	Pancreas	Pancrea
23	chr16:82181200-82193400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:82181200-82193600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:82181200-82194000	Weak transcription	Aorta	Aorta
26	chr16:82181200-82194000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr16:82181200-82194000	Weak transcription	Gastric	stomach
28	chr16:82181200-82194200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr16:82181200-82195800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:82181200-82196600	Weak transcription	Small Intestine	intestine
31	chr16:82181400-82187400	Weak transcription	Fetal Kidney	kidney
32	chr16:82181600-82194000	Weak transcription	Right Ventricle	heart
33	chr16:82181600-82194600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr16:82181600-82195400	Weak transcription	GM12878-XiMat	blood
35	chr16:82181800-82187800	Weak transcription	Fetal Lung	lung
36	chr16:82181800-82193400	Weak transcription	Colonic Mucosa	Colon
37	chr16:82181800-82194200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr16:82182200-82187400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr16:82182200-82193400	Weak transcription	Fetal Thymus	thymus
40	chr16:82182400-82190800	Weak transcription	NHDF-Ad	bronchial
41	chr16:82182400-82191000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr16:82182800-82189400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr16:82183000-82188600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:82183000-82193400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr16:82183000-82193400	Weak transcription	Fetal Muscle Leg	muscle
46	chr16:82183000-82193400	Weak transcription	Spleen	Spleen
47	chr16:82183000-82193400	Weak transcription	HUVEC	blood vessel
48	chr16:82183000-82193800	Weak transcription	Brain Hippocampus Middle	brain
49	chr16:82183000-82194000	Weak transcription	Brain Angular Gyrus	brain
50	chr16:82183000-82194000	Weak transcription	Esophagus	oesophagus

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