Variant report

Variant	rs4888206
Chromosome Location	chr16:82180738-82180739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82170213..82174323-chr16:82178396..82183619,5	MCF-7	breast:
2	chr16:82177951..82181955-chr16:82182501..82188169,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261235	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10514531	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10514533	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1056629	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1056654	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1056690	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11150442	0.81[AMR][1000 genomes]
rs11150443	1.00[EUR][1000 genomes]
rs11150444	1.00[EUR][1000 genomes]
rs11150445	1.00[EUR][1000 genomes]
rs11641082	0.94[EUR][1000 genomes]
rs11641178	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11642247	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11642251	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11642280	0.88[EUR][1000 genomes]
rs11642453	0.85[EUR][1000 genomes]
rs11643324	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11643724	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11644183	1.00[EUR][1000 genomes]
rs11645604	0.99[ASN][1000 genomes]
rs11645618	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11645924	0.94[ASN][1000 genomes]
rs11646480	0.94[EUR][1000 genomes]
rs11647519	1.00[EUR][1000 genomes]
rs11647563	0.94[EUR][1000 genomes]
rs11647691	0.94[EUR][1000 genomes]
rs11647928	1.00[EUR][1000 genomes]
rs11649427	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12444846	1.00[EUR][1000 genomes]
rs12445764	0.94[EUR][1000 genomes]
rs12446030	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12446104	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12447225	0.94[EUR][1000 genomes]
rs12447597	0.94[EUR][1000 genomes]
rs12447673	0.94[EUR][1000 genomes]
rs12447876	0.94[EUR][1000 genomes]
rs12447913	0.94[EUR][1000 genomes]
rs12448665	1.00[EUR][1000 genomes]
rs12448672	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12448785	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13330853	0.91[EUR][1000 genomes]
rs13333365	0.99[EUR][1000 genomes]
rs16956483	1.00[EUR][1000 genomes]
rs16956524	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956527	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956533	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956547	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16956550	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956555	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16956556	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16956565	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16956572	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16956576	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17804513	1.00[EUR][1000 genomes]
rs17804602	1.00[EUR][1000 genomes]
rs2081256	1.00[EUR][1000 genomes]
rs2081257	0.99[EUR][1000 genomes]
rs2081258	1.00[EUR][1000 genomes]
rs2098749	0.99[EUR][1000 genomes]
rs2098750	0.99[EUR][1000 genomes]
rs2303268	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911428	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35328670	0.99[EUR][1000 genomes]
rs3751863	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3751865	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794704	0.94[ASN][1000 genomes]
rs3794705	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3829542	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3829552	0.81[EUR][1000 genomes]
rs4243231	0.80[AMR][1000 genomes]
rs4530129	1.00[EUR][1000 genomes]
rs4888207	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889463	0.94[EUR][1000 genomes]
rs4889465	0.87[EUR][1000 genomes]
rs4889468	0.99[EUR][1000 genomes]
rs4889475	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889478	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4889480	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61366082	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6420432	0.81[AMR][1000 genomes]
rs7186965	0.99[EUR][1000 genomes]
rs7193586	0.99[EUR][1000 genomes]
rs7195778	0.81[AMR][1000 genomes]
rs7202019	0.94[ASN][1000 genomes]
rs72487977	0.94[EUR][1000 genomes]
rs7404586	0.90[EUR][1000 genomes]
rs8047139	0.82[AMR][1000 genomes]
rs9922715	0.99[EUR][1000 genomes]
rs9923196	0.81[AMR][1000 genomes]
rs9933079	0.81[AMR][1000 genomes]
rs9937667	0.99[EUR][1000 genomes]
rs9939292	0.81[AMR][1000 genomes]
rs9940821	0.99[EUR][1000 genomes]
rs9940865	0.99[EUR][1000 genomes]
rs9941179	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv457580	chr16:82165183-82182104	Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv573369	chr16:82165183-82182104	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv573370	chr16:82165183-82185320	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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

No data

Chromatin state (count:123 , 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	chr16:82168000-82181000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr16:82168000-82195400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:82168400-82180800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr16:82168400-82195600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr16:82168600-82191000	Weak transcription	HSMMtube	muscle
7	chr16:82168600-82195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr16:82168800-82180800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr16:82168800-82182000	Weak transcription	NH-A	brain
10	chr16:82170000-82180800	Weak transcription	Fetal Lung	lung
11	chr16:82170800-82195800	Weak transcription	Colon Smooth Muscle	Colon
12	chr16:82171000-82180800	Weak transcription	Right Ventricle	heart
13	chr16:82171200-82185800	Weak transcription	Fetal Intestine Small	intestine
14	chr16:82171200-82193400	Weak transcription	Ovary	ovary
15	chr16:82172800-82199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr16:82173200-82182400	Weak transcription	Fetal Intestine Large	intestine
17	chr16:82173400-82180800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:82173400-82185400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr16:82173400-82203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:82177000-82195200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr16:82177600-82194000	Weak transcription	Hela-S3	cervix
22	chr16:82178200-82180800	Weak transcription	Pancreas	Pancrea
23	chr16:82179000-82184200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:82179000-82184600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr16:82179000-82184800	Strong transcription	Dnd41	blood
26	chr16:82179000-82185400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:82179000-82186000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr16:82179000-82186400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr16:82179000-82187400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr16:82179200-82180800	Weak transcription	Psoas Muscle	Psoas
31	chr16:82179200-82182400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr16:82179200-82182800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr16:82179200-82182800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:82179200-82183000	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr16:82179200-82183200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:82179200-82183400	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr16:82179200-82183400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr16:82179200-82183600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr16:82179200-82183600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr16:82179200-82183600	Strong transcription	Fetal Stomach	stomach
41	chr16:82179200-82184600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr16:82179200-82184800	Strong transcription	HSMM	muscle
43	chr16:82179200-82185200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr16:82179200-82188000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr16:82179200-82196000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr16:82179400-82181200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:82179400-82181200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:82179400-82181800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr16:82179400-82183000	Strong transcription	Fetal Brain Female	brain
50	chr16:82179400-82183000	Strong transcription	Fetal Muscle Leg	muscle

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