Variant report

Variant	rs12445764
Chromosome Location	chr16:82191016-82191017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82189635..82192403-chr16:82201354..82205072,3	K562	blood:
2	chr16:82188527..82191409-chr16:82201354..82203921,2	K562	blood:
3	chr16:82169363..82172355-chr16:82189531..82191592,2	K562	blood:

Variant related genes	Relation type
ENSG00000135698	Chromatin interaction
ENSG00000261029	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10514531	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10514533	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes]
rs1056629	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1056654	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[EUR][1000 genomes]
rs1056690	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[EUR][1000 genomes]
rs11150443	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11150444	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11150445	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11641082	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11641178	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11642247	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11642251	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11642280	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11643324	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11643724	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11644183	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11645604	0.81[CHB][hapmap]
rs11645618	0.89[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs11646480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11647519	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11647563	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11647691	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11647928	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11649427	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs12444846	1.00[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12446030	0.94[EUR][1000 genomes]
rs12446104	0.94[EUR][1000 genomes]
rs12447225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12447597	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12447673	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12447876	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12447913	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12448665	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12448672	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[EUR][1000 genomes]
rs12448785	0.90[EUR][1000 genomes]
rs12597638	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs12599196	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs12931886	0.80[CEU][hapmap];1.00[YRI][hapmap]
rs13330853	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13333365	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16956483	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16956524	0.94[EUR][1000 genomes]
rs16956527	0.94[EUR][1000 genomes]
rs16956533	0.93[EUR][1000 genomes]
rs16956547	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs16956550	0.96[EUR][1000 genomes]
rs16956555	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs16956556	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs16956565	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs16956572	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs16956576	1.00[CEU][hapmap];0.83[CHB][hapmap];0.99[EUR][1000 genomes]
rs17804513	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17804602	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1862821	0.81[CEU][hapmap]
rs2081256	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2081257	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2081258	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2098749	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2098750	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2303268	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2911428	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[EUR][1000 genomes]
rs35328670	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3751863	0.92[EUR][1000 genomes]
rs3751865	0.89[CEU][hapmap];0.81[CHB][hapmap];0.94[EUR][1000 genomes]
rs3794705	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs3829542	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3829552	0.86[EUR][1000 genomes]
rs4243231	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs4530129	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4569272	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs4888206	0.94[EUR][1000 genomes]
rs4888207	0.94[EUR][1000 genomes]
rs4889463	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4889465	0.81[EUR][1000 genomes]
rs4889468	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4889475	0.94[EUR][1000 genomes]
rs4889478	0.94[EUR][1000 genomes]
rs4889480	0.93[EUR][1000 genomes]
rs61366082	0.93[EUR][1000 genomes]
rs7186965	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7187080	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs7193463	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs7193586	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7195778	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs7202019	0.83[CHB][hapmap]
rs72487977	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73591443	0.97[ASN][1000 genomes]
rs7404586	0.85[EUR][1000 genomes]
rs7405214	0.82[EUR][1000 genomes]
rs7498125	0.83[CEU][hapmap]
rs7501253	0.83[CEU][hapmap]
rs8046093	0.81[AFR][1000 genomes]
rs8191243	1.00[YRI][hapmap]
rs8191248	1.00[YRI][hapmap]
rs9922715	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9929117	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs9929380	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs9936872	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs9937667	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9940821	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9940865	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9941179	0.93[EUR][1000 genomes];0.84[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	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	chr16:82157000-82191200	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	chr16:82168600-82195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr16:82170800-82195800	Weak transcription	Colon Smooth Muscle	Colon
6	chr16:82171200-82193400	Weak transcription	Ovary	ovary
7	chr16:82172800-82199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:82173400-82203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:82177000-82195200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr16:82177600-82194000	Weak transcription	Hela-S3	cervix
11	chr16:82179200-82196000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:82179800-82196200	Weak transcription	Fetal Heart	heart
13	chr16:82180800-82195600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr16:82181000-82194000	Weak transcription	Pancreas	Pancrea
15	chr16:82181200-82193400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:82181200-82193600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:82181200-82194000	Weak transcription	Aorta	Aorta
18	chr16:82181200-82194000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr16:82181200-82194000	Weak transcription	Gastric	stomach
20	chr16:82181200-82194200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr16:82181200-82195800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:82181200-82196600	Weak transcription	Small Intestine	intestine
23	chr16:82181600-82194000	Weak transcription	Right Ventricle	heart
24	chr16:82181600-82194600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr16:82181600-82195400	Weak transcription	GM12878-XiMat	blood
26	chr16:82181800-82193400	Weak transcription	Colonic Mucosa	Colon
27	chr16:82181800-82194200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr16:82182200-82193400	Weak transcription	Fetal Thymus	thymus
29	chr16:82183000-82193400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr16:82183000-82193400	Weak transcription	Fetal Muscle Leg	muscle
31	chr16:82183000-82193400	Weak transcription	Spleen	Spleen
32	chr16:82183000-82193400	Weak transcription	HUVEC	blood vessel
33	chr16:82183000-82193800	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:82183000-82194000	Weak transcription	Brain Angular Gyrus	brain
35	chr16:82183000-82194000	Weak transcription	Esophagus	oesophagus
36	chr16:82183000-82194000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr16:82183200-82193200	Weak transcription	Brain Anterior Caudate	brain
38	chr16:82183200-82194000	Weak transcription	Brain Substantia Nigra	brain
39	chr16:82183600-82194000	Weak transcription	Lung	lung
40	chr16:82183800-82193400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr16:82183800-82193400	Weak transcription	Thymus	Thymus
42	chr16:82184200-82194400	Weak transcription	NH-A	brain
43	chr16:82184400-82192600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr16:82184400-82193400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr16:82184400-82194000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr16:82184600-82193000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr16:82185000-82193400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr16:82186000-82199200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr16:82186000-82201600	Strong transcription	Primary T cells from cord blood	blood
50	chr16:82186200-82191600	Strong transcription	Dnd41	blood

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