Variant report

Variant	rs12920588
Chromosome Location	chr16:70807815-70807816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70802936..70806870-chr16:70807809..70811043,3	K562	blood:
2	chr16:70678797..70681152-chr16:70806007..70808963,2	K562	blood:
3	chr16:70711095..70714383-chr16:70803996..70807940,3	K562	blood:
4	chr16:70805903..70808053-chr16:70834354..70836069,2	K562	blood:
5	chr16:70734375..70737351-chr16:70807793..70809854,2	K562	blood:
6	chr16:70803133..70806870-chr16:70807809..70811183,4	K562	blood:
7	chr16:70806021..70808170-chr16:70819954..70821551,2	K562	blood:

Variant related genes	Relation type
ENSG00000103043	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000157368	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1009285	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11863319	0.85[ASN][1000 genomes]
rs11864614	0.88[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11866379	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12924064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12926985	0.87[ASN][1000 genomes]
rs12928270	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12929374	0.84[ASN][1000 genomes]
rs12934723	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12935645	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13335758	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1551528	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1551529	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16970484	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16970513	0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17248914	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs28676580	0.93[ASN][1000 genomes]
rs34268521	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35144432	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35426120	0.85[ASN][1000 genomes]
rs35665975	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3855651	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4985364	0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4985425	0.93[ASN][1000 genomes]
rs52826576	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60190856	0.89[ASN][1000 genomes]
rs6416703	0.83[EUR][1000 genomes]
rs6499336	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs713511	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71384769	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71401831	0.92[ASN][1000 genomes]
rs7185921	0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7188712	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7194091	0.82[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs7196225	0.87[ASN][1000 genomes]
rs7202363	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs74024449	0.85[ASN][1000 genomes]
rs8044133	0.87[ASN][1000 genomes]
rs8052615	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8060947	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9931380	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 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	chr16:70772600-70813400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:70773000-70815800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:70773400-70816200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr16:70781200-70826800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:70781800-70815000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr16:70785000-70814200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:70785000-70814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:70785000-70825000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr16:70785600-70813000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr16:70785800-70828000	Strong transcription	Primary T cells from cord blood	blood
11	chr16:70786600-70815200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr16:70786800-70815000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr16:70788000-70826600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr16:70789600-70810400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr16:70794600-70814200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:70794600-70816400	Weak transcription	Small Intestine	intestine
17	chr16:70795600-70808000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr16:70795600-70809200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr16:70795800-70814400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr16:70797000-70811200	Weak transcription	Right Ventricle	heart
21	chr16:70797000-70813000	Weak transcription	Fetal Kidney	kidney
22	chr16:70797800-70810200	Strong transcription	Fetal Intestine Large	intestine
23	chr16:70797800-70811400	Weak transcription	Left Ventricle	heart
24	chr16:70799200-70824000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr16:70799400-70809400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:70799800-70811200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr16:70800400-70809400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr16:70802000-70808600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr16:70802400-70808400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr16:70802400-70814400	Weak transcription	Stomach Mucosa	stomach
31	chr16:70802400-70825000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr16:70802800-70810200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr16:70803000-70808400	Strong transcription	Dnd41	blood
34	chr16:70803200-70808000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr16:70803200-70808400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:70804200-70808400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr16:70804400-70810000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr16:70804600-70808400	Strong transcription	Brain Hippocampus Middle	brain
39	chr16:70804600-70808600	Strong transcription	Fetal Brain Female	brain
40	chr16:70804800-70809000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:70804800-70809800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:70804800-70811200	Weak transcription	Fetal Lung	lung
43	chr16:70804800-70813600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr16:70805000-70814200	Weak transcription	Colonic Mucosa	Colon
45	chr16:70805000-70815400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr16:70805200-70808200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:70805200-70808200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr16:70805200-70808400	Strong transcription	Placenta	Placenta
49	chr16:70805200-70808400	Strong transcription	Spleen	Spleen
50	chr16:70805200-70809600	Strong transcription	Fetal Stomach	stomach

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