Variant report

Variant	rs4243222
Chromosome Location	chr16:81946423-81946424
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	chr16:81945729..81948450-chr16:81950678..81953539,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11646679	0.90[ASN][1000 genomes]
rs12444459	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12446596	0.93[CHB][hapmap]
rs12596249	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs12716924	0.86[CHB][hapmap]
rs12716926	0.84[CHB][hapmap]
rs12924579	1.00[ASN][1000 genomes]
rs13333420	0.94[CHB][hapmap];0.90[ASN][1000 genomes]
rs16955980	0.88[ASN][1000 genomes]
rs17202296	0.93[CHB][hapmap]
rs34214092	0.80[ASN][1000 genomes]
rs35800368	0.82[ASN][1000 genomes]
rs3813010	0.86[CHB][hapmap]
rs3922849	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs4243223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4306504	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4313806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4366702	0.86[CHB][hapmap]
rs4369658	0.91[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4426346	0.90[ASN][1000 genomes]
rs4450393	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4888188	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4888189	0.87[CHB][hapmap]
rs4889441	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs56258157	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6564938	0.85[CHB][hapmap]
rs67150050	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67522021	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71400184	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7192724	0.93[CHB][hapmap]
rs7193086	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs7201045	0.93[CHB][hapmap]
rs7203619	0.87[CHB][hapmap]
rs8063604	0.93[CHB][hapmap]
rs8063728	0.93[CHB][hapmap]
rs9931137	0.93[CHB][hapmap]
rs9938623	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1065088	chr16:81878481-81953248	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81902800-81955600	Weak transcription	Fetal Kidney	kidney
2	chr16:81908400-81950000	Strong transcription	GM12878-XiMat	blood
3	chr16:81908400-81950200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr16:81909400-81961800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:81920400-81982000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr16:81924400-81961600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr16:81924400-81970000	Weak transcription	Fetal Intestine Large	intestine
8	chr16:81924800-81949200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:81925400-81949200	Weak transcription	Right Ventricle	heart
10	chr16:81925800-81992600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr16:81928000-81953200	Weak transcription	Fetal Thymus	thymus
12	chr16:81930800-81953400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr16:81931000-81949800	Strong transcription	Liver	Liver
14	chr16:81933000-81983600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:81934600-81961200	Weak transcription	Colonic Mucosa	Colon
16	chr16:81934800-81971600	Weak transcription	Right Atrium	heart
17	chr16:81935000-81953000	Weak transcription	Adipose Nuclei	Adipose
18	chr16:81936000-81982000	Weak transcription	Gastric	stomach
19	chr16:81936000-81984600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr16:81936400-81949400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr16:81936800-81949400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:81936800-81951000	Strong transcription	Primary B cells from cord blood	blood
23	chr16:81937000-81969800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr16:81937200-81955000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr16:81941600-81966000	Weak transcription	Placenta	Placenta
26	chr16:81941800-81947000	Weak transcription	Fetal Stomach	stomach
27	chr16:81942000-81948000	Weak transcription	Esophagus	oesophagus
28	chr16:81945000-81984600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr16:81945600-81950800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr16:81946000-81946600	Genic enhancers	Spleen	Spleen
31	chr16:81946000-81949400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr16:81946200-81946600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr16:81946200-81946600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:81946200-81947200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr16:81946200-81948000	Strong transcription	Fetal Intestine Small	intestine
36	chr16:81946200-81948200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr16:81946200-81948600	Strong transcription	Lung	lung
38	chr16:81946200-81949000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr16:81946200-81985200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr16:81946400-81947000	Strong transcription	Pancreas	Pancrea
41	chr16:81946400-81949400	Strong transcription	Primary hematopoietic stem cells	blood

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