Variant report

Variant	rs12933007
Chromosome Location	chr16:71807810-71807811
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	chr16:71790780..71793408-chr16:71805214..71808324,3	K562	blood:

Variant related genes	Relation type
ENSG00000223224	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11075903	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11640830	0.85[ASN][1000 genomes]
rs11641113	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11642526	0.92[ASN][1000 genomes]
rs11642529	1.00[ASN][1000 genomes]
rs11645704	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645725	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11648483	0.85[ASN][1000 genomes]
rs11861296	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149460	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12445161	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12447094	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12448022	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12919271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12928939	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12935106	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34053338	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34358623	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34531032	0.83[ASN][1000 genomes]
rs34731378	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34998650	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35706035	0.89[ASN][1000 genomes]
rs71386932	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7202840	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049163	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8051878	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8057568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a
5	esv1815957	chr16:71790812-71816899	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71762200-71811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:71763200-71812600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr16:71763600-71812400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr16:71764000-71813000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr16:71770800-71810600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:71770800-71813800	Strong transcription	Liver	Liver
7	chr16:71771000-71812200	Strong transcription	Placenta	Placenta
8	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:71780000-71821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:71783800-71820600	Weak transcription	Psoas Muscle	Psoas
11	chr16:71784000-71811200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:71785400-71808800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr16:71786600-71809800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr16:71792800-71809600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr16:71792800-71811000	Weak transcription	Small Intestine	intestine
16	chr16:71793200-71808800	Strong transcription	Fetal Intestine Large	intestine
17	chr16:71793200-71830400	Weak transcription	Fetal Heart	heart
18	chr16:71794000-71808600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr16:71797000-71823600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:71797200-71811200	Weak transcription	Pancreas	Pancrea
21	chr16:71797400-71812800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:71798400-71822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr16:71799000-71810200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr16:71800400-71810600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr16:71801000-71815600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:71801200-71809400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr16:71801400-71808400	Strong transcription	Fetal Stomach	stomach
28	chr16:71801400-71814800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:71801600-71811200	Weak transcription	NHEK	skin
30	chr16:71801800-71808600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:71801800-71811400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr16:71802000-71808400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:71802000-71821400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr16:71802800-71810200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr16:71803000-71808400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr16:71803000-71808600	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr16:71803000-71808600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr16:71803000-71808600	Strong transcription	Primary B cells from cord blood	blood
39	chr16:71803000-71808600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr16:71803000-71808600	Strong transcription	Adipose Nuclei	Adipose
41	chr16:71803000-71808800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr16:71803000-71808800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr16:71803000-71808800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr16:71803000-71808800	Strong transcription	Fetal Thymus	thymus
45	chr16:71803000-71808800	Strong transcription	Dnd41	blood
46	chr16:71803000-71808800	Strong transcription	HepG2	liver
47	chr16:71803000-71809800	Strong transcription	GM12878-XiMat	blood
48	chr16:71803000-71810400	Strong transcription	HSMM	muscle
49	chr16:71803000-71812200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr16:71803000-71812400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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