Variant report

Variant	rs317852
Chromosome Location	chr4:16165651-16165652
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16164227..16166422-chr4:16226469..16228031,2	K562	blood:

Variant related genes	Relation type
ENSG00000169762	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1373109	0.81[AFR][1000 genomes]
rs1621739	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1625980	0.86[ASN][1000 genomes]
rs1662651	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1662653	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893097	0.83[ASN][1000 genomes]
rs16893153	0.83[ASN][1000 genomes]
rs2011754	0.89[AFR][1000 genomes]
rs28395234	0.96[ASN][1000 genomes]
rs28427433	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496446	0.81[AFR][1000 genomes]
rs28619251	0.96[ASN][1000 genomes]
rs28726676	0.84[AFR][1000 genomes]
rs317861	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs317864	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35777961	0.87[EUR][1000 genomes]
rs4501221	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635814	0.83[ASN][1000 genomes]
rs56106162	0.83[ASN][1000 genomes]
rs73234637	0.90[ASN][1000 genomes]
rs7359	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73798875	0.81[AFR][1000 genomes]
rs7668729	0.90[ASN][1000 genomes]
rs9946	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr4:16150800-16166600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:16157200-16166800	Weak transcription	Brain Angular Gyrus	brain
3	chr4:16157800-16170600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:16157800-16180000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:16157800-16180400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:16158000-16175400	Weak transcription	NHDF-Ad	bronchial
7	chr4:16159800-16167400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:16160000-16167600	Weak transcription	HepG2	liver
9	chr4:16160200-16173800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:16160400-16166200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:16160400-16167800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:16160400-16182400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:16160600-16167800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:16160600-16172200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:16160800-16176800	Strong transcription	Primary B cells from cord blood	blood
16	chr4:16161000-16182600	Strong transcription	Fetal Thymus	thymus
17	chr4:16161600-16176200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:16161600-16181800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:16161600-16182600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr4:16161600-16182800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:16161600-16186000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr4:16161800-16170000	Strong transcription	Adipose Nuclei	Adipose
23	chr4:16161800-16193200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr4:16162000-16165800	Weak transcription	Small Intestine	intestine
25	chr4:16162000-16166000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:16162000-16167200	Weak transcription	Osteobl	bone
27	chr4:16162000-16167400	Weak transcription	Psoas Muscle	Psoas
28	chr4:16162000-16175800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:16162200-16167800	Weak transcription	Fetal Brain Male	brain
30	chr4:16162200-16171200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:16162200-16182800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr4:16162400-16167200	Weak transcription	Fetal Kidney	kidney
33	chr4:16162400-16167600	Weak transcription	NHLF	lung
34	chr4:16162600-16166800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:16162600-16183200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr4:16163000-16171800	Strong transcription	Left Ventricle	heart
37	chr4:16163000-16172800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:16163000-16175600	Strong transcription	Primary T cells from cord blood	blood
39	chr4:16163000-16176400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:16163000-16182800	Strong transcription	Liver	Liver
41	chr4:16163000-16183200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:16163000-16183200	Strong transcription	Placenta	Placenta
43	chr4:16163200-16178200	Weak transcription	Fetal Heart	heart
44	chr4:16163200-16183400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr4:16163200-16183400	Weak transcription	Hela-S3	cervix
46	chr4:16163200-16195800	Weak transcription	HMEC	breast
47	chr4:16163400-16167600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:16163400-16168800	Strong transcription	Colon Smooth Muscle	Colon
49	chr4:16163400-16176000	Strong transcription	Dnd41	blood
50	chr4:16163600-16168400	Strong transcription	Brain Inferior Temporal Lobe	brain

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