Variant report

Variant	rs879169
Chromosome Location	chr4:152912533-152912534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152907261..152909132-chr4:152911370..152913593,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13129634	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1364870	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1425398	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs173405	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28429024	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs360904	0.82[ASN][1000 genomes]
rs360905	0.82[ASN][1000 genomes]
rs360925	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs360928	0.81[ASN][1000 genomes]
rs360934	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs360935	0.94[ASN][1000 genomes]
rs360943	0.82[ASN][1000 genomes]
rs360944	0.82[ASN][1000 genomes]
rs360945	0.82[ASN][1000 genomes]
rs360946	0.82[ASN][1000 genomes]
rs360951	0.82[ASN][1000 genomes]
rs360952	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs361146	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs566370	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs578738	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6844372	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6845076	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9991939	0.89[AMR][1000 genomes];1.00[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	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152904800-152913400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:152906000-152912600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:152906000-152913600	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:152909000-152913200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:152910000-152915200	Enhancers	Fetal Brain Male	brain
6	chr4:152910000-152915800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:152910200-152915200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr4:152910400-152912600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:152910400-152914000	Enhancers	NHEK	skin
10	chr4:152910400-152915600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr4:152910400-152915800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:152910400-152915800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr4:152910600-152914200	Enhancers	HMEC	breast
14	chr4:152910600-152914400	Enhancers	HSMMtube	muscle
15	chr4:152910600-152915600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr4:152910600-152916000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr4:152910800-152914800	Weak transcription	Spleen	Spleen
18	chr4:152911000-152915600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr4:152911200-152914600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr4:152911400-152912600	Enhancers	Primary T cells from cord blood	blood
21	chr4:152911400-152912600	Enhancers	Stomach Smooth Muscle	stomach
22	chr4:152911400-152913000	Weak transcription	Brain Angular Gyrus	brain
23	chr4:152911400-152914000	Enhancers	Rectal Smooth Muscle	rectum
24	chr4:152911400-152915800	Enhancers	Dnd41	blood
25	chr4:152911600-152915400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:152911800-152912800	Enhancers	Thymus	Thymus
27	chr4:152911800-152913200	Enhancers	Colon Smooth Muscle	Colon
28	chr4:152911800-152913600	Enhancers	Fetal Thymus	thymus
29	chr4:152911800-152914200	Enhancers	Fetal Heart	heart
30	chr4:152912000-152913200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr4:152912000-152913600	Weak transcription	Aorta	Aorta
32	chr4:152912000-152914600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:152912200-152912600	Active TSS	Primary T cells fromperipheralblood	blood
34	chr4:152912200-152912800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:152912200-152913400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:152912200-152913600	Weak transcription	HSMM	muscle
37	chr4:152912200-152913800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:152912200-152914600	Enhancers	Fetal Brain Female	brain
39	chr4:152912400-152912800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr4:152912400-152913400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:152912400-152913600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr4:152912400-152913800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:152912400-152914400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:152912400-152914800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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