Variant report

Variant	rs73838813
Chromosome Location	chr4:110486519-110486520
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	chr4:110481760..110483449-chr4:110486320..110487962,2	K562	blood:
2	chr4:110480690..110482894-chr4:110485123..110487105,2	K562	blood:

Variant related genes	Relation type
ENSG00000005059	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11932581	1.00[EUR][1000 genomes]
rs11932667	1.00[EUR][1000 genomes]
rs11932771	1.00[EUR][1000 genomes]
rs11933064	1.00[EUR][1000 genomes]
rs11940005	1.00[EUR][1000 genomes]
rs11940194	1.00[EUR][1000 genomes]
rs11941754	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11945014	1.00[EUR][1000 genomes]
rs11945496	1.00[EUR][1000 genomes]
rs11946917	1.00[EUR][1000 genomes]
rs11946981	1.00[EUR][1000 genomes]
rs17040364	1.00[EUR][1000 genomes]
rs17040369	1.00[EUR][1000 genomes]
rs17040375	1.00[EUR][1000 genomes]
rs17040384	1.00[EUR][1000 genomes]
rs28528383	1.00[EUR][1000 genomes]
rs28642881	1.00[EUR][1000 genomes]
rs55762783	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61006726	1.00[EUR][1000 genomes]
rs61459557	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61488031	1.00[EUR][1000 genomes]
rs73838812	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73838815	1.00[EUR][1000 genomes]
rs73838816	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73838817	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73838818	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7678204	1.00[EUR][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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110482800-110494400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:110482800-110495400	Weak transcription	Stomach Mucosa	stomach
3	chr4:110483000-110498200	Weak transcription	HMEC	breast
4	chr4:110483200-110494400	Weak transcription	NHLF	lung
5	chr4:110483400-110487000	Weak transcription	NHDF-Ad	bronchial
6	chr4:110483400-110490000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:110483400-110494000	Weak transcription	HSMM	muscle
8	chr4:110484000-110486800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:110484000-110492400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:110484000-110496000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:110484200-110493600	Weak transcription	NHEK	skin
12	chr4:110484200-110495800	Weak transcription	Fetal Thymus	thymus
13	chr4:110484200-110509400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:110484400-110487800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:110484400-110492600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:110484400-110495400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:110484400-110495800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:110484400-110497200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:110484400-110509400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:110484400-110509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:110484400-110509400	Weak transcription	Thymus	Thymus
22	chr4:110484600-110490200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr4:110484800-110491000	Weak transcription	GM12878-XiMat	blood
24	chr4:110484800-110495600	Weak transcription	Dnd41	blood
25	chr4:110485000-110495400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:110485400-110486800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:110485600-110490000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr4:110485800-110487000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr4:110486000-110486600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:110486000-110487000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr4:110486000-110493800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr4:110486200-110486800	Strong transcription	Primary B cells from cord blood	blood
33	chr4:110486200-110486800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr4:110486200-110489600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:110486400-110486600	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr4:110486400-110487000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr4:110486400-110487400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr4:110486400-110488200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood

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