Variant report

Variant	rs6881198
Chromosome Location	chr5:112363603-112363604
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	chr5:112361859..112364300-chr5:112370845..112373439,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12521395	0.90[EUR][1000 genomes]
rs13185006	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17310536	0.89[AMR][1000 genomes]
rs17311019	0.89[AMR][1000 genomes]
rs17311096	0.89[AMR][1000 genomes]
rs17369211	0.89[AMR][1000 genomes]
rs17369487	0.89[AMR][1000 genomes]
rs4235775	1.00[EUR][1000 genomes]
rs4235776	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235780	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235781	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235782	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235783	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235784	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235785	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4260661	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4276396	1.00[EUR][1000 genomes]
rs4295378	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4519915	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4627978	1.00[EUR][1000 genomes]
rs4705534	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705535	0.95[EUR][1000 genomes]
rs4705536	1.00[EUR][1000 genomes]
rs4705757	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705759	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705760	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705761	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705764	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705765	1.00[EUR][1000 genomes]
rs55798475	0.89[AMR][1000 genomes]
rs55901036	0.89[AMR][1000 genomes]
rs55940904	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55997238	0.95[EUR][1000 genomes]
rs56023848	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56265422	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594657	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594658	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594666	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594667	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594668	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6862944	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6872473	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881233	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881426	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6881477	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6882115	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6896675	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6897972	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7706745	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7728495	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs878074	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs878075	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][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	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 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	chr5:112317800-112366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:112318400-112365600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:112319800-112363800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr5:112320000-112364200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:112321200-112364800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:112321400-112363800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:112324800-112369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:112327800-112364600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
10	chr5:112334000-112365200	Strong transcription	Placenta	Placenta
11	chr5:112349800-112366600	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:112352400-112367800	Strong transcription	Liver	Liver
13	chr5:112354600-112365400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:112356200-112365000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:112356200-112365000	Strong transcription	Adipose Nuclei	Adipose
16	chr5:112356400-112365400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:112357600-112364600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:112357800-112364400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:112358000-112364600	Strong transcription	NHDF-Ad	bronchial
20	chr5:112358200-112364200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:112358600-112365400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:112358800-112364200	Strong transcription	NHEK	skin
23	chr5:112358800-112365200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:112358800-112366000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:112359200-112364600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr5:112359600-112364600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:112359600-112365400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:112359600-112365800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:112359600-112367800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:112359800-112364000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr5:112359800-112364000	Strong transcription	HUVEC	blood vessel
32	chr5:112359800-112364000	Strong transcription	K562	blood
33	chr5:112359800-112364800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:112359800-112365400	Strong transcription	Left Ventricle	heart
35	chr5:112359800-112365600	Strong transcription	Fetal Muscle Leg	muscle
36	chr5:112359800-112365800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr5:112360000-112363800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr5:112360000-112365400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:112360000-112379000	Weak transcription	Small Intestine	intestine
40	chr5:112360200-112365400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr5:112360200-112368600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:112360400-112364000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:112360400-112364800	Strong transcription	HMEC	breast
44	chr5:112360400-112367200	Weak transcription	GM12878-XiMat	blood
45	chr5:112360400-112367600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:112360400-112368000	Weak transcription	Primary B cells from cord blood	blood
47	chr5:112360400-112368400	Weak transcription	Stomach Mucosa	stomach
48	chr5:112360600-112364200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr5:112360800-112363800	Strong transcription	Aorta	Aorta
50	chr5:112360800-112364800	Strong transcription	Fetal Intestine Large	intestine

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