Variant report

Variant	rs6884420
Chromosome Location	chr5:14670698-14670699
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	chr5:14670223..14672828-chr5:14683390..14686379,2	K562	blood:
2	chr5:14668622..14671046-chr5:14674810..14676511,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10038397	0.98[EUR][1000 genomes]
rs10065032	1.00[EUR][1000 genomes]
rs10078863	0.91[EUR][1000 genomes]
rs17363158	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17364066	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs250438	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs3045	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58936946	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59980057	0.93[EUR][1000 genomes]
rs60501770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6886163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6892588	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs89356	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs9885040	0.93[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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6884420	FAM105B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14665600-14676600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:14666200-14672200	Weak transcription	Aorta	Aorta
3	chr5:14666400-14671200	Weak transcription	Brain Angular Gyrus	brain
4	chr5:14666400-14672200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:14666400-14673200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:14666400-14673200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:14666400-14674200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr5:14666400-14675600	Weak transcription	Placenta	Placenta
9	chr5:14666400-14678200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:14666400-14681600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:14666400-14688200	Weak transcription	Ovary	ovary
12	chr5:14666600-14671000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:14666600-14672000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:14666600-14672200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:14666600-14688200	Weak transcription	Brain Germinal Matrix	brain
16	chr5:14666800-14671200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:14666800-14671400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:14666800-14671600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:14666800-14671600	Weak transcription	NHDF-Ad	bronchial
20	chr5:14666800-14672000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:14666800-14672000	Weak transcription	HSMM	muscle
22	chr5:14666800-14672200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:14666800-14675600	Weak transcription	NHLF	lung
24	chr5:14666800-14675800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:14667000-14671200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:14667000-14671200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:14667000-14671200	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:14667000-14671600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:14667000-14672200	Weak transcription	Brain Substantia Nigra	brain
30	chr5:14667000-14672400	Weak transcription	Brain Anterior Caudate	brain
31	chr5:14667000-14672400	Weak transcription	HSMMtube	muscle
32	chr5:14667000-14675600	Weak transcription	Thymus	Thymus
33	chr5:14667000-14676600	Weak transcription	Fetal Kidney	kidney
34	chr5:14667000-14680000	Weak transcription	Fetal Brain Female	brain
35	chr5:14667000-14681200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:14667000-14690400	Weak transcription	Fetal Brain Male	brain
37	chr5:14667200-14672000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:14667200-14672600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:14667400-14671000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr5:14667400-14671000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:14667400-14671000	Weak transcription	HUVEC	blood vessel
42	chr5:14667400-14676600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr5:14668200-14672200	Weak transcription	Gastric	stomach
44	chr5:14668200-14672200	Weak transcription	Lung	lung
45	chr5:14668200-14672200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:14668200-14672600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr5:14668200-14674200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:14668400-14671000	Weak transcription	Colon Smooth Muscle	Colon
49	chr5:14668400-14671200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:14668400-14671200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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