Variant report

Variant	rs31922
Chromosome Location	chr5:14668915-14668916
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr5:14668161-14669021	GM12878	blood:	n/a	n/a
2	RUNX3	chr5:14667737-14668927	GM12878	blood:	n/a	n/a
3	RELA	chr5:14668108-14668985	GM18505	blood:	n/a	n/a
4	MTA3	chr5:14667860-14668942	GM12878	blood:	n/a	n/a
5	EBF1	chr5:14668363-14669084	GM12878	blood:	n/a	n/a
6	BCLAF1	chr5:14668327-14669024	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14663431..14670152-chr5:14672054..14680588,17	K562	blood:
2	chr5:14664510..14666859-chr5:14666995..14670129,4	MCF-7	breast:
3	chr5:14668622..14671046-chr5:14674810..14676511,2	K562	blood:
4	chr5:14667600..14670326-chr5:14676712..14678274,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261360	TF binding region
ENSG00000154124	Chromatin interaction
ENSG00000261360	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs13189930	0.87[JPT][hapmap];0.87[EUR][1000 genomes]
rs149493	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs149617	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs152788	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs153829	0.93[JPT][hapmap]
rs153830	0.93[JPT][hapmap]
rs1875513	0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[ASN][1000 genomes]
rs2455402	0.92[JPT][hapmap]
rs250439	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs250440	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs258290	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs258374	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs25942	0.83[AMR][1000 genomes]
rs25943	0.86[YRI][hapmap];0.83[AMR][1000 genomes]
rs25945	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs25951	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs25952	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs25983	0.83[CEU][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap];0.87[EUR][1000 genomes]
rs25986	0.93[JPT][hapmap]
rs25987	0.93[JPT][hapmap]
rs25988	0.93[JPT][hapmap]
rs25992	0.93[JPT][hapmap]
rs26307	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs27356	0.87[CEU][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes]
rs27882	0.82[ASN][1000 genomes]
rs27911	0.93[JPT][hapmap]
rs28004	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs31919	0.83[ASN][1000 genomes]
rs31920	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs31921	0.84[ASN][1000 genomes]
rs31923	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs31925	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs31926	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs31928	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs31929	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs31930	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs31968	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3853119	0.88[ASN][1000 genomes]
rs3866215	0.82[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs40578	0.83[ASN][1000 genomes]
rs42358	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs42410	0.82[ASN][1000 genomes]
rs42681	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs456180	1.00[JPT][hapmap]
rs466880	0.93[JPT][hapmap]
rs4702043	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6554856	0.93[JPT][hapmap]
rs6872954	0.94[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs745328	0.93[JPT][hapmap]
rs95492	0.87[JPT][hapmap]

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
rs31922	FAM105B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 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	chr5:14666200-14669000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr5:14666200-14672200	Weak transcription	Aorta	Aorta
4	chr5:14666400-14669200	Enhancers	Fetal Intestine Large	intestine
5	chr5:14666400-14669800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:14666400-14671200	Weak transcription	Brain Angular Gyrus	brain
7	chr5:14666400-14672200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:14666400-14673200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:14666400-14673200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:14666400-14674200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:14666400-14675600	Weak transcription	Placenta	Placenta
12	chr5:14666400-14678200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:14666400-14681600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:14666400-14688200	Weak transcription	Ovary	ovary
15	chr5:14666600-14669600	Weak transcription	NH-A	brain
16	chr5:14666600-14671000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:14666600-14672000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:14666600-14672200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:14666600-14688200	Weak transcription	Brain Germinal Matrix	brain
20	chr5:14666800-14669000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:14666800-14669000	Enhancers	Liver	Liver
22	chr5:14666800-14669200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:14666800-14670000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:14666800-14671200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:14666800-14671400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:14666800-14671600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:14666800-14671600	Weak transcription	NHDF-Ad	bronchial
28	chr5:14666800-14672000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:14666800-14672000	Weak transcription	HSMM	muscle
30	chr5:14666800-14672200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:14666800-14675600	Weak transcription	NHLF	lung
32	chr5:14666800-14675800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:14667000-14670000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:14667000-14670600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:14667000-14671200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:14667000-14671200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:14667000-14671200	Weak transcription	Brain Hippocampus Middle	brain
38	chr5:14667000-14671600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr5:14667000-14672200	Weak transcription	Brain Substantia Nigra	brain
40	chr5:14667000-14672400	Weak transcription	Brain Anterior Caudate	brain
41	chr5:14667000-14672400	Weak transcription	HSMMtube	muscle
42	chr5:14667000-14675600	Weak transcription	Thymus	Thymus
43	chr5:14667000-14676600	Weak transcription	Fetal Kidney	kidney
44	chr5:14667000-14680000	Weak transcription	Fetal Brain Female	brain
45	chr5:14667000-14681200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:14667000-14690400	Weak transcription	Fetal Brain Male	brain
47	chr5:14667200-14669000	Genic enhancers	Primary T cells from cord blood	blood
48	chr5:14667200-14670600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr5:14667200-14672000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:14667200-14672600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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