Variant report

Variant	rs4481314
Chromosome Location	chr5:179673708-179673709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr5:179673653-179673788	GM12878	blood:	n/a	n/a
2	RFX5	chr5:179673693-179673726	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179672853..179674649-chr5:179677666..179679886,2	MCF-7	breast:
2	chr5:179666172..179667726-chr5:179673656..179675626,2	MCF-7	breast:
3	chr5:179669950..179671788-chr5:179672215..179674940,2	MCF-7	breast:

Variant related genes	Relation type
MAPK9	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1127575	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11955223	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17627593	0.86[CHB][hapmap]
rs4362908	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56131100	0.93[ASN][1000 genomes]
rs58528869	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61478999	0.95[ASN][1000 genomes]
rs6601104	0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6703	0.86[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs6860142	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6896513	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs7710896	0.99[ASN][1000 genomes]
rs7724543	0.93[CHB][hapmap];0.85[JPT][hapmap]
rs7726664	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9605	1.00[CHB][hapmap];0.93[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179651600-179678000	Weak transcription	Fetal Heart	heart
2	chr5:179653600-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:179655000-179679600	Weak transcription	Stomach Mucosa	stomach
4	chr5:179655400-179712600	ZNF genes & repeats	Liver	Liver
5	chr5:179655800-179675400	Strong transcription	Primary B cells from cord blood	blood
6	chr5:179656200-179675000	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:179656600-179703000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
8	chr5:179657400-179674400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:179657800-179674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:179657800-179697000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:179658400-179679200	Strong transcription	Primary T cells from cord blood	blood
12	chr5:179658800-179680400	Weak transcription	Fetal Kidney	kidney
13	chr5:179659000-179677600	Strong transcription	Dnd41	blood
14	chr5:179659200-179674200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr5:179659400-179674800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:179659600-179674200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:179660200-179679800	Weak transcription	HUVEC	blood vessel
18	chr5:179660400-179677600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:179660800-179706800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:179661000-179674200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:179661400-179674200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:179661800-179673800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:179664400-179677000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr5:179665800-179696600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:179666000-179697000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr5:179666400-179674600	Strong transcription	A549	lung
27	chr5:179667800-179674200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:179668000-179674200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:179668000-179674400	Weak transcription	Brain Angular Gyrus	brain
30	chr5:179668000-179678400	Weak transcription	Brain Substantia Nigra	brain
31	chr5:179668200-179674400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:179668200-179674400	Weak transcription	NHLF	lung
33	chr5:179668200-179696800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
34	chr5:179669000-179674200	Weak transcription	HepG2	liver
35	chr5:179669400-179674800	Weak transcription	Brain Germinal Matrix	brain
36	chr5:179669400-179675200	Weak transcription	Hela-S3	cervix
37	chr5:179669400-179676000	Weak transcription	Psoas Muscle	Psoas
38	chr5:179669400-179683600	Weak transcription	K562	blood
39	chr5:179669800-179674200	Weak transcription	Osteobl	bone
40	chr5:179669800-179678200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
41	chr5:179670000-179674200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr5:179670200-179681600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:179670200-179712800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:179670400-179676200	Weak transcription	Fetal Brain Male	brain
45	chr5:179670600-179674200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr5:179670600-179674200	Weak transcription	Brain Hippocampus Middle	brain
47	chr5:179670800-179674800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:179671200-179674400	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:179671200-179694000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
50	chr5:179672000-179674600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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