Variant report

Variant	rs27134
Chromosome Location	chr5:76011216-76011217
allele	A/G
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	BACH1	chr5:76011198-76012110	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZEB1	chr5:76011042-76011312	GM12878	blood:	n/a	n/a
3	SPI1	chr5:76011095-76011584	GM12878	blood:	n/a	chr5:76011203-76011216 chr5:76011444-76011457
4	MAX	chr5:76011027-76012490	A549	lung:	n/a	n/a
5	POLR2A	chr5:76011041-76015191	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr5:76010271-76012979	SK-N-MC	brain:	n/a	n/a
7	CTBP2	chr5:76010586-76012942	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr5:76011110-76012428	GM12878	blood:	n/a	n/a
9	HMGN3	chr5:76011096-76012362	K562	blood:	n/a	n/a
10	ZNF143	chr5:76011211-76012092	GM12878	blood:	n/a	n/a
11	MAX	chr5:76010941-76012440	HepG2	liver:	n/a	n/a
12	MAX	chr5:76010977-76012620	SK-N-SH	brain:	n/a	n/a
13	ELF1	chr5:76010570-76011346	GM12878	blood:	n/a	n/a
14	CTCF	chr5:76011140-76011290	HCPEpiC	choroid plexus:	n/a	chr5:76011189-76011202
15	POLR2A	chr5:76010938-76016234	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr5:76011173-76015204	SK-N-SH	brain:	n/a	n/a
17	MAX	chr5:76010769-76011382	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZBTB7A	chr5:76011114-76012150	K562	blood:	n/a	chr5:76011843-76011852 chr5:76011758-76011766
19	CTCF	chr5:76011180-76011330	GM06990	blood:	n/a	chr5:76011189-76011202
20	TCF12	chr5:76011143-76012714	A549	lung:	n/a	chr5:76011540-76011550
21	CTCF	chr5:76011162-76012407	A549	lung:	n/a	chr5:76011189-76011202
22	SPI1	chr5:76011137-76011670	HL-60	blood:	n/a	chr5:76011203-76011216 chr5:76011444-76011457
23	MAZ	chr5:76010911-76012665	IMR90	lung:	n/a	n/a
24	CTCF	chr5:76010894-76012734	SK-N-SH	brain:	n/a	chr5:76011189-76011202
25	E2F6	chr5:76010765-76012309	H1-hESC	embryonic stem cell:	n/a	chr5:76011155-76011169 chr5:76011201-76011208 chr5:76011197-76011209 chr5:76011201-76011208 chr5:76011195-76011204 chr5:76011201-76011208
26	FOSL2	chr5:76011181-76011998	SK-N-SH	brain:	n/a	chr5:76011669-76011679 chr5:76011669-76011679 chr5:76011191-76011200 chr5:76011666-76011677
27	MAZ	chr5:76011174-76012978	GM12878	blood:	n/a	n/a
28	CCNT2	chr5:76011117-76011292	K562	blood:	n/a	n/a
29	POLR2A	chr5:76011096-76014987	HUVEC	blood vessel:	n/a	n/a
30	MAX	chr5:76011074-76012131	SK-N-SH	brain:	n/a	n/a
31	MAX	chr5:76011067-76011715	HepG2	liver:	n/a	n/a
32	NFIC	chr5:76011032-76012302	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr5:76010859-76015123	HUVEC	blood vessel:	n/a	n/a
34	MAX	chr5:76010924-76013085	A549	lung:	n/a	n/a
35	MAX	chr5:76010722-76012429	H1-hESC	embryonic stem cell:	n/a	n/a
36	E2F6	chr5:76011193-76012987	K562	blood:	n/a	chr5:76011201-76011208 chr5:76012744-76012754 chr5:76011197-76011209 chr5:76011201-76011208 chr5:76011195-76011204 chr5:76011201-76011208
37	NANOG	chr5:76011068-76011308	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAZ	chr5:76011153-76012078	HepG2	liver:	n/a	n/a
39	SMC3	chr5:76010716-76013398	SK-N-SH	brain:	n/a	n/a
40	E2F6	chr5:76010905-76012337	A549	lung:	n/a	chr5:76011155-76011169 chr5:76011201-76011208 chr5:76011197-76011209 chr5:76011201-76011208 chr5:76011195-76011204 chr5:76011201-76011208
41	BHLHE40	chr5:76011162-76011402	GM12878	blood:	n/a	chr5:76011187-76011203
42	E2F6	chr5:76010671-76012368	H1-hESC	embryonic stem cell:	n/a	chr5:76011155-76011169 chr5:76011201-76011208 chr5:76011197-76011209 chr5:76011201-76011208 chr5:76011195-76011204 chr5:76011201-76011208
43	SPI1	chr5:76010987-76011657	GM12878	blood:	n/a	chr5:76011203-76011216 chr5:76011444-76011457
44	POLR2A	chr5:76010957-76015172	HUVEC	blood vessel:	n/a	n/a
45	EP300	chr5:76011120-76012401	SK-N-SH	brain:	n/a	chr5:76011188-76011204 chr5:76011192-76011201 chr5:76011531-76011547 chr5:76011844-76011853 chr5:76012095-76012111

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76008537..76011393-chr5:76015076..76017245,2	K562	blood:

Variant related genes	Relation type
F2R	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10058007	0.88[AFR][1000 genomes]
rs10474484	0.84[AFR][1000 genomes]
rs12517193	0.88[AFR][1000 genomes]
rs2227744	0.88[AFR][1000 genomes]
rs27133	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs27135	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs27593	0.81[ASN][1000 genomes]
rs34921325	0.87[AFR][1000 genomes]
rs37243	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs37245	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs37248	0.88[ASN][1000 genomes]
rs37249	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4703716	0.84[AFR][1000 genomes]
rs9293695	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882207	chr5:75997213-76027823	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882208	chr5:75997213-76034355	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882209	chr5:76004933-76034355	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs27134	F2R	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76010000-76011600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:76010000-76011800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr5:76010200-76011600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:76010400-76011600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
5	chr5:76010400-76011600	Flanking Active TSS	NH-A	brain
6	chr5:76010400-76011800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
7	chr5:76010400-76012400	Flanking Bivalent TSS/Enh	Dnd41	blood
8	chr5:76010400-76013000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr5:76010400-76015000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:76010600-76011400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
11	chr5:76010600-76011600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
12	chr5:76010600-76011600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:76010600-76011600	Bivalent/Poised TSS	Colonic Mucosa	Colon
14	chr5:76010600-76011600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr5:76010600-76011600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
16	chr5:76010600-76011800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
17	chr5:76010600-76011800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
18	chr5:76010600-76011800	Flanking Bivalent TSS/Enh	Thymus	Thymus
19	chr5:76010600-76012600	Bivalent/Poised TSS	HepG2	liver
20	chr5:76010600-76012800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr5:76010600-76013000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr5:76010600-76013200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr5:76010600-76014200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:76010800-76011400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
25	chr5:76010800-76011400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
26	chr5:76010800-76011400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
27	chr5:76010800-76011400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
28	chr5:76010800-76011400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
29	chr5:76010800-76011600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr5:76010800-76011600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
31	chr5:76010800-76011600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:76010800-76011600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
33	chr5:76010800-76011600	Flanking Active TSS	HUVEC	blood vessel
34	chr5:76010800-76011600	Bivalent/Poised TSS	Osteobl	bone
35	chr5:76010800-76011800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr5:76010800-76011800	Flanking Active TSS	Placenta	Placenta
37	chr5:76010800-76012000	Active TSS	Right Atrium	heart
38	chr5:76010800-76012200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr5:76010800-76012200	Active TSS	Brain Anterior Caudate	brain
40	chr5:76010800-76012200	Active TSS	Left Ventricle	heart
41	chr5:76010800-76012800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr5:76010800-76012800	Flanking Active TSS	Liver	Liver
43	chr5:76010800-76013000	Active TSS	Brain Substantia Nigra	brain
44	chr5:76010800-76013200	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr5:76010800-76013600	Active TSS	NHDF-Ad	bronchial
46	chr5:76011000-76011400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:76011000-76011400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
48	chr5:76011000-76011400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:76011000-76011400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
50	chr5:76011000-76011400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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