Variant report

Variant	rs2227748
Chromosome Location	chr5:76012923-76012924
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:76011809-76012996	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr5:76011671-76013008	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr5:76012507-76013085	A549	lung:	n/a	n/a
4	TAF1	chr5:76011391-76013083	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr5:76012585-76012979	K562	blood:	n/a	n/a
6	MAX	chr5:76012621-76013059	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr5:76012718-76013020	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:76012590-76013180	K562	blood:	n/a	n/a
9	POLR2A	chr5:76011041-76015191	HUVEC	blood vessel:	n/a	n/a
10	CHD2	chr5:76012429-76013023	GM12878	blood:	n/a	n/a
11	MYC	chr5:76011742-76013297	K562	blood:	n/a	n/a
12	POLR2A	chr5:76010271-76012979	SK-N-MC	brain:	n/a	n/a
13	SIN3AK20	chr5:76011382-76012952	SK-N-SH	brain:	n/a	n/a
14	MAX	chr5:76012698-76013019	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr5:76010586-76012942	H1-hESC	embryonic stem cell:	n/a	n/a
16	MXI1	chr5:76011837-76012956	GM12878	blood:	n/a	n/a
17	POLR2A	chr5:76012598-76012981	K562	blood:	n/a	n/a
18	MAX	chr5:76012580-76013043	SK-N-SH	brain:	n/a	n/a
19	MAX	chr5:76012571-76013058	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr5:76012702-76012985	K562	blood:	n/a	n/a
21	RCOR1	chr5:76012760-76012960	K562	blood:	n/a	n/a
22	WRNIP1	chr5:76012706-76013003	GM12878	blood:	n/a	n/a
23	UBTF	chr5:76011513-76012966	K562	blood:	n/a	n/a
24	RAD21	chr5:76011406-76013012	IMR90	lung:	n/a	chr5:76011740-76011753
25	POLR2A	chr5:76010938-76016234	HUVEC	blood vessel:	n/a	n/a
26	JUND	chr5:76012697-76012966	K562	blood:	n/a	n/a
27	CTCF	chr5:76012801-76013105	K562	blood:	n/a	n/a
28	MYC	chr5:76011499-76013329	K562	blood:	n/a	n/a
29	ZC3H11A	chr5:76012674-76013027	K562	blood:	n/a	n/a
30	POLR2A	chr5:76011173-76015204	SK-N-SH	brain:	n/a	n/a
31	ZNF384	chr5:76012647-76013491	K562	blood:	n/a	n/a
32	TBP	chr5:76012642-76012997	K562	blood:	n/a	n/a
33	CHD2	chr5:76012477-76012968	K562	blood:	n/a	n/a
34	MAX	chr5:76012693-76012969	H1-hESC	embryonic stem cell:	n/a	n/a
35	IRF1	chr5:76012668-76013360	K562	blood:	n/a	chr5:76013076-76013096
36	CTCF	chr5:76012780-76012930	AG09319	gingival:	n/a	n/a
37	MAX	chr5:76011412-76012954	K562	blood:	n/a	n/a
38	REST	chr5:76011543-76013114	H1-neurons	neurons:	n/a	chr5:76012745-76012755 chr5:76012077-76012090 chr5:76011543-76011556 chr5:76011964-76011971 chr5:76012111-76012124
39	MYC	chr5:76012715-76012954	K562	blood:	n/a	n/a
40	RCOR1	chr5:76011668-76013488	K562	blood:	n/a	n/a
41	MAZ	chr5:76011174-76012978	GM12878	blood:	n/a	n/a
42	MXI1	chr5:76012618-76012992	K562	blood:	n/a	n/a
43	POLR2A	chr5:76011096-76014987	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr5:76011442-76014817	IMR90	lung:	n/a	n/a
45	MAX	chr5:76012633-76012945	K562	blood:	n/a	n/a
46	GTF2F1	chr5:76012805-76012925	K562	blood:	n/a	n/a
47	MAZ	chr5:76012647-76012953	K562	blood:	n/a	n/a
48	POLR2A	chr5:76010859-76015123	HUVEC	blood vessel:	n/a	n/a
49	MAX	chr5:76010924-76013085	A549	lung:	n/a	n/a
50	POLR2A	chr5:76012629-76013001	H1-neurons	neurons:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75997956..76000044-chr5:76012205..76013755,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225407	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2227749	0.94[AFR][1000 genomes]
rs2227782	1.00[AMR][1000 genomes]
rs2227796	1.00[AMR][1000 genomes]
rs58133545	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61370375	0.83[AFR][1000 genomes]
rs61557265	0.83[AFR][1000 genomes]
rs73125568	1.00[AMR][1000 genomes]
rs73125594	1.00[AMR][1000 genomes]
rs73127570	1.00[AMR][1000 genomes]
rs73127593	0.83[AFR][1000 genomes]
rs73127597	0.94[AFR][1000 genomes]
rs73129610	1.00[AMR][1000 genomes]
rs73129621	1.00[AMR][1000 genomes]
rs73129622	1.00[AMR][1000 genomes]
rs73129664	1.00[AMR][1000 genomes]
rs73131635	1.00[AMR][1000 genomes]
rs73131647	1.00[AMR][1000 genomes]
rs7713797	1.00[AMR][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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76010400-76013000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:76010400-76015000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:76010600-76013000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr5:76010600-76013200	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr5:76010600-76014200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:76010800-76013000	Active TSS	Brain Substantia Nigra	brain
7	chr5:76010800-76013200	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr5:76010800-76013600	Active TSS	NHDF-Ad	bronchial
9	chr5:76011000-76013000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr5:76011000-76013000	Active TSS	Ovary	ovary
11	chr5:76011000-76013400	Active TSS	A549	lung
12	chr5:76011000-76013600	Active TSS	NHLF	lung
13	chr5:76011200-76013000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:76011200-76013000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:76011200-76013000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:76011200-76013000	Active TSS	Aorta	Aorta
17	chr5:76011200-76013200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr5:76011200-76013400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:76011200-76013400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:76011200-76013400	Active TSS	K562	blood
21	chr5:76011200-76013600	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr5:76011200-76014400	Active TSS	Fetal Kidney	kidney
23	chr5:76011400-76013000	Active TSS	Small Intestine	intestine
24	chr5:76011400-76013200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr5:76011400-76013600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:76011600-76013000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:76011600-76013000	Active TSS	Fetal Lung	lung
28	chr5:76011600-76013000	Active TSS	Lung	lung
29	chr5:76011600-76013000	Active TSS	Rectal Smooth Muscle	rectum
30	chr5:76011600-76013000	Active TSS	HSMM	muscle
31	chr5:76011600-76013200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:76011600-76013200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:76011600-76013200	Active TSS	NH-A	brain
34	chr5:76011600-76013400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr5:76011600-76013400	Active TSS	HUVEC	blood vessel
36	chr5:76011600-76013400	Active TSS	Osteobl	bone
37	chr5:76011600-76013600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:76011600-76013600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
39	chr5:76011600-76013800	Active TSS	HSMMtube	muscle
40	chr5:76011600-76014200	Active TSS	Fetal Brain Female	brain
41	chr5:76011800-76013000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:76011800-76013000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:76011800-76013000	Active TSS	Fetal Intestine Small	intestine
44	chr5:76011800-76013200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:76011800-76014200	Active TSS	Fetal Intestine Large	intestine
46	chr5:76012000-76013000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
47	chr5:76012000-76013000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:76012000-76013000	Active TSS	Spleen	Spleen
49	chr5:76012200-76013000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
50	chr5:76012200-76013000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--

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