Variant report

Variant	rs4326070
Chromosome Location	chr4:57977479-57977480
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	MAX	chr4:57976007-57977704	NB4	blood:	n/a	n/a
2	POLR2A	chr4:57977404-57977794	SK-N-MC	brain:	n/a	n/a
3	RAD21	chr4:57975818-57977524	IMR90	lung:	n/a	n/a
4	MAZ	chr4:57975533-57978084	IMR90	lung:	n/a	n/a
5	POLR2A	chr4:57972428-57977904	IMR90	lung:	n/a	n/a
6	CHD1	chr4:57973519-57977830	IMR90	lung:	n/a	n/a
7	TEAD4	chr4:57977276-57977588	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr4:57976652-57977487	U87	brain:	n/a	n/a
9	ZNF263	chr4:57977199-57977614	HEK293-T-REx	kidney:	n/a	n/a
10	POLR2A	chr4:57976115-57977705	U87	brain:	n/a	n/a
11	CTCF	chr4:57977460-57977610	NB4	blood:	n/a	n/a
12	PRDM1	chr4:57977445-57977695	Hela-S3	cervix:	n/a	chr4:57977508-57977523 chr4:57977509-57977523 chr4:57977510-57977523
13	POLR2A	chr4:57975484-57977753	HL-60	blood:	n/a	n/a
14	MYC	chr4:57976020-57977677	NB4	blood:	n/a	n/a
15	CTBP2	chr4:57975585-57977526	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr4:57976014-57977520	NB4	blood:	n/a	n/a
17	POLR2A	chr4:57975736-57977586	HL-60	blood:	n/a	n/a
18	MXI1	chr4:57974888-57977913	IMR90	lung:	n/a	n/a
19	POLR2A	chr4:57976149-57977536	Gliobla	brain:	n/a	n/a
20	REST	chr4:57975591-57977728	HL-60	blood:	n/a	chr4:57976519-57976529 chr4:57977134-57977147 chr4:57977324-57977332 chr4:57976830-57976843
21	POLR2A	chr4:57975797-57977594	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr4:57977477-57977513	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
IGFBP7	TF binding region
ENSG00000238541	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10029224	1.00[AMR][1000 genomes]
rs10029500	1.00[AMR][1000 genomes]
rs4242006	1.00[AMR][1000 genomes]
rs4262036	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4317262	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4346709	1.00[AMR][1000 genomes]
rs4504318	1.00[AMR][1000 genomes]
rs4515224	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4579185	1.00[AMR][1000 genomes]
rs4590105	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4600977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4865184	1.00[AMR][1000 genomes]
rs4865185	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4865186	1.00[AMR][1000 genomes]
rs4865190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6554415	1.00[AMR][1000 genomes]
rs6554416	1.00[AMR][1000 genomes]
rs6554417	1.00[AMR][1000 genomes]
rs6810409	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6832133	1.00[AMR][1000 genomes]
rs6839914	1.00[AMR][1000 genomes]
rs6850578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7666436	1.00[AMR][1000 genomes]
rs9992230	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	esv3324890	chr4:57975020-57977568	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57972400-57977800	Active TSS	Aorta	Aorta
2	chr4:57973200-57977600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:57973200-57977600	Active TSS	Psoas Muscle	Psoas
4	chr4:57973200-57977800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr4:57973400-57977600	Active TSS	Left Ventricle	heart
6	chr4:57973600-57977600	Active TSS	Right Ventricle	heart
7	chr4:57973600-57977800	Active TSS	Ovary	ovary
8	chr4:57973600-57977800	Active TSS	Right Atrium	heart
9	chr4:57974200-57977800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:57974400-57977600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:57975000-57977600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:57975000-57977800	Active TSS	Brain Substantia Nigra	brain
13	chr4:57975000-57977800	Active TSS	NHDF-Ad	bronchial
14	chr4:57975200-57977600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr4:57975200-57977600	Active TSS	Brain Cingulate Gyrus	brain
16	chr4:57975200-57977600	Active TSS	Lung	lung
17	chr4:57975400-57977600	Active TSS	Brain Angular Gyrus	brain
18	chr4:57975600-57977600	Active TSS	Gastric	stomach
19	chr4:57975800-57977600	Active TSS	Primary T cells from cord blood	blood
20	chr4:57975800-57977600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
21	chr4:57975800-57977800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr4:57976000-57977600	Bivalent/Poised TSS	HepG2	liver
23	chr4:57976200-57977800	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr4:57976200-57977800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr4:57976400-57977600	Active TSS	Colonic Mucosa	Colon
26	chr4:57976400-57977600	Bivalent/Poised TSS	Thymus	Thymus
27	chr4:57976400-57977800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:57976400-57978000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:57976600-57977600	Enhancers	Spleen	Spleen
30	chr4:57976600-57977800	Active TSS	Stomach Smooth Muscle	stomach
31	chr4:57976600-57978000	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr4:57976600-57979000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:57976600-57979200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:57976800-57977600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
35	chr4:57976800-57977600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
36	chr4:57976800-57977600	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
37	chr4:57976800-57977600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr4:57976800-57977600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:57976800-57977600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:57976800-57977600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:57976800-57977600	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr4:57976800-57977600	Flanking Active TSS	Liver	Liver
43	chr4:57976800-57977600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr4:57976800-57977600	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr4:57976800-57977600	Flanking Active TSS	Placenta	Placenta
46	chr4:57976800-57977600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr4:57976800-57977800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:57976800-57977800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr4:57976800-57977800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:57976800-57977800	Flanking Active TSS	Fetal Heart	heart

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