Variant report

Variant	rs60218085
Chromosome Location	chr5:146889881-146889882
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	REST	chr5:146889379-146889947	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr5:146889350-146889898	HUVEC	blood vessel:	n/a	n/a
3	NRF1	chr5:146889324-146890228	SK-N-SH	brain:	n/a	chr5:146889608-146889617 chr5:146889757-146889771
4	RAD21	chr5:146889343-146890128	IMR90	lung:	n/a	n/a
5	BACH1	chr5:146889143-146889990	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr5:146888958-146890023	A549	lung:	n/a	n/a
7	POLR2A	chr5:146889110-146889964	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr5:146888177-146890137	IMR90	lung:	n/a	n/a
9	MAX	chr5:146889258-146889983	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr5:146889301-146889899	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr5:146888666-146890029	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr5:146889329-146890028	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZNF143	chr5:146889151-146890080	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:146889120-146889988	H1-neurons	neurons:	n/a	n/a
15	E2F6	chr5:146889128-146889932	A549	lung:	n/a	chr5:146889753-146889763 chr5:146889232-146889240 chr5:146889823-146889830 chr5:146889823-146889830 chr5:146889753-146889764 chr5:146889474-146889484 chr5:146889823-146889830
16	CTCF	chr5:146889190-146890256	A549	lung:	n/a	chr5:146889513-146889526
17	CTCF	chr5:146889342-146890044	IMR90	lung:	n/a	chr5:146889513-146889526
18	POLR2A	chr5:146889062-146889996	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr5:146889445-146889897	H1-hESC	embryonic stem cell:	n/a	n/a
20	REST	chr5:146888716-146889994	H1-neurons	neurons:	n/a	chr5:146889948-146889961
21	POLR2A	chr5:146889157-146890133	SK-N-MC	brain:	n/a	n/a
22	MAX	chr5:146888693-146890015	H1-hESC	embryonic stem cell:	n/a	chr5:146888775-146888785
23	MAX	chr5:146888533-146890094	HCT-116	colon:	n/a	chr5:146888775-146888785
24	MAX	chr5:146889116-146890047	SK-N-SH	brain:	n/a	n/a
25	FOS	chr5:146889502-146889916	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr5:146889290-146889887	A549	lung:	n/a	n/a
27	MYC	chr5:146889350-146890012	A549	lung:	n/a	n/a
28	MAX	chr5:146888642-146889996	H1-hESC	embryonic stem cell:	n/a	chr5:146888775-146888785
29	STAT3	chr5:146889878-146890186	MCF10A-Er-Src	breast:	n/a	n/a
30	CEBPB	chr5:146889666-146889948	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr5:146889151-146890035	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr5:146889384-146889929	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr5:146889275-146889941	SK-N-SH	brain:	n/a	n/a
34	MAX	chr5:146888642-146890173	A549	lung:	n/a	chr5:146888775-146888785
35	CTCF	chr5:146889840-146889990	HAc	cerebellar:	n/a	n/a
36	E2F6	chr5:146888998-146890034	A549	lung:	n/a	chr5:146889753-146889763 chr5:146889232-146889240 chr5:146889823-146889830 chr5:146889823-146889830 chr5:146889753-146889764 chr5:146889474-146889484 chr5:146889823-146889830
37	TAF1	chr5:146889358-146889969	SK-N-SH	brain:	n/a	n/a
38	YY1	chr5:146889267-146889897	SK-N-SH_RA	brain:	n/a	n/a
39	POLR2A	chr5:146889162-146890094	HUVEC	blood vessel:	n/a	n/a
40	MAX	chr5:146889084-146890026	SK-N-SH	brain:	n/a	n/a
41	FOXP2	chr5:146889398-146889905	SK-N-MC	brain:	n/a	n/a
42	SIN3AK20	chr5:146889191-146889979	SK-N-SH	brain:	n/a	n/a
43	SIN3A	chr5:146888497-146890088	H1-hESC	embryonic stem cell:	n/a	n/a
44	ZNF263	chr5:146888343-146890962	HEK293-T-REx	kidney:	n/a	chr5:146889514-146889523 chr5:146888920-146888929
45	TEAD4	chr5:146889384-146889941	H1-hESC	embryonic stem cell:	n/a	n/a
46	STAT3	chr5:146889880-146890214	MCF10A-Er-Src	breast:	n/a	n/a
47	CEBPB	chr5:146889532-146890212	IMR90	lung:	n/a	n/a
48	POLR2A	chr5:146889365-146889895	HUVEC	blood vessel:	n/a	n/a
49	MAX	chr5:146888963-146890101	HCT-116	colon:	n/a	n/a
50	POLR2A	chr5:146889083-146889924	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
DPYSL3	TF binding region

rs_ID	r²[population]
rs12656097	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17106791	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2895682	0.86[AFR][1000 genomes]
rs3813670	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4705039	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56210212	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56967216	0.95[AFR][1000 genomes]
rs58919250	0.95[AFR][1000 genomes]
rs60425528	0.95[AFR][1000 genomes]
rs73264246	0.95[AFR][1000 genomes]
rs73264248	0.95[AFR][1000 genomes]
rs73264254	1.00[AFR][1000 genomes]
rs73264255	0.95[AFR][1000 genomes]
rs73794778	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7720830	1.00[AFR][1000 genomes]
rs918525	1.00[AFR][1000 genomes]
rs930213	0.87[AMR][1000 genomes]

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146886600-146890000	Active TSS	Colon Smooth Muscle	Colon
2	chr5:146886600-146890000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr5:146886600-146890000	Active TSS	Stomach Smooth Muscle	stomach
4	chr5:146887200-146890000	Active TSS	NHDF-Ad	bronchial
5	chr5:146887200-146890200	Active TSS	Ovary	ovary
6	chr5:146887200-146890200	Active TSS	Right Atrium	heart
7	chr5:146887400-146890000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:146887400-146890000	Active TSS	Aorta	Aorta
9	chr5:146888000-146890000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:146888000-146890000	Active TSS	NHLF	lung
11	chr5:146888000-146890200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:146888000-146890200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
13	chr5:146888200-146890000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
14	chr5:146888200-146890000	Active TSS	Brain Substantia Nigra	brain
15	chr5:146888200-146890000	Active TSS	Left Ventricle	heart
16	chr5:146888200-146890200	Bivalent/Poised TSS	A549	lung
17	chr5:146888400-146890000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:146888400-146890000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:146888400-146890000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:146888400-146890000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:146888400-146890000	Flanking Active TSS	HMEC	breast
22	chr5:146888400-146890200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
23	chr5:146888600-146890000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr5:146888600-146890200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr5:146888600-146890200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:146888800-146890000	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr5:146888800-146890000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
28	chr5:146888800-146890000	Bivalent/Poised TSS	Fetal Kidney	kidney
29	chr5:146888800-146890200	Active TSS	Fetal Brain Female	brain
30	chr5:146889000-146890000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:146889000-146890000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
32	chr5:146889000-146890000	Active TSS	Esophagus	oesophagus
33	chr5:146889200-146890000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
34	chr5:146889200-146890000	Flanking Active TSS	Gastric	stomach
35	chr5:146889200-146890200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
36	chr5:146889400-146890000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:146889400-146890000	Bivalent Enhancer	Liver	Liver
38	chr5:146889400-146890000	Bivalent/Poised TSS	Psoas Muscle	Psoas
39	chr5:146889400-146890000	Active TSS	Spleen	Spleen
40	chr5:146889600-146890000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:146889600-146890000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:146889600-146890000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:146889600-146890000	Flanking Bivalent TSS/Enh	Fetal Heart	heart
44	chr5:146889600-146890000	Flanking Active TSS	Right Ventricle	heart
45	chr5:146889600-146890000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr5:146889600-146890200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:146889600-146890200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
48	chr5:146889600-146890200	Flanking Active TSS	Fetal Brain Male	brain
49	chr5:146889800-146890000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr5:146889800-146890000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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