Variant report

Variant	rs28728129
Chromosome Location	chr5:178367657-178367658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr5:178367353-178367853	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr5:178367461-178367844	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr5:178367375-178368905	SK-N-SH	brain:	n/a	chr5:178368168-178368183
4	TEAD4	chr5:178367407-178367732	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF143	chr5:178367613-178368324	H1-hESC	embryonic stem cell:	n/a	chr5:178368099-178368117
6	E2F6	chr5:178367319-178368602	H1-hESC	embryonic stem cell:	n/a	chr5:178368184-178368193
7	MAX	chr5:178367363-178368443	H1-hESC	embryonic stem cell:	n/a	chr5:178368174-178368183

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178367621-178367671	HAEpiC	amniotic membrane:	n/a
2	chr5:178367621-178367671	ovcar-3	ovarian:	n/a
3	chr5:178367621-178367671	PFSK-1	brain:	n/a
4	chr5:178367621-178367671	A549	lung:	n/a
5	chr5:178367621-178367671	U87	brain:	n/a
6	chr5:178367621-178367671	HCPEpiC	choroid plexus:	n/a
7	chr5:178367621-178367671	HEEpiC	esophagus:	n/a
8	chr5:178367621-178367671	AG09319	gingival:	n/a
9	chr5:178367621-178367671	PrEC	prostate:	n/a
10	chr5:178367621-178367671	IMR90	lung:	fetal
11	chr5:178367621-178367671	HCT-116	colon:	n/a
12	chr5:178367621-178367671	HCF	heart:	n/a
13	chr5:178367621-178367671	HepG2	liver:	n/a
14	chr5:178367621-178367671	AG04449	skin:	fetal
15	chr5:178367621-178367671	BE2_C	brain:	n/a
16	chr5:178367621-178367671	HNPCEpiC	eye:	n/a
17	chr5:178367621-178367671	NHDF-neo	bronchial:	n/a
18	chr5:178367621-178367671	RPTEC	kidney:	n/a
19	chr5:178367621-178367671	HL-60	blood:	n/a
20	chr5:178367621-178367671	HUVEC	blood vessel:	n/a
21	chr5:178367621-178367671	Jurkat	blood:	n/a
22	chr5:178367621-178367671	NB4	blood:	n/a
23	chr5:178367621-178367671	AG10803	skin:	n/a
24	chr5:178367621-178367671	PANC-1	pancreas:	n/a
25	chr5:178367621-178367671	GM12878	blood:	n/a
26	chr5:178367621-178367671	SK-N-SH	brain:	n/a
27	chr5:178367621-178367671	Hepatocyte	liver:	n/a
28	chr5:178367621-178367671	K562	blood:	n/a
29	chr5:178367621-178367671	HRPEpiC	eye:	n/a
30	chr5:178367621-178367671	Hela-S3	cervix:	n/a
31	chr5:178367621-178367671	SAEC	small airway:	n/a
32	chr5:178367621-178367671	ECC-1	luminal epithelium:	n/a
33	chr5:178367621-178367671	H1-hESC	embryonic stem cell:	embryo
34	chr5:178367621-178367671	T-47D	breast:	n/a
35	chr5:178367621-178367671	MCF-7	breast:	n/a
36	chr5:178367621-178367671	HRCEpiC	kidney:	n/a
37	chr5:178367621-178367671	HIPEpiC	eye:	n/a
38	chr5:178367621-178367671	NT2-D1	testis:	n/a
39	chr5:178367621-178367671	SK-N-MC	brain:	n/a
40	chr5:178367621-178367671	CMK	blood:	n/a
41	chr5:178367621-178367671	SKMC	muscle:	n/a
42	chr5:178367621-178367671	SK-N-SH_RA	brain:	n/a
43	chr5:178367621-178367671	BJ	skin:	n/a
44	chr5:178367621-178367671	MCF10A-Er-Src	breast:	n/a
45	chr5:178367621-178367671	AoSMC	blood vessel:	n/a
46	chr5:178367621-178367671	LNCaP	prostate:	n/a
47	chr5:178367621-178367671	GM12891	blood:	n/a
48	chr5:178367621-178367671	GM06990	blood:	n/a
49	chr5:178367621-178367671	HRE	kidney:	n/a
50	chr5:178367621-178367671	HMEC	breast:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRM6-1	chr5:178366753-178368084	ENSG00000248595
2	lnc-GRM6-1	chr5:178364381-178367686	NONHSAT105563

No data

Variant related genes	Relation type
ZNF454	TF binding region
ENSG00000272431	TF binding region
ENSG00000272431	CpG island
ZNF454	CpG island

rs_ID	r²[population]
rs10069181	0.94[ASN][1000 genomes]
rs10069435	0.86[ASN][1000 genomes]
rs17664029	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9329060	0.94[ASN][1000 genomes]

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178352400-178369200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:178353800-178374800	ZNF genes & repeats	Liver	Liver
3	chr5:178362800-178369000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
4	chr5:178363200-178369000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr5:178363800-178369000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:178364000-178368800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr5:178364600-178369200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr5:178365200-178369200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:178366000-178368000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr5:178366000-178370200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
11	chr5:178366200-178368000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:178366200-178368200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
13	chr5:178366400-178369000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr5:178366400-178369200	ZNF genes & repeats	Lung	lung
15	chr5:178366400-178372600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:178366600-178369000	Active TSS	Stomach Mucosa	stomach
17	chr5:178366800-178367800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
18	chr5:178366800-178368000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr5:178366800-178368800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:178366800-178368800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
21	chr5:178366800-178368800	Active TSS	Brain Angular Gyrus	brain
22	chr5:178366800-178369000	Active TSS	Brain Cingulate Gyrus	brain
23	chr5:178366800-178369000	ZNF genes & repeats	HSMMtube	muscle
24	chr5:178366800-178370200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr5:178366800-178370200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr5:178366800-178370400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:178367000-178367800	Flanking Active TSS	Fetal Brain Male	brain
28	chr5:178367000-178367800	ZNF genes & repeats	NH-A	brain
29	chr5:178367000-178368600	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr5:178367000-178368800	Active TSS	Psoas Muscle	Psoas
31	chr5:178367000-178369000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr5:178367000-178369000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:178367000-178370400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr5:178367000-178374600	ZNF genes & repeats	Spleen	Spleen
35	chr5:178367200-178367800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr5:178367200-178368000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
37	chr5:178367200-178368400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:178367200-178368400	Active TSS	Stomach Smooth Muscle	stomach
39	chr5:178367200-178368600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:178367200-178368600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:178367200-178368600	Active TSS	Fetal Intestine Small	intestine
42	chr5:178367200-178368600	Active TSS	Ovary	ovary
43	chr5:178367200-178368800	Active TSS	Colon Smooth Muscle	Colon
44	chr5:178367200-178368800	Active TSS	NHDF-Ad	bronchial
45	chr5:178367200-178368800	ZNF genes & repeats	NHEK	skin
46	chr5:178367200-178368800	Active TSS	NHLF	lung
47	chr5:178367200-178369000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:178367200-178369000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:178367200-178369000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr5:178367200-178369000	Active TSS	Right Atrium	heart

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