Variant report

Variant	rs17524423
Chromosome Location	chr4:175444365-175444366
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	JUN	chr4:175443864-175444437	K562	blood:	n/a	chr4:175444420-175444431
2	GATA1	chr4:175443198-175445019	PBDE	blood:	n/a	n/a
3	SIN3A	chr4:175442921-175444483	H1-hESC	embryonic stem cell:	n/a	chr4:175443742-175443751 chr4:175443489-175443500
4	CREB1	chr4:175443611-175444633	K562	blood:	n/a	n/a
5	CBX3	chr4:175443625-175444649	K562	blood:	n/a	n/a
6	MAZ	chr4:175443202-175444421	K562	blood:	n/a	n/a
7	CREB1	chr4:175444049-175444553	K562	blood:	n/a	n/a
8	ATF3	chr4:175444189-175444447	K562	blood:	n/a	n/a
9	HCFC1	chr4:175443348-175444489	K562	blood:	n/a	n/a
10	ZNF384	chr4:175443809-175444770	K562	blood:	n/a	n/a
11	ATF1	chr4:175444081-175444464	K562	blood:	n/a	n/a
12	TCF12	chr4:175442755-175444887	A549	lung:	n/a	chr4:175442907-175442914
13	TBP	chr4:175443005-175444469	K562	blood:	n/a	n/a
14	NR2F2	chr4:175443745-175444428	K562	blood:	n/a	n/a
15	RCOR1	chr4:175443868-175444642	K562	blood:	n/a	n/a
16	POLR2A	chr4:175442615-175444690	PBDE	blood:	n/a	n/a
17	JUND	chr4:175443710-175444435	K562	blood:	n/a	chr4:175444420-175444431 chr4:175443765-175443775
18	TAF1	chr4:175444131-175444456	K562	blood:	n/a	n/a
19	KAP1	chr4:175442881-175444969	HEK293	kidney:	n/a	n/a
20	POLR2A	chr4:175443481-175444487	K562	blood:	n/a	n/a
21	KAP1	chr4:175443788-175444506	U2OS	brain:	n/a	n/a
22	BRCA1	chr4:175443783-175444375	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr4:175444120-175444487	K562	blood:	n/a	n/a
24	GATA2	chr4:175444216-175444857	SH-SY5Y	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEP44-1	chr4:175444202-175444572	XLOC_003787

Variant related genes	Relation type
HPGD	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17553108	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45535235	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6812740	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv525487	chr4:175400104-175470867	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv880884	chr4:175439056-175453830	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175440800-175446000	Active TSS	Duodenum Mucosa	Duodenum
2	chr4:175442000-175444800	Active TSS	Rectal Smooth Muscle	rectum
3	chr4:175442000-175445200	Active TSS	A549	lung
4	chr4:175442400-175444400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:175442400-175445400	Active TSS	Fetal Intestine Large	intestine
6	chr4:175442600-175444400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr4:175442600-175444400	Bivalent/Poised TSS	Fetal Lung	lung
8	chr4:175442600-175444400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
9	chr4:175442600-175444600	Active TSS	Fetal Intestine Small	intestine
10	chr4:175442600-175444800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr4:175442600-175444800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:175442600-175445200	Active TSS	Stomach Smooth Muscle	stomach
13	chr4:175442600-175445400	Active TSS	Colon Smooth Muscle	Colon
14	chr4:175442600-175445400	Active TSS	Stomach Mucosa	stomach
15	chr4:175442600-175445600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr4:175442800-175444400	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr4:175442800-175444400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr4:175442800-175444400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:175442800-175444400	Active TSS	Right Atrium	heart
20	chr4:175442800-175444400	Flanking Active TSS	NHEK	skin
21	chr4:175442800-175444600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr4:175442800-175444600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr4:175442800-175444600	Active TSS	Psoas Muscle	Psoas
24	chr4:175442800-175444600	Bivalent/Poised TSS	HSMM	muscle
25	chr4:175442800-175444600	Bivalent/Poised TSS	NHDF-Ad	bronchial
26	chr4:175442800-175444800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr4:175442800-175445400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr4:175443000-175444400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:175443000-175444400	Active TSS	Aorta	Aorta
30	chr4:175443000-175444400	Bivalent/Poised TSS	HSMMtube	muscle
31	chr4:175443000-175444600	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr4:175443000-175444600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
33	chr4:175443000-175444600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr4:175443000-175444800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr4:175443000-175444800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:175443200-175444400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:175443200-175444400	Bivalent/Poised TSS	NHLF	lung
38	chr4:175443200-175444600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:175443200-175444600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr4:175443200-175444600	Active TSS	Fetal Kidney	kidney
41	chr4:175443200-175444800	Active TSS	Esophagus	oesophagus
42	chr4:175443400-175444400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:175443400-175444400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:175443400-175444400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:175443400-175444400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:175443400-175444400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
47	chr4:175443400-175444400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
48	chr4:175443400-175444400	Flanking Bivalent TSS/Enh	HMEC	breast
49	chr4:175443400-175444600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:175443400-175444600	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--

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