Variant report

Variant	rs17085143
Chromosome Location	chr5:95159287-95159288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:113)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:113 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr5:95158909-95160619	HepG2	liver:	n/a	n/a
2	WRNIP1	chr5:95157037-95159481	GM12878	blood:	n/a	n/a
3	ELK4	chr5:95159106-95159637	Hela-S3	cervix:	n/a	n/a
4	EP300	chr5:95159223-95159895	HepG2	liver:	n/a	n/a
5	MAX	chr5:95158941-95160200	A549	lung:	n/a	n/a
6	POLR2A	chr5:95156822-95160771	GM12891	blood:	n/a	n/a
7	ZKSCAN1	chr5:95159121-95160405	Hela-S3	cervix:	n/a	n/a
8	FOS	chr5:95159263-95160011	HUVEC	blood vessel:	n/a	chr5:95159519-95159530
9	POLR2A	chr5:95156897-95160393	GM12892	blood:	n/a	n/a
10	FOSL2	chr5:95159034-95160015	A549	lung:	n/a	chr5:95159520-95159531
11	CHD1	chr5:95156831-95160568	IMR90	lung:	n/a	n/a
12	ARID3A	chr5:95159281-95159700	HepG2	liver:	n/a	n/a
13	FOSL2	chr5:95159200-95159839	SK-N-SH	brain:	n/a	chr5:95159520-95159531
14	FOXA1	chr5:95159172-95159784	HepG2	liver:	n/a	n/a
15	TBP	chr5:95157691-95160265	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:95157670-95160015	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr5:95158866-95160544	GM19193	blood:	n/a	n/a
18	RCOR1	chr5:95159203-95160105	Hela-S3	cervix:	n/a	n/a
19	MYBL2	chr5:95159152-95160177	HepG2	liver:	n/a	n/a
20	EP300	chr5:95159141-95159807	K562	blood:	n/a	n/a
21	FOSL2	chr5:95159239-95160119	HepG2	liver:	n/a	chr5:95159520-95159531
22	RAD21	chr5:95159282-95159808	Hela-S3	cervix:	n/a	n/a
23	JUN	chr5:95159233-95160060	K562	blood:	n/a	n/a
24	RELA	chr5:95159261-95160017	GM19099	blood:	n/a	n/a
25	POLR2A	chr5:95157243-95160260	GM15510	blood:	n/a	n/a
26	MBD4	chr5:95159214-95160009	HepG2	liver:	n/a	n/a
27	CHD2	chr5:95159140-95159773	HepG2	liver:	n/a	n/a
28	ELF1	chr5:95159252-95159645	HepG2	liver:	n/a	n/a
29	POLR2A	chr5:95157774-95160184	IMR90	lung:	n/a	n/a
30	CEBPB	chr5:95159251-95159752	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr5:95156816-95160353	GM18505	blood:	n/a	n/a
32	POLR2A	chr5:95159157-95160384	HepG2	liver:	n/a	n/a
33	RCOR1	chr5:95156804-95160777	IMR90	lung:	n/a	n/a
34	POLR2A	chr5:95157646-95160475	U87	brain:	n/a	n/a
35	MBD4	chr5:95159031-95159868	HepG2	liver:	n/a	n/a
36	CTCF	chr5:95159260-95159410	HCM	heart:	n/a	n/a
37	CHD2	chr5:95157790-95160287	GM12878	blood:	n/a	n/a
38	RELA	chr5:95157699-95160289	GM15510	blood:	n/a	n/a
39	SP1	chr5:95159233-95159731	HepG2	liver:	n/a	n/a
40	RCOR1	chr5:95158986-95160144	GM12878	blood:	n/a	n/a
41	POLR2A	chr5:95156795-95160390	GM19099	blood:	n/a	n/a
42	MYBL2	chr5:95158965-95160391	HepG2	liver:	n/a	n/a
43	SMARCC1	chr5:95158214-95160757	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr5:95159240-95159390	RPTEC	kidney:	n/a	n/a
45	TAF1	chr5:95159271-95159888	Hela-S3	cervix:	n/a	n/a
46	RCOR1	chr5:95159240-95160171	K562	blood:	n/a	n/a
47	POLR2A	chr5:95156904-95160434	GM12878	blood:	n/a	n/a
48	POLR2A	chr5:95159187-95160481	HCT-116	colon:	n/a	n/a
49	POLR2A	chr5:95159035-95160401	HepG2	liver:	n/a	n/a
50	EP300	chr5:95159227-95159754	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:94890265..94891768-chr5:95158248..95160600,2	K562	blood:
2	chr5:95157133..95161008-chr5:95170364..95173601,6	MCF-7	breast:
3	chr5:158649..159235-chr5:95159285..95159785,2	Hela-S3	cervix:
4	chr5:95156076..95158959-chr5:95159159..95161216,2	MCF-7	breast:
5	chr5:95137694..95139720-chr5:95158837..95160612,2	MCF-7	breast:

No data

Variant related genes	Relation type
GLRX	TF binding region
ENSG00000251000	Chromatin interaction
ENSG00000173221	Chromatin interaction
ENSG00000164291	Chromatin interaction
ENSG00000198677	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10041927	1.00[AMR][1000 genomes]
rs10051654	1.00[AMR][1000 genomes]
rs10071673	1.00[AMR][1000 genomes]
rs10076138	1.00[AMR][1000 genomes]
rs10077822	1.00[AMR][1000 genomes]
rs10476543	1.00[AMR][1000 genomes]
rs17085065	1.00[AMR][1000 genomes]
rs17085067	1.00[AMR][1000 genomes]
rs17085087	1.00[AMR][1000 genomes]
rs17085092	1.00[AMR][1000 genomes]
rs17085131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17085133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17085324	1.00[AMR][1000 genomes]
rs17085331	1.00[AMR][1000 genomes]
rs2161314	1.00[AFR][1000 genomes]
rs28469700	1.00[AMR][1000 genomes]
rs28927968	1.00[AMR][1000 genomes]
rs28927970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28927976	1.00[AFR][1000 genomes]
rs29000874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs29000875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56727798	1.00[AMR][1000 genomes]
rs57696954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58023885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58796894	1.00[AMR][1000 genomes]
rs889223	1.00[AFR][1000 genomes];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	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv462255	chr5:95142817-95168155	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv598961	chr5:95142817-95168155	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv882389	chr5:95144952-95173887	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr5:95153200-95160400	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr5:95156800-95159800	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr5:95157200-95159400	Active TSS	Psoas Muscle	Psoas
4	chr5:95157200-95159800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:95157200-95160000	Active TSS	Brain Anterior Caudate	brain
6	chr5:95157600-95159600	Active TSS	Colonic Mucosa	Colon
7	chr5:95157600-95159600	Active TSS	Right Atrium	heart
8	chr5:95157600-95160400	Flanking Active TSS	K562	blood
9	chr5:95158200-95160000	Flanking Active TSS	HUVEC	blood vessel
10	chr5:95158200-95160200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:95158200-95160200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:95158200-95160400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr5:95158400-95159800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr5:95158400-95160200	Flanking Active TSS	Fetal Thymus	thymus
15	chr5:95158400-95160200	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr5:95158400-95160200	Flanking Active TSS	NH-A	brain
17	chr5:95158400-95160400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr5:95158400-95160400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr5:95158400-95160600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr5:95158400-95160800	Flanking Active TSS	Dnd41	blood
21	chr5:95158600-95159400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:95158600-95159400	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr5:95158600-95159400	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr5:95158600-95159600	Flanking Active TSS	Fetal Lung	lung
25	chr5:95158600-95159800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:95158600-95159800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:95158600-95159800	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr5:95158600-95160000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:95158600-95160000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:95158600-95160000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr5:95158600-95160200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr5:95158600-95160200	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr5:95158600-95160200	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr5:95158600-95160200	Weak transcription	Gastric	stomach
35	chr5:95158600-95160200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr5:95158600-95160200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr5:95158600-95160400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr5:95158600-95160400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr5:95158600-95160400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:95158600-95160400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr5:95158600-95160400	Flanking Active TSS	A549	lung
42	chr5:95158600-95160600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:95158600-95160600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:95158600-95160600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:95158600-95160600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr5:95158600-95160600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:95158600-95160600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr5:95158600-95160600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr5:95158600-95160800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr5:95158600-95160800	Flanking Active TSS	Primary T cells from cord blood	blood

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