Variant report

Variant	rs28926194
Chromosome Location	chr5:95159893-95159894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:146)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:146 , 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	USF1	chr5:95159562-95159997	A549	lung:	n/a	n/a
3	EP300	chr5:95159223-95159895	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:95159317-95160413	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr5:95159308-95160428	Hela-S3	cervix:	n/a	n/a
6	BCLAF1	chr5:95159458-95160310	GM12878	blood:	n/a	n/a
7	MAX	chr5:95159541-95160171	K562	blood:	n/a	n/a
8	USF1	chr5:95159566-95159996	A549	lung:	n/a	n/a
9	MAX	chr5:95158941-95160200	A549	lung:	n/a	n/a
10	JUND	chr5:95159302-95159932	Hela-S3	cervix:	n/a	chr5:95159519-95159530
11	USF2	chr5:95159421-95160175	GM12878	blood:	n/a	chr5:95159807-95159818
12	POLR2A	chr5:95156822-95160771	GM12891	blood:	n/a	n/a
13	ZKSCAN1	chr5:95159121-95160405	Hela-S3	cervix:	n/a	n/a
14	FOS	chr5:95159263-95160011	HUVEC	blood vessel:	n/a	chr5:95159519-95159530
15	POLR2A	chr5:95159867-95160182	GM12878	blood:	n/a	n/a
16	E2F6	chr5:95159715-95159966	K562	blood:	n/a	n/a
17	POLR2A	chr5:95156897-95160393	GM12892	blood:	n/a	n/a
18	FOSL2	chr5:95159034-95160015	A549	lung:	n/a	chr5:95159520-95159531
19	CHD1	chr5:95156831-95160568	IMR90	lung:	n/a	n/a
20	TBP	chr5:95157691-95160265	GM12878	blood:	n/a	n/a
21	ZNF143	chr5:95159737-95160221	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:95157670-95160015	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr5:95158866-95160544	GM19193	blood:	n/a	n/a
24	RCOR1	chr5:95159203-95160105	Hela-S3	cervix:	n/a	n/a
25	MYBL2	chr5:95159152-95160177	HepG2	liver:	n/a	n/a
26	TBP	chr5:95159540-95159918	K562	blood:	n/a	n/a
27	USF1	chr5:95159573-95159910	SK-N-SH	brain:	n/a	n/a
28	USF1	chr5:95159611-95159938	SK-N-SH_RA	brain:	n/a	n/a
29	BHLHE40	chr5:95159538-95160256	GM12878	blood:	n/a	n/a
30	BRCA1	chr5:95159612-95160031	HepG2	liver:	n/a	n/a
31	FOSL2	chr5:95159239-95160119	HepG2	liver:	n/a	chr5:95159520-95159531
32	JUN	chr5:95159233-95160060	K562	blood:	n/a	n/a
33	RELA	chr5:95159261-95160017	GM19099	blood:	n/a	n/a
34	POLR2A	chr5:95157243-95160260	GM15510	blood:	n/a	n/a
35	MBD4	chr5:95159214-95160009	HepG2	liver:	n/a	n/a
36	MAZ	chr5:95159351-95160139	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr5:95159694-95160003	K562	blood:	n/a	n/a
38	POLR2A	chr5:95157774-95160184	IMR90	lung:	n/a	n/a
39	POLR2A	chr5:95156816-95160353	GM18505	blood:	n/a	n/a
40	POLR2A	chr5:95159157-95160384	HepG2	liver:	n/a	n/a
41	USF1	chr5:95159639-95159909	HepG2	liver:	n/a	n/a
42	RCOR1	chr5:95156804-95160777	IMR90	lung:	n/a	n/a
43	POLR2A	chr5:95157646-95160475	U87	brain:	n/a	n/a
44	CHD2	chr5:95157790-95160287	GM12878	blood:	n/a	n/a
45	PML	chr5:95159395-95160454	GM12878	blood:	n/a	n/a
46	RELA	chr5:95157699-95160289	GM15510	blood:	n/a	n/a
47	NFIC	chr5:95159366-95160119	HepG2	liver:	n/a	n/a
48	RCOR1	chr5:95158986-95160144	GM12878	blood:	n/a	n/a
49	POLR2A	chr5:95156795-95160390	GM19099	blood:	n/a	n/a
50	MYBL2	chr5:95158965-95160391	HepG2	liver:	n/a	n/a

No data

(count:6 , 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	chr5:95159650..95161680-chr5:95169175..95170926,2	MCF-7	breast:
4	chr5:95159839..95161506-chr5:95164819..95166390,2	MCF-7	breast:
5	chr5:95156076..95158959-chr5:95159159..95161216,2	MCF-7	breast:
6	chr5:95137694..95139720-chr5:95158837..95160612,2	MCF-7	breast:

No data

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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11135439	1.00[ASN][1000 genomes]
rs17085164	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17463444	1.00[ASN][1000 genomes]
rs17463911	1.00[ASN][1000 genomes]
rs17464446	1.00[ASN][1000 genomes]
rs257683	1.00[ASN][1000 genomes]
rs35129919	1.00[ASN][1000 genomes]
rs60575087	1.00[ASN][1000 genomes]
rs6556889	1.00[ASN][1000 genomes]
rs6888777	1.00[ASN][1000 genomes]
rs6891719	1.00[ASN][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:112 , 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	chr5:95157200-95160000	Active TSS	Brain Anterior Caudate	brain
3	chr5:95157600-95160400	Flanking Active TSS	K562	blood
4	chr5:95158200-95160000	Flanking Active TSS	HUVEC	blood vessel
5	chr5:95158200-95160200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:95158200-95160200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:95158200-95160400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr5:95158400-95160200	Flanking Active TSS	Fetal Thymus	thymus
9	chr5:95158400-95160200	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr5:95158400-95160200	Flanking Active TSS	NH-A	brain
11	chr5:95158400-95160400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr5:95158400-95160400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr5:95158400-95160600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr5:95158400-95160800	Flanking Active TSS	Dnd41	blood
15	chr5:95158600-95160000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:95158600-95160000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:95158600-95160000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr5:95158600-95160200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr5:95158600-95160200	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr5:95158600-95160200	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr5:95158600-95160200	Weak transcription	Gastric	stomach
22	chr5:95158600-95160200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr5:95158600-95160200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr5:95158600-95160400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr5:95158600-95160400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr5:95158600-95160400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:95158600-95160400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr5:95158600-95160400	Flanking Active TSS	A549	lung
29	chr5:95158600-95160600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:95158600-95160600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:95158600-95160600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:95158600-95160600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr5:95158600-95160600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:95158600-95160600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr5:95158600-95160600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr5:95158600-95160800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr5:95158600-95160800	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr5:95158600-95160800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr5:95158600-95160800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr5:95158600-95160800	Flanking Active TSS	Hela-S3	cervix
41	chr5:95158600-95161000	Enhancers	Small Intestine	intestine
42	chr5:95158800-95160000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr5:95158800-95160000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr5:95158800-95160000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:95158800-95160000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:95158800-95160000	Flanking Active TSS	Osteobl	bone
47	chr5:95158800-95160200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:95158800-95160200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:95158800-95160200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:95158800-95160200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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