Variant report

Variant	rs13321111
Chromosome Location	chr3:51572276-51572277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr3:51572151-51572897	HEK293	kidney:	n/a	n/a
2	POLR2A	chr3:51572243-51572932	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr3:51572272-51573064	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr3:51572276-51573159	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:51572276-51573040	MCF10A-Er-Src	breast:	n/a	n/a
6	MYBL2	chr3:51572185-51572966	HepG2	liver:	n/a	n/a
7	GABPA	chr3:51572241-51572981	MCF-7	breast:	n/a	chr3:51572690-51572699
8	BHLHE40	chr3:51572085-51573094	GM12878	blood:	n/a	chr3:51572904-51572920
9	RCOR1	chr3:51572242-51572934	HepG2	liver:	n/a	n/a
10	JUND	chr3:51572199-51572879	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr3:51572239-51573268	H1-hESC	embryonic stem cell:	n/a	chr3:51572779-51572793 chr3:51572966-51572977 chr3:51572963-51572977 chr3:51572744-51572753 chr3:51572960-51572974 chr3:51572782-51572796
12	MAZ	chr3:51571979-51574231	IMR90	lung:	n/a	n/a
13	RELA	chr3:51572063-51572938	GM18951	blood:	n/a	n/a
14	POLR2A	chr3:51572194-51573016	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF1	chr3:51572251-51573402	H1-hESC	embryonic stem cell:	n/a	n/a
16	SMARCC1	chr3:51572092-51573853	Hela-S3	cervix:	n/a	chr3:51573789-51573798 chr3:51573631-51573640
17	TAF1	chr3:51572248-51572790	A549	lung:	n/a	n/a
18	MAX	chr3:51572001-51572333	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr3:51571928-51573012	HCT-116	colon:	n/a	n/a
20	POLR2A	chr3:51572272-51573063	GM12878	blood:	n/a	n/a
21	MAFK	chr3:51572223-51572761	K562	blood:	n/a	n/a
22	CHD2	chr3:51572236-51572804	HepG2	liver:	n/a	n/a
23	POLR2A	chr3:51572220-51572918	U87	brain:	n/a	n/a
24	ZNF263	chr3:51572173-51573045	HEK293-T-REx	kidney:	n/a	n/a
25	MXI1	chr3:51571741-51574162	SK-N-SH	brain:	n/a	n/a
26	TBP	chr3:51572198-51573609	H1-hESC	embryonic stem cell:	n/a	n/a
27	TBL1XR1	chr3:51572222-51572905	K562	blood:	n/a	n/a
28	RUNX3	chr3:51572001-51573009	GM12878	blood:	n/a	n/a
29	POLR2A	chr3:51572049-51573235	K562	blood:	n/a	n/a
30	TAF1	chr3:51572261-51572933	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr3:51572191-51573688	GM19193	blood:	n/a	n/a
32	POLR2A	chr3:51572214-51572924	U87	brain:	n/a	n/a
33	TBL1XR1	chr3:51572231-51572837	GM12878	blood:	n/a	n/a
34	KAP1	chr3:51572105-51572715	U2OS	brain:	n/a	n/a
35	MAX	chr3:51571957-51572965	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr3:51572126-51573119	PBDE	blood:	n/a	n/a
37	MAX	chr3:51572041-51573061	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr3:51572099-51573090	GM15510	blood:	n/a	n/a
39	MAX	chr3:51572042-51572893	NB4	blood:	n/a	n/a
40	MAX	chr3:51572182-51572903	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr3:51572276-51572963	GM12878	blood:	n/a	n/a
42	POLR2A	chr3:51572007-51573747	GM18505	blood:	n/a	n/a
43	POLR2A	chr3:51572182-51573135	HUVEC	blood vessel:	n/a	n/a
44	CHD1	chr3:51571910-51574678	IMR90	lung:	n/a	n/a
45	POLR2A	chr3:51572091-51573144	GM12892	blood:	n/a	n/a
46	E2F6	chr3:51571978-51572999	K562	blood:	n/a	chr3:51572745-51572755
47	POLR2A	chr3:51572207-51573098	HEK293	kidney:	n/a	n/a
48	PML	chr3:51572120-51573065	GM12878	blood:	n/a	n/a
49	EP300	chr3:51572171-51572816	GM12878	blood:	n/a	chr3:51572745-51572754 chr3:51572780-51572796
50	USF2	chr3:51572219-51572631	Hela-S3	cervix:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:51533211..51536812-chr3:51571944..51573713,3	MCF-7	breast:
2	chr3:51428771..51431051-chr3:51571775..51574665,3	K562	blood:
3	chr3:51537197..51540003-chr3:51571776..51574071,2	MCF-7	breast:
4	chr3:51571369..51573938-chr3:51651321..51654419,3	MCF-7	breast:
5	chr3:51532461..51534963-chr3:51570709..51574166,3	K562	blood:
6	chr3:51534724..51536284-chr3:51571592..51573333,2	MCF-7	breast:
7	chr3:51569925..51574030-chr3:51574727..51581311,8	MCF-7	breast:
8	chr3:51571143..51574733-chr3:51574758..51577446,3	K562	blood:
9	chr3:51532744..51536241-chr3:51571123..51575595,5	K562	blood:
10	chr3:51424893..51427102-chr3:51572077..51573890,2	MCF-7	breast:

No data

Variant related genes	Relation type
RAD54L2	TF binding region
ENSG00000145041	Chromatin interaction
ENSG00000164080	Chromatin interaction
ENSG00000145050	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13316894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13317936	1.00[AMR][1000 genomes]
rs13322621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13327225	1.00[AMR][1000 genomes]
rs13353505	1.00[AMR][1000 genomes]
rs28454463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28626048	1.00[AMR][1000 genomes]
rs28890042	1.00[AMR][1000 genomes]
rs6777506	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6779163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6806124	1.00[AMR][1000 genomes]
rs7635546	1.00[AMR][1000 genomes]
rs9812682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9826415	1.00[AMR][1000 genomes]
rs9828325	1.00[AMR][1000 genomes]
rs9829002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9841963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9846343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9853900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9855214	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9868612	1.00[AMR][1000 genomes]
rs9875513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9878053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51571600-51572600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:51571600-51572600	Flanking Active TSS	Dnd41	blood
3	chr3:51571600-51573600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:51571600-51573800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr3:51571600-51574200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr3:51571600-51574200	Active TSS	HSMM	muscle
7	chr3:51571600-51574200	Active TSS	NHLF	lung
8	chr3:51571800-51572400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr3:51571800-51572400	Flanking Active TSS	Colonic Mucosa	Colon
10	chr3:51571800-51572400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr3:51571800-51572400	Flanking Active TSS	Fetal Brain Female	brain
12	chr3:51571800-51572400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr3:51571800-51572400	Flanking Active TSS	NHEK	skin
14	chr3:51571800-51572600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:51571800-51572600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:51571800-51572600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr3:51571800-51572800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:51571800-51573400	Active TSS	Brain Germinal Matrix	brain
19	chr3:51571800-51573600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr3:51572000-51572400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:51572000-51572400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:51572000-51572400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:51572000-51572400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:51572000-51572400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr3:51572000-51572400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:51572000-51572400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:51572000-51572400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr3:51572000-51572400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:51572000-51572400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:51572000-51572400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr3:51572000-51572400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr3:51572000-51572400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr3:51572000-51572400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:51572000-51572400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr3:51572000-51572400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:51572000-51572400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr3:51572000-51572400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:51572000-51572400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr3:51572000-51572400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:51572000-51572400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:51572000-51572400	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr3:51572000-51572400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr3:51572000-51572400	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr3:51572000-51572400	Flanking Active TSS	Fetal Stomach	stomach
45	chr3:51572000-51572400	Flanking Active TSS	Pancreas	Pancrea
46	chr3:51572000-51572400	Flanking Active TSS	Hela-S3	cervix
47	chr3:51572000-51572400	Flanking Active TSS	HSMMtube	muscle
48	chr3:51572000-51572400	Flanking Active TSS	HUVEC	blood vessel
49	chr3:51572000-51572400	Flanking Active TSS	Osteobl	bone
50	chr3:51572000-51572600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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