Variant report

Variant	rs405447
Chromosome Location	chr6:13713099-13713100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr6:13712790-13713144	GM12878	blood:	n/a	n/a
2	SPI1	chr6:13712586-13713446	GM12878	blood:	n/a	chr6:13712763-13712776
3	CBX3	chr6:13712182-13713153	K562	blood:	n/a	n/a
4	IKZF1	chr6:13712749-13713130	GM12878	blood:	n/a	n/a
5	BATF	chr6:13712807-13713104	GM12878	blood:	n/a	n/a
6	RFX5	chr6:13711912-13713126	Hela-S3	cervix:	n/a	n/a
7	SPI1	chr6:13712945-13713124	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:13711608-13713176	K562	blood:	n/a	n/a
9	EP300	chr6:13712261-13713240	GM12878	blood:	n/a	chr6:13712435-13712444 chr6:13712295-13712304
10	TBP	chr6:13712273-13713163	Hela-S3	cervix:	n/a	n/a
11	NFIC	chr6:13712186-13713171	GM12878	blood:	n/a	n/a
12	TBP	chr6:13712235-13713175	GM12878	blood:	n/a	n/a
13	MAFK	chr6:13712149-13713121	IMR90	lung:	n/a	chr6:13713041-13713056
14	EP300	chr6:13711700-13713101	K562	blood:	n/a	chr6:13712034-13712043 chr6:13712435-13712444 chr6:13712295-13712304 chr6:13711814-13711823
15	EBF1	chr6:13712840-13713131	GM12878	blood:	n/a	n/a
16	NR2F2	chr6:13712036-13713392	K562	blood:	n/a	n/a
17	POLR2A	chr6:13712154-13713161	SK-N-MC	brain:	n/a	n/a
18	CHD1	chr6:13711607-13713115	GM12878	blood:	n/a	n/a
19	GATA3	chr6:13712654-13713332	T-47D	breast:	n/a	n/a
20	EBF1	chr6:13712859-13713145	GM12878	blood:	n/a	n/a
21	SPI1	chr6:13712300-13713291	HL-60	blood:	n/a	chr6:13712763-13712776
22	SPI1	chr6:13712890-13713111	K562	blood:	n/a	n/a
23	TBP	chr6:13711723-13713102	HepG2	liver:	n/a	n/a
24	POLR2A	chr6:13711020-13713152	GM18505	blood:	n/a	n/a
25	MAZ	chr6:13709383-13713232	IMR90	lung:	n/a	chr6:13711071-13711081
26	SPI1	chr6:13712860-13713195	GM12891	blood:	n/a	n/a
27	TEAD4	chr6:13711649-13713184	K562	blood:	n/a	n/a
28	MYC	chr6:13711613-13713115	K562	blood:	n/a	n/a
29	POLR2A	chr6:13711630-13713139	HepG2	liver:	n/a	n/a
30	POLR2A	chr6:13710764-13713156	HepG2	liver:	n/a	n/a
31	TEAD4	chr6:13712131-13713171	K562	blood:	n/a	n/a
32	MEF2A	chr6:13712753-13713323	GM12878	blood:	n/a	chr6:13712927-13712941
33	HCFC1	chr6:13711481-13713143	Hela-S3	cervix:	n/a	n/a
34	PML	chr6:13711593-13713262	K562	blood:	n/a	n/a
35	POLR2A	chr6:13711004-13713172	GM19099	blood:	n/a	n/a
36	CUX1	chr6:13712251-13713107	K562	blood:	n/a	n/a
37	MAFK	chr6:13712275-13713190	K562	blood:	n/a	chr6:13713041-13713056
38	TBL1XR1	chr6:13712171-13713193	K562	blood:	n/a	n/a
39	TBL1XR1	chr6:13711728-13713137	GM12878	blood:	n/a	n/a
40	MXI1	chr6:13711531-13713164	IMR90	lung:	n/a	n/a
41	POLR2A	chr6:13711534-13713154	GM12878	blood:	n/a	n/a
42	ATF2	chr6:13712162-13713177	GM12878	blood:	n/a	n/a
43	POU2F2	chr6:13712881-13713320	GM12878	blood:	n/a	chr6:13713092-13713105 chr6:13713086-13713104 chr6:13713096-13713107 chr6:13713088-13713101 chr6:13713096-13713107 chr6:13713090-13713099 chr6:13713092-13713105 chr6:13713092-13713105 chr6:13713097-13713107 chr6:13713093-13713111
44	SPI1	chr6:13712842-13713199	GM12878	blood:	n/a	n/a
45	POLR2A	chr6:13711639-13713163	GM12891	blood:	n/a	n/a
46	POLR2A	chr6:13712965-13713151	GM12878	blood:	n/a	n/a
47	MAZ	chr6:13711617-13713195	GM12878	blood:	n/a	n/a
48	SPI1	chr6:13712813-13713136	GM12891	blood:	n/a	n/a
49	POLR2A	chr6:13711578-13713194	GM12878	blood:	n/a	n/a
50	BHLHE40	chr6:13712951-13713151	GM12878	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13686589..13691071-chr6:13710597..13713720,6	K562	blood:
2	chr6:13703743..13705757-chr6:13712344..13714353,2	MCF-7	breast:
3	chr6:13612439..13617063-chr6:13710643..13713872,7	MCF-7	breast:
4	chr6:13685654..13687254-chr6:13711731..13713330,2	MCF-7	breast:
5	chr6:13712256..13714398-chr6:13725384..13727195,2	MCF-7	breast:
6	chr6:13613792..13617654-chr6:13711804..13714048,3	K562	blood:
7	chr6:13712562..13715550-chr6:13731027..13734094,5	K562	blood:
8	chr6:13712294..13715235-chr6:13734842..13736345,2	K562	blood:
9	chr6:13612229..13617961-chr6:13707977..13713490,13	K562	blood:
10	chr6:13658437..13687167-chr6:13707669..13717356,51	K562	blood:
11	chr6:13272896..13275816-chr6:13711430..13713666,2	K562	blood:
12	chr6:13613655..13618769-chr6:13709987..13714197,10	MCF-7	breast:
13	chr6:13711887..13713957-chr6:13747635..13751147,3	K562	blood:
14	chr6:13667308..13669773-chr6:13712805..13714594,2	K562	blood:
15	chr6:13712160..13713873-chr6:13816640..13818344,2	K562	blood:
16	chr6:13710378..13713685-chr6:13811318..13818372,10	MCF-7	breast:
17	chr6:13573088..13576408-chr6:13709684..13713261,5	MCF-7	breast:
18	chr6:13573221..13576787-chr6:13710917..13713733,6	K562	blood:
19	chr6:13711847..13714774-chr6:13741208..13742857,2	K562	blood:
20	chr6:13677099..13683232-chr6:13708060..13717356,16	K562	blood:
21	chr1:65532144..65534298-chr6:13711181..13713399,2	MCF-7	breast:
22	chr6:13573217..13575552-chr6:13711779..13713289,2	K562	blood:
23	chr6:13709898..13716469-chr6:13809605..13815390,11	K562	blood:

No data

Variant related genes	Relation type
RANBP9	TF binding region
ENSG00000124523	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000252966	Chromatin interaction
ENSG00000233075	Chromatin interaction
ENSG00000112137	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000231485	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000050393	Chromatin interaction
ENSG00000225921	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs204241	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs204243	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs204246	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs204247	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs24023	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs368512	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs371729	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376024	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs379903	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs381560	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394312	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs396869	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418053	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420874	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427140	0.93[EUR][1000 genomes]
rs441116	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441125	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495572	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495633	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571676	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv883451	chr6:13704341-13728670	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv883452	chr6:13704341-13733565	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	esv3404065	chr6:13709573-13714171	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv3387564	chr6:13710598-13713146	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv3361820	chr6:13710773-13713121	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13708400-13713200	Active TSS	NHLF	lung
2	chr6:13708600-13713200	Active TSS	Brain Angular Gyrus	brain
3	chr6:13708800-13713200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:13708800-13713200	Active TSS	Ovary	ovary
5	chr6:13709000-13713200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:13709000-13713200	Active TSS	Fetal Intestine Small	intestine
7	chr6:13709000-13713200	Active TSS	Psoas Muscle	Psoas
8	chr6:13709200-13713200	Active TSS	Aorta	Aorta
9	chr6:13709200-13713200	Active TSS	Right Ventricle	heart
10	chr6:13709600-13713200	Active TSS	A549	lung
11	chr6:13709800-13713200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr6:13710000-13713200	Active TSS	Fetal Muscle Trunk	muscle
13	chr6:13711400-13713200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:13711400-13713200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:13712400-13713200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr6:13712400-13713200	Flanking Active TSS	HMEC	breast
17	chr6:13712400-13713200	Flanking Active TSS	HUVEC	blood vessel
18	chr6:13712400-13713200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr6:13712600-13713200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr6:13712600-13713200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr6:13712600-13713200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr6:13712600-13713200	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr6:13712600-13713200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr6:13712600-13713200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr6:13712600-13713200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:13712600-13713200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr6:13712600-13713200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr6:13712600-13713200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr6:13712600-13713200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr6:13712600-13713200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr6:13712600-13713200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:13712600-13713200	Flanking Active TSS	Liver	Liver
33	chr6:13712600-13713200	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr6:13712600-13713200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr6:13712600-13713200	Active TSS	Right Atrium	heart
36	chr6:13712600-13713200	Flanking Active TSS	GM12878-XiMat	blood
37	chr6:13712600-13713200	Flanking Active TSS	Hela-S3	cervix
38	chr6:13712600-13713200	Flanking Active TSS	HSMM	muscle
39	chr6:13712600-13713200	Flanking Active TSS	NH-A	brain
40	chr6:13712600-13713200	Flanking Active TSS	Osteobl	bone
41	chr6:13712600-13713400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:13712600-13713400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:13712600-13713400	Flanking Active TSS	Dnd41	blood
44	chr6:13712800-13713200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:13712800-13713200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:13712800-13713200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr6:13712800-13713200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr6:13712800-13713200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr6:13712800-13713200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:13712800-13713200	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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