Variant report

Variant	rs7224437
Chromosome Location	chr17:60005440-60005441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:370)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr17:60004440-60005525	K562	blood:	n/a	n/a
2	TAF1	chr17:60005130-60005509	GM12892	blood:	n/a	n/a
3	POLR2A	chr17:60004247-60005712	HepG2	liver:	n/a	n/a
4	TFAP2C	chr17:60004576-60005452	Hela-S3	cervix:	n/a	chr17:60004929-60004944
5	MYBL2	chr17:60004625-60005612	HepG2	liver:	n/a	n/a
6	POLR2A	chr17:60004605-60005640	MCF-7	breast:	n/a	n/a
7	KAT2A	chr17:60005102-60005442	GM12878	blood:	n/a	n/a
8	TEAD4	chr17:60004525-60005853	A549	lung:	n/a	n/a
9	MYBL2	chr17:60004312-60005951	HepG2	liver:	n/a	n/a
10	YY1	chr17:60004914-60005591	SK-N-SH_RA	brain:	n/a	n/a
11	MAX	chr17:60004413-60005538	K562	blood:	n/a	n/a
12	STAT3	chr17:60005116-60005744	GM12878	blood:	n/a	chr17:60005673-60005681
13	MAX	chr17:60004520-60005648	ECC-1	luminal epithelium:	n/a	chr17:60005556-60005565
14	POLR2A	chr17:60004476-60005541	H1-hESC	embryonic stem cell:	n/a	n/a
15	HCFC1	chr17:60003695-60006237	Hela-S3	cervix:	n/a	n/a
16	HMGN3	chr17:60004922-60005505	K562	blood:	n/a	n/a
17	POLR2A	chr17:60004450-60005679	HCT-116	colon:	n/a	n/a
18	MBD4	chr17:60004394-60005773	HepG2	liver:	n/a	n/a
19	SIN3AK20	chr17:60004486-60005662	SK-N-SH	brain:	n/a	n/a
20	ATF3	chr17:60004736-60005530	A549	lung:	n/a	n/a
21	POLR2A	chr17:60004489-60005668	K562	blood:	n/a	n/a
22	TCF7L2	chr17:60004805-60005519	HCT-116	colon:	n/a	n/a
23	TAF1	chr17:60004494-60005647	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr17:60004279-60005823	HUVEC	blood vessel:	n/a	n/a
25	E2F6	chr17:60004752-60005632	K562	blood:	n/a	chr17:60005206-60005217 chr17:60005400-60005409 chr17:60005262-60005273
26	SIN3AK20	chr17:60004974-60005447	H1-hESC	embryonic stem cell:	n/a	n/a
27	REST	chr17:60004353-60005757	H1-neurons	neurons:	n/a	chr17:60005506-60005514
28	TAF1	chr17:60004773-60005499	HepG2	liver:	n/a	n/a
29	CEBPB	chr17:60005151-60005739	HepG2	liver:	n/a	chr17:60005553-60005564 chr17:60005460-60005473
30	SIN3AK20	chr17:60004629-60005609	PANC-1	pancreas:	n/a	n/a
31	CHD2	chr17:60004779-60005675	HepG2	liver:	n/a	n/a
32	GTF2F1	chr17:60004577-60005719	Hela-S3	cervix:	n/a	n/a
33	GTF2B	chr17:60004726-60005550	K562	blood:	n/a	n/a
34	MAX	chr17:60004409-60005604	ECC-1	luminal epithelium:	n/a	chr17:60005556-60005565
35	FOXM1	chr17:60004713-60005522	GM12878	blood:	n/a	n/a
36	ELF1	chr17:60004905-60005452	A549	lung:	n/a	n/a
37	REST	chr17:60005076-60005450	SK-N-SH	brain:	n/a	n/a
38	REST	chr17:60004421-60005741	A549	lung:	n/a	chr17:60005506-60005514
39	RCOR1	chr17:60004433-60005757	K562	blood:	n/a	n/a
40	POLR2A	chr17:60004226-60005735	GM12891	blood:	n/a	n/a
41	E2F6	chr17:60005239-60005441	K562	blood:	n/a	chr17:60005400-60005409 chr17:60005262-60005273
42	POLR2A	chr17:60004657-60005697	U87	brain:	n/a	n/a
43	STAT5A	chr17:60004970-60005474	GM12878	blood:	n/a	n/a
44	ZMIZ1	chr17:60004775-60005479	K562	blood:	n/a	n/a
45	POLR2A	chr17:60004537-60005561	K562	blood:	n/a	n/a
46	CUX1	chr17:60005010-60005645	GM12878	blood:	n/a	n/a
47	POLR2A	chr17:60004373-60005900	PFSK-1	brain:	n/a	n/a
48	POLR2A	chr17:60004294-60005866	Raji	blood:	n/a	n/a
49	NFIC	chr17:60004709-60005694	HepG2	liver:	n/a	n/a
50	POLR2A	chr17:60004187-60005725	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:60003720..60006070-chr17:60032703..60035089,4	MCF-7	breast:
2	chr17:59487584..59490320-chr17:60003961..60006356,2	MCF-7	breast:
3	chr17:59967952..59972166-chr17:60003800..60006338,4	MCF-7	breast:
4	chr17:60004037..60006603-chr7:148892637..148894393,2	MCF-7	breast:
5	chr11:62609082..62609619-chr17:60005036..60005956,2	NB4	blood:
6	chr17:59939694..59942407-chr17:60003159..60006084,4	K562	blood:
7	chr17:60003458..60007739-chr17:60031552..60035376,4	MCF-7	breast:
8	chr17:59959753..59962989-chr17:60003686..60006854,4	MCF-7	breast:
9	chr1:206858266..206859149-chr17:60004563..60005538,2	Hela-S3	cervix:
10	chr17:60004211..60007034-chr17:60081016..60083481,3	MCF-7	breast:
11	chr17:59939106..59942463-chr17:60003505..60006582,4	MCF-7	breast:
12	chr1:204380301..204380929-chr17:60005262..60005771,2	Hela-S3	cervix:
13	chr17:60003486..60006277-chr17:60141285..60143515,2	K562	blood:
14	chr17:60005081..60007593-chr3:197685672..197687423,2	MCF-7	breast:
15	chr17:59939071..59942892-chr17:60002944..60006795,10	MCF-7	breast:
16	chr17:60004432..60006975-chrX:153598237..153599773,2	MCF-7	breast:
17	chr17:59939694..59942713-chr17:60003159..60007024,4	K562	blood:
18	chr17:60002473..60006196-chr17:60142332..60145548,5	MCF-7	breast:
19	chr17:60003987..60006563-chr6:30582839..30584974,2	MCF-7	breast:
20	chr16:70412278..70414486-chr17:60004606..60007094,2	MCF-7	breast:
21	chr17:59951279..59952912-chr17:60004615..60006533,2	MCF-7	breast:
22	chr17:60004093..60006287-chr20:45946322..45948164,2	MCF-7	breast:
23	chr17:60002671..60006640-chr17:60140695..60145461,16	MCF-7	breast:

No data

Variant related genes	Relation type
INTS2	TF binding region
ENSG00000162889	Chromatin interaction
ENSG00000202361	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000114473	Chromatin interaction
ENSG00000267882	Chromatin interaction
ENSG00000108506	Chromatin interaction
ENSG00000242398	Chromatin interaction
ENSG00000158615	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000170265	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000185621	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000108510	Chromatin interaction
ENSG00000136492	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10401014	0.85[AMR][1000 genomes]
rs9896768	0.85[AMR][1000 genomes]
rs9899042	0.85[AMR][1000 genomes]
rs9905888	0.85[AMR][1000 genomes]
rs9908865	0.90[ASW][hapmap];0.91[LWK][hapmap];0.83[MKK][hapmap];0.83[YRI][hapmap]
rs9916598	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 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	chr17:60003800-60005600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr17:60003800-60005600	Active TSS	Fetal Kidney	kidney
3	chr17:60004000-60005600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr17:60004000-60005600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr17:60004000-60005600	Active TSS	NHLF	lung
6	chr17:60004000-60005800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:60004000-60005800	Active TSS	Right Ventricle	heart
8	chr17:60004000-60006000	Active TSS	K562	blood
9	chr17:60004200-60005600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr17:60004200-60005600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:60004200-60005600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:60004200-60005600	Active TSS	HSMM	muscle
13	chr17:60004200-60005600	Active TSS	NHDF-Ad	bronchial
14	chr17:60004200-60005800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:60004200-60005800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr17:60004200-60005800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:60004200-60005800	Active TSS	Fetal Muscle Trunk	muscle
18	chr17:60004200-60005800	Active TSS	Psoas Muscle	Psoas
19	chr17:60004200-60005800	Active TSS	Right Atrium	heart
20	chr17:60004200-60006000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr17:60004200-60006200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr17:60004400-60005600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:60004400-60005600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:60004400-60005600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr17:60004400-60005600	Active TSS	Fetal Intestine Large	intestine
26	chr17:60004400-60005600	Active TSS	Left Ventricle	heart
27	chr17:60004400-60005600	Active TSS	GM12878-XiMat	blood
28	chr17:60004400-60005800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr17:60004400-60005800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:60004400-60006000	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr17:60004600-60005600	Active TSS	H1 Cell Line	embryonic stem cell
32	chr17:60004600-60005600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr17:60004600-60005600	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr17:60004600-60005600	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr17:60004600-60005600	Active TSS	Brain Anterior Caudate	brain
36	chr17:60004600-60005600	Active TSS	Brain Cingulate Gyrus	brain
37	chr17:60004600-60005600	Active TSS	Brain Hippocampus Middle	brain
38	chr17:60004600-60005600	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr17:60004600-60005600	Active TSS	Colon Smooth Muscle	Colon
40	chr17:60004600-60005600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr17:60004600-60005600	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr17:60004600-60005600	Active TSS	Thymus	Thymus
43	chr17:60004600-60005600	Active TSS	A549	lung
44	chr17:60004600-60005800	Active TSS	Brain Germinal Matrix	brain
45	chr17:60004600-60005800	Active TSS	Colonic Mucosa	Colon
46	chr17:60004600-60005800	Active TSS	Fetal Lung	lung
47	chr17:60004600-60005800	Active TSS	Placenta Amnion	Placenta Amnion
48	chr17:60004600-60006000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr17:60004600-60006000	Active TSS	Duodenum Mucosa	Duodenum
50	chr17:60004600-60006000	Active TSS	Fetal Intestine Small	intestine

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