Variant report

Variant	rs17105315
Chromosome Location	chr14:25045608-25045609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr14:25045255-25045899	HL-60	blood:	n/a	n/a
2	SPI1	chr14:25045594-25045856	GM12891	blood:	n/a	chr14:25045795-25045804 chr14:25045794-25045807
3	POLR2A	chr14:25044381-25046418	HL-60	blood:	n/a	n/a
4	MAX	chr14:25044895-25046398	NB4	blood:	n/a	chr14:25045023-25045034 chr14:25045020-25045035 chr14:25045023-25045034 chr14:25045023-25045033 chr14:25045024-25045033 chr14:25045023-25045032 chr14:25045023-25045034 chr14:25045022-25045037 chr14:25045019-25045038
5	POLR2A	chr14:25045206-25045770	HL-60	blood:	n/a	n/a
6	SPI1	chr14:25045181-25046045	HL-60	blood:	n/a	chr14:25045795-25045804 chr14:25045794-25045807 chr14:25045496-25045503
7	SPI1	chr14:25045598-25045861	GM12891	blood:	n/a	chr14:25045795-25045804 chr14:25045794-25045807
8	SPI1	chr14:25045480-25046012	HL-60	blood:	n/a	chr14:25045795-25045804 chr14:25045794-25045807 chr14:25045496-25045503

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:25045607-25045657	NT2-D1	testis:	n/a
2	chr14:25045607-25045657	PFSK-1	brain:	n/a
3	chr14:25045607-25045657	ProgFib	skin:	n/a
4	chr14:25045607-25045657	HCT-116	colon:	n/a
5	chr14:25045607-25045657	NHDF-neo	bronchial:	n/a
6	chr14:25045607-25045657	HNPCEpiC	eye:	n/a
7	chr14:25045607-25045657	PrEC	prostate:	n/a
8	chr14:25045607-25045657	HIPEpiC	eye:	n/a
9	chr14:25045607-25045657	GM12891	blood:	n/a
10	chr14:25045607-25045657	AoSMC	blood vessel:	n/a
11	chr14:25045607-25045657	SK-N-MC	brain:	n/a
12	chr14:25045607-25045657	HRE	kidney:	n/a
13	chr14:25045607-25045657	AG09319	gingival:	n/a
14	chr14:25045607-25045657	Jurkat	blood:	n/a
15	chr14:25045607-25045657	LNCaP	prostate:	n/a
16	chr14:25045607-25045657	GM06990	blood:	n/a
17	chr14:25045607-25045657	HL-60	blood:	n/a
18	chr14:25045607-25045657	BJ	skin:	n/a
19	chr14:25045607-25045657	RPTEC	kidney:	n/a
20	chr14:25045607-25045657	ovcar-3	ovarian:	n/a
21	chr14:25045607-25045657	HCM	heart:	n/a
22	chr14:25045607-25045657	SAEC	small airway:	n/a
23	chr14:25045607-25045657	A549	lung:	n/a
24	chr14:25045607-25045657	SK-N-SH_RA	brain:	n/a
25	chr14:25045607-25045657	AG04449	skin:	fetal
26	chr14:25045607-25045657	GM19239	blood:	n/a
27	chr14:25045607-25045657	HPAEpiC	pulmonary alveolar:	n/a
28	chr14:25045607-25045657	AG04450	lung:	fetal
29	chr14:25045607-25045657	HCPEpiC	choroid plexus:	n/a
30	chr14:25045607-25045657	PANC-1	pancreas:	n/a
31	chr14:25045607-25045657	NB4	blood:	n/a
32	chr14:25045607-25045657	HCF	heart:	n/a
33	chr14:25045607-25045657	SKMC	muscle:	n/a
34	chr14:25045607-25045657	IMR90	lung:	fetal
35	chr14:25045607-25045657	MCF10A-Er-Src	breast:	n/a
36	chr14:25045607-25045657	HRPEpiC	eye:	n/a
37	chr14:25045607-25045657	U87	brain:	n/a
38	chr14:25045607-25045657	Caco-2	colon:	n/a
39	chr14:25045607-25045657	GM12878	blood:	n/a
40	chr14:25045607-25045657	NH-A	brain:	n/a
41	chr14:25045607-25045657	HEK293	kidney:	embryo
42	chr14:25045607-25045657	HMEC	breast:	n/a
43	chr14:25045607-25045657	ECC-1	luminal epithelium:	n/a
44	chr14:25045607-25045657	HRCEpiC	kidney:	n/a
45	chr14:25045607-25045657	HAEpiC	amniotic membrane:	n/a
46	chr14:25045607-25045657	H1-hESC	embryonic stem cell:	embryo
47	chr14:25045607-25045657	K562	blood:	n/a
48	chr14:25045607-25045657	Hela-S3	cervix:	n/a
49	chr14:25045607-25045657	AG09309	skin:	n/a
50	chr14:25045607-25045657	BE2_C	brain:	n/a

Variant related genes	Relation type
CTSG	TF binding region
CTSG	CpG island

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11158813	0.83[EUR][1000 genomes]
rs11623400	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11624387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11627296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11629129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11844124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11851426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12147128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs12147169	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12147746	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs20545	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs2332400	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2332402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28479407	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34530338	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3759639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56871173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74036792	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs74039126	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74039131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74039134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74039181	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv510631	chr14:25045183-25172311	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25043200-25047200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:25043200-25047200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr14:25044000-25047400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr14:25044600-25046200	Enhancers	Primary hematopoietic stem cells	blood
5	chr14:25044800-25046400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:25044800-25051800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:25045200-25046000	Enhancers	Dnd41	blood
8	chr14:25045400-25045800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:25045400-25046000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:25045600-25046200	Enhancers	Fetal Thymus	thymus
11	chr14:25045600-25046200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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