Variant report

Variant	rs60909508
Chromosome Location	chr14:21249509-21249510
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	MTA3	chr14:21248919-21249672	GM12878	blood:	n/a	n/a
2	RUNX3	chr14:21248885-21249656	GM12878	blood:	n/a	n/a
3	NFIC	chr14:21248842-21249625	GM12878	blood:	n/a	n/a
4	EP300	chr14:21248981-21249687	GM12878	blood:	n/a	chr14:21249073-21249081
5	STAT5A	chr14:21248901-21249548	GM12878	blood:	n/a	chr14:21249156-21249164
6	MAX	chr14:21249082-21249554	GM12878	blood:	n/a	n/a
7	RCOR1	chr14:21248997-21249573	GM12878	blood:	n/a	n/a
8	FOXM1	chr14:21248806-21249564	GM12878	blood:	n/a	n/a
9	FOXM1	chr14:21248966-21249689	GM12878	blood:	n/a	n/a
10	IKZF1	chr14:21248994-21249583	GM12878	blood:	n/a	n/a
11	POLR2A	chr14:21249092-21249522	GM12891	blood:	n/a	n/a
12	CEBPB	chr14:21248872-21249547	GM12878	blood:	n/a	n/a
13	POLR2A	chr14:21249049-21249663	GM12892	blood:	n/a	n/a
14	RUNX3	chr14:21248918-21249741	GM12878	blood:	n/a	n/a
15	SPI1	chr14:21248981-21249701	HL-60	blood:	n/a	chr14:21249178-21249187
16	MTA3	chr14:21248934-21249682	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:21248946-21249724	GM12892	blood:	n/a	n/a
18	ETS1	chr14:21248947-21249635	GM12878	blood:	n/a	chr14:21249157-21249170
19	POLR2A	chr14:21248439-21250889	GM12891	blood:	n/a	n/a
20	NFATC1	chr14:21248897-21249612	GM12878	blood:	n/a	n/a
21	NFIC	chr14:21248845-21249621	GM12878	blood:	n/a	n/a
22	PML	chr14:21248915-21249610	GM12878	blood:	n/a	n/a
23	STAT3	chr14:21249012-21249544	GM12878	blood:	n/a	chr14:21249156-21249164
24	SPI1	chr14:21248696-21249718	GM12878	blood:	n/a	chr14:21249178-21249187

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21175158..21177041-chr14:21248613..21250214,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258810	TF binding region
ENSG00000258451	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17096637	1.00[EUR][1000 genomes]
rs17096638	1.00[EUR][1000 genomes]
rs35226165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4982366	1.00[EUR][1000 genomes]
rs56928205	1.00[EUR][1000 genomes]
rs57459416	1.00[EUR][1000 genomes]
rs57763153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58418541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58984932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59183792	1.00[EUR][1000 genomes]
rs59793479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59845330	1.00[EUR][1000 genomes]
rs73574048	1.00[EUR][1000 genomes]
rs73574054	1.00[EUR][1000 genomes]
rs73576004	1.00[EUR][1000 genomes]
rs73578052	1.00[AMR][1000 genomes]
rs73578056	1.00[AMR][1000 genomes]
rs73578065	1.00[AMR][1000 genomes]
rs73582001	1.00[EUR][1000 genomes]
rs74034604	1.00[EUR][1000 genomes]
rs74034609	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
8	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21239400-21249800	Weak transcription	Fetal Kidney	kidney
2	chr14:21244600-21249800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:21248200-21250000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:21248200-21250000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr14:21248200-21251200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr14:21248200-21251800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr14:21248400-21249800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr14:21248400-21250000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr14:21248400-21250000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:21248400-21250000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr14:21248400-21250800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:21248600-21250200	Enhancers	Fetal Intestine Large	intestine
13	chr14:21248600-21251400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr14:21248800-21249800	Active TSS	GM12878-XiMat	blood
15	chr14:21248800-21250000	Active TSS	Primary monocytes fromperipheralblood	blood
16	chr14:21248800-21250800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr14:21249000-21249600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr14:21249000-21249600	Enhancers	K562	blood
19	chr14:21249000-21249600	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr14:21249000-21249800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:21249000-21250400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr14:21249000-21250800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr14:21249000-21251000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:21249000-21251000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:21249000-21251000	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr14:21249000-21251000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr14:21249000-21251000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:21249000-21251200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr14:21249000-21251200	Enhancers	Fetal Heart	heart
30	chr14:21249000-21251200	Enhancers	HUVEC	blood vessel
31	chr14:21249000-21251600	Flanking Active TSS	Dnd41	blood
32	chr14:21249200-21249600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:21249200-21249600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr14:21249200-21249600	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr14:21249200-21249600	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr14:21249200-21249600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr14:21249200-21249600	Flanking Active TSS	Thymus	Thymus
38	chr14:21249200-21250000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr14:21249200-21250000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:21249200-21250400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr14:21249200-21250600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr14:21249200-21250600	Active TSS	Fetal Muscle Leg	muscle
43	chr14:21249200-21250800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr14:21249200-21250800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr14:21249200-21250800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr14:21249200-21250800	Flanking Active TSS	Fetal Thymus	thymus
47	chr14:21249200-21251000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr14:21249200-21251000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr14:21249200-21251000	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr14:21249200-21251000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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