Variant report

Variant	rs554209300
Chromosome Location	chr17:16879717-16879718
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	POLR2A	chr17:16879470-16879783	GM12878	blood:	n/a	n/a
2	MAX	chr17:16879145-16880773	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:16879106-16879788	GM12878	blood:	n/a	n/a
4	POU2F2	chr17:16879532-16879970	GM12878	blood:	n/a	n/a
5	POLR2A	chr17:16878230-16880821	GM12878	blood:	n/a	n/a
6	TBL1XR1	chr17:16878505-16880241	GM12878	blood:	n/a	n/a
7	SRF	chr17:16879559-16879881	GM12878	blood:	n/a	n/a
8	MAZ	chr17:16878412-16879990	GM12878	blood:	n/a	n/a
9	YY1	chr17:16879518-16879921	GM12892	blood:	n/a	n/a
10	BCL3	chr17:16879473-16880006	GM12878	blood:	n/a	n/a
11	STAT3	chr17:16879709-16880068	MCF10A-Er-Src	breast:	n/a	chr17:16879889-16879900
12	MTA3	chr17:16878010-16881023	GM12878	blood:	n/a	n/a
13	IKZF1	chr17:16878253-16880127	GM12878	blood:	n/a	n/a
14	FOXM1	chr17:16878167-16880028	GM12878	blood:	n/a	n/a
15	POLR2A	chr17:16878427-16879927	GM12878	blood:	n/a	n/a
16	POLR2A	chr17:16878985-16879919	GM12891	blood:	n/a	n/a
17	MTA3	chr17:16878127-16880599	GM12878	blood:	n/a	n/a
18	NFIC	chr17:16878293-16880132	GM12878	blood:	n/a	n/a
19	BCL11A	chr17:16879449-16879972	GM12878	blood:	n/a	n/a
20	TCF3	chr17:16879429-16879916	GM12878	blood:	n/a	n/a
21	YY1	chr17:16879557-16879934	K562	blood:	n/a	n/a
22	POLR2A	chr17:16878342-16880680	GM18505	blood:	n/a	n/a
23	STAT1	chr17:16879442-16879914	GM12878	blood:	n/a	n/a
24	RELA	chr17:16878366-16880312	GM12878	blood:	n/a	n/a
25	POLR2A	chr17:16879463-16879916	GM12891	blood:	n/a	n/a
26	STAT3	chr17:16878466-16880603	GM12878	blood:	n/a	chr17:16879276-16879288 chr17:16879889-16879900
27	RUNX3	chr17:16879399-16879941	GM12878	blood:	n/a	n/a
28	TCF3	chr17:16879485-16879812	GM12878	blood:	n/a	n/a
29	BHLHE40	chr17:16878364-16880280	GM12878	blood:	n/a	n/a
30	TAF1	chr17:16879481-16879961	GM12878	blood:	n/a	n/a
31	POU2F2	chr17:16879432-16879953	GM12878	blood:	n/a	n/a
32	ATF2	chr17:16879256-16880184	GM12878	blood:	n/a	n/a
33	CUX1	chr17:16878126-16879966	GM12878	blood:	n/a	n/a
34	NFATC1	chr17:16878386-16880024	GM12878	blood:	n/a	n/a
35	EBF1	chr17:16878510-16879933	GM12878	blood:	n/a	chr17:16879702-16879713
36	EP300	chr17:16878390-16880675	GM12878	blood:	n/a	chr17:16879297-16879311 chr17:16879298-16879312
37	ZNF143	chr17:16879625-16879825	GM12878	blood:	n/a	n/a
38	POLR2A	chr17:16878056-16880305	GM12892	blood:	n/a	n/a
39	PML	chr17:16879618-16879871	GM12878	blood:	n/a	n/a
40	CHD1	chr17:16878240-16880652	GM12878	blood:	n/a	n/a
41	FOS	chr17:16879705-16879991	MCF10A-Er-Src	breast:	n/a	chr17:16879833-16879844
42	YY1	chr17:16879496-16879914	GM12892	blood:	n/a	n/a
43	POLR2A	chr17:16878086-16880910	GM12892	blood:	n/a	n/a
44	FOS	chr17:16879702-16880012	HUVEC	blood vessel:	n/a	chr17:16879833-16879844
45	EP300	chr17:16878282-16880413	GM12878	blood:	n/a	chr17:16879297-16879311 chr17:16879298-16879312
46	POLR2A	chr17:16878062-16880885	GM12878	blood:	n/a	n/a
47	BCL3	chr17:16879532-16879889	GM12878	blood:	n/a	n/a
48	POLR2A	chr17:16877924-16880892	GM12892	blood:	n/a	n/a
49	WRNIP1	chr17:16878277-16879886	GM12878	blood:	n/a	n/a
50	NFIC	chr17:16878245-16880801	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16864871..16867780-chr17:16878608..16880115,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNFRSF13B-1	chr17:16879313-16880944	ENSG00000230709

Variant related genes	Relation type
TNFRSF13B	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2761948	chr17:16868561-16920568	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv543230	chr17:16878578-16892465	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16867400-16883800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:16873000-16880800	Enhancers	Fetal Thymus	thymus
3	chr17:16874200-16880000	Enhancers	Dnd41	blood
4	chr17:16875200-16885800	Enhancers	Primary B cells from cord blood	blood
5	chr17:16875800-16887200	Enhancers	Primary B cells from peripheral blood	blood
6	chr17:16878000-16882800	Flanking Active TSS	GM12878-XiMat	blood
7	chr17:16878400-16880600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr17:16878400-16883600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:16878600-16880200	Enhancers	Thymus	Thymus
10	chr17:16878600-16881600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr17:16878800-16884200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:16879600-16879800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr17:16879600-16879800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:16879600-16879800	Enhancers	Primary hematopoietic stem cells	blood
15	chr17:16879600-16879800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr17:16879600-16879800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:16879600-16879800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:16879600-16880200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr17:16879600-16880200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:16879600-16880200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr17:16879600-16880400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr17:16879600-16880400	Bivalent Enhancer	HUVEC	blood vessel
23	chr17:16879600-16880800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:16879600-16880800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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