Variant report

Variant	rs16864738
Chromosome Location	chr2:177797299-177797300
allele	G/T
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	FOXM1	chr2:177796458-177797429	GM12878	blood:	n/a	n/a
2	CHD2	chr2:177796441-177797400	GM12878	blood:	n/a	n/a
3	FOXP2	chr2:177796930-177797351	SK-N-MC	brain:	n/a	n/a
4	ELK1	chr2:177796677-177797323	GM12878	blood:	n/a	n/a
5	CUX1	chr2:177796246-177797318	GM12878	blood:	n/a	n/a
6	MAX	chr2:177796542-177797301	GM12878	blood:	n/a	chr2:177796718-177796727
7	UBTF	chr2:177797229-177797336	K562	blood:	n/a	n/a
8	BHLHE40	chr2:177796454-177798272	GM12878	blood:	n/a	chr2:177797165-177797174 chr2:177797158-177797179
9	RUNX3	chr2:177796332-177797349	GM12878	blood:	n/a	n/a
10	ZNF384	chr2:177797291-177797389	K562	blood:	n/a	n/a
11	POLR2A	chr2:177794408-177803203	K562	blood:	n/a	n/a
12	BHLHE40	chr2:177796521-177797395	K562	blood:	n/a	chr2:177797165-177797174 chr2:177797158-177797179
13	FOXM1	chr2:177796464-177797379	GM12878	blood:	n/a	n/a
14	EP300	chr2:177796439-177797311	GM12878	blood:	n/a	chr2:177796649-177796663 chr2:177796650-177796664 chr2:177796718-177796727 chr2:177796655-177796669 chr2:177796717-177796726 chr2:177796819-177796833 chr2:177796653-177796667
15	CHD1	chr2:177796373-177797776	GM12878	blood:	n/a	n/a
16	MXI1	chr2:177796165-177797571	GM12878	blood:	n/a	n/a
17	JUN	chr2:177795460-177797403	K562	blood:	n/a	chr2:177797009-177797021 chr2:177796718-177796726 chr2:177796717-177796726 chr2:177796718-177796725 chr2:177796718-177796727
18	EP300	chr2:177796017-177797352	K562	blood:	n/a	chr2:177796649-177796663 chr2:177796650-177796664 chr2:177796718-177796727 chr2:177796655-177796669 chr2:177796717-177796726 chr2:177796819-177796833 chr2:177796653-177796667
19	EP300	chr2:177796276-177797414	GM12878	blood:	n/a	chr2:177796649-177796663 chr2:177796650-177796664 chr2:177796718-177796727 chr2:177796655-177796669 chr2:177796717-177796726 chr2:177796819-177796833 chr2:177796653-177796667
20	NFIC	chr2:177796317-177797391	GM12878	blood:	n/a	n/a
21	MYC	chr2:177796506-177797343	K562	blood:	n/a	chr2:177796718-177796727
22	KAP1	chr2:177796503-177797354	U2OS	brain:	n/a	chr2:177796719-177796728 chr2:177796716-177796725
23	ZNF143	chr2:177796501-177797332	GM12878	blood:	n/a	n/a
24	NFIC	chr2:177796224-177797846	GM12878	blood:	n/a	n/a
25	ZNF384	chr2:177796137-177797536	GM12878	blood:	n/a	chr2:177797426-177797434
26	WRNIP1	chr2:177796688-177797464	GM12878	blood:	n/a	n/a
27	RUNX3	chr2:177796397-177797322	GM12878	blood:	n/a	n/a
28	POU2F2	chr2:177796409-177797332	GM12878	blood:	n/a	chr2:177796657-177796679 chr2:177796756-177796767
29	BRCA1	chr2:177797162-177797306	GM12878	blood:	n/a	n/a
30	STAT3	chr2:177796496-177797321	GM12878	blood:	n/a	chr2:177796717-177796726 chr2:177796824-177796835 chr2:177796718-177796727
31	CREB1	chr2:177796356-177797332	GM12878	blood:	n/a	n/a
32	POLR2A	chr2:177796500-177797379	SK-N-MC	brain:	n/a	n/a
33	ATF2	chr2:177796325-177797339	GM12878	blood:	n/a	n/a
34	USF2	chr2:177796629-177797343	GM12878	blood:	n/a	chr2:177797165-177797174 chr2:177797158-177797179
35	TBL1XR1	chr2:177796434-177797362	GM12878	blood:	n/a	n/a
36	JUND	chr2:177796458-177797305	K562	blood:	n/a	chr2:177797009-177797021 chr2:177796718-177796726 chr2:177796717-177796726 chr2:177796718-177796725 chr2:177796718-177796727 chr2:177796716-177796727

Variant related genes	Relation type
RNU6-187P	TF binding region

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16823462	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16864626	1.00[AMR][1000 genomes]
rs16864666	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16864695	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16864726	0.97[AFR][1000 genomes];1.00[AMR][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	nsv875448	chr2:177760005-177819108	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv875449	chr2:177775612-177835010	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv875450	chr2:177785155-177819108	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177796200-177797400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr2:177796200-177798200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:177796800-177797400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:177796800-177797400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr2:177797000-177797400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:177797000-177798000	Flanking Active TSS	GM12878-XiMat	blood
7	chr2:177797000-177799000	Weak transcription	K562	blood
8	chr2:177797000-177799200	Weak transcription	Fetal Heart	heart
9	chr2:177797000-177800800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:177797200-177797400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:177797200-177797600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:177797200-177797600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:177797200-177798200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr2:177797200-177799600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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