Variant report

Variant	rs2817867
Chromosome Location	chr1:71512160-71512161
allele	C/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	ZNF143	chr1:71511999-71512416	K562	blood:	n/a	n/a
2	ZC3H11A	chr1:71512083-71512177	K562	blood:	n/a	n/a
3	POLR2A	chr1:71512040-71513854	K562	blood:	n/a	n/a
4	E2F6	chr1:71512127-71513689	K562	blood:	n/a	chr1:71513534-71513543 chr1:71512854-71512869 chr1:71513390-71513400 chr1:71513430-71513440
5	YY1	chr1:71512114-71512548	K562	blood:	n/a	n/a
6	MYC	chr1:71512002-71513714	K562	blood:	n/a	chr1:71513532-71513542
7	CEBPB	chr1:71512160-71512281	K562	blood:	n/a	n/a
8	MYC	chr1:71511963-71513739	K562	blood:	n/a	chr1:71513532-71513542
9	GTF2B	chr1:71512059-71512334	K562	blood:	n/a	n/a
10	TAF1	chr1:71512097-71512460	K562	blood:	n/a	n/a
11	POLR2A	chr1:71511885-71512527	SK-N-MC	brain:	n/a	n/a
12	TBL1XR1	chr1:71512020-71512588	K562	blood:	n/a	n/a
13	POLR2A	chr1:71511975-71512406	K562	blood:	n/a	n/a
14	POLR2A	chr1:71511925-71512517	K562	blood:	n/a	n/a
15	POLR2A	chr1:71511962-71513787	K562	blood:	n/a	n/a
16	ZNF384	chr1:71511268-71512530	K562	blood:	n/a	n/a
17	RCOR1	chr1:71512005-71513897	K562	blood:	n/a	n/a
18	UBTF	chr1:71511986-71513751	K562	blood:	n/a	n/a
19	CCNT2	chr1:71511971-71513807	K562	blood:	n/a	chr1:71513534-71513543 chr1:71512342-71512351
20	TBP	chr1:71511997-71513975	K562	blood:	n/a	n/a
21	HEY1	chr1:71512068-71512548	K562	blood:	n/a	n/a
22	UBTF	chr1:71512011-71513650	K562	blood:	n/a	n/a
23	POLR2A	chr1:71511957-71513949	K562	blood:	n/a	n/a
24	TAF1	chr1:71511972-71512502	K562	blood:	n/a	n/a
25	POLR2A	chr1:71510621-71513837	K562	blood:	n/a	n/a
26	CBX3	chr1:71511945-71512532	K562	blood:	n/a	n/a
27	MAX	chr1:71511969-71512499	K562	blood:	n/a	n/a
28	HCFC1	chr1:71512024-71512393	K562	blood:	n/a	n/a
29	POLR2A	chr1:71511798-71514436	SK-N-MC	brain:	n/a	n/a
30	RFX5	chr1:71512020-71512276	K562	blood:	n/a	n/a
31	HEY1	chr1:71511981-71512498	K562	blood:	n/a	n/a
32	PML	chr1:71511919-71512467	K562	blood:	n/a	n/a
33	POLR2A	chr1:71512078-71512276	HepG2	liver:	n/a	n/a
34	RCOR1	chr1:71512060-71512992	K562	blood:	n/a	n/a
35	E2F6	chr1:71512104-71513672	H1-hESC	embryonic stem cell:	n/a	chr1:71513534-71513543 chr1:71512854-71512869 chr1:71513390-71513400 chr1:71513430-71513440
36	POLR2A	chr1:71511983-71513803	K562	blood:	n/a	n/a
37	E2F6	chr1:71512150-71513678	K562	blood:	n/a	chr1:71513534-71513543 chr1:71512854-71512869 chr1:71513390-71513400 chr1:71513430-71513440
38	POLR2A	chr1:71512030-71512600	K562	blood:	n/a	n/a
39	ZMIZ1	chr1:71512071-71512435	K562	blood:	n/a	n/a
40	MAZ	chr1:71512047-71513946	K562	blood:	n/a	chr1:71513532-71513542
41	MAX	chr1:71512005-71513709	K562	blood:	n/a	chr1:71513532-71513542
42	BHLHE40	chr1:71512038-71514051	K562	blood:	n/a	chr1:71513319-71513335 chr1:71513322-71513338 chr1:71513407-71513423 chr1:71513352-71513368 chr1:71513419-71513435
43	YY1	chr1:71512094-71513640	K562	blood:	n/a	chr1:71513364-71513375 chr1:71513412-71513426 chr1:71513421-71513432 chr1:71513329-71513340 chr1:71513534-71513543 chr1:71513328-71513337 chr1:71513322-71513336 chr1:71513360-71513371 chr1:71513319-71513333 chr1:71513423-71513437 chr1:71513426-71513435 chr1:71513423-71513432
44	JUND	chr1:71511931-71514040	K562	blood:	n/a	n/a
45	GTF2F1	chr1:71512125-71512341	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:71510894..71514340-chr1:71523075..71528309,6	K562	blood:
2	chr1:71240165..71242218-chr1:71510173..71512188,2	K562	blood:
3	chr1:70978338..70980257-chr1:71510997..71512703,2	K562	blood:
4	chr1:71511577..71513859-chr1:71544920..71548466,4	K562	blood:
5	chr1:71113661..71115986-chr1:71510232..71513062,3	K562	blood:
6	chr1:71002710..71005624-chr1:71510534..71512998,2	K562	blood:
7	chr1:70876526..70879847-chr1:71510519..71513789,3	K562	blood:

Variant related genes	Relation type
ZRANB2-AS1	TF binding region
ENSG00000229956	Chromatin interaction
ENSG00000116761	Chromatin interaction
ENSG00000235079	Chromatin interaction
ENSG00000132485	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10493482	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11577923	0.81[AMR][1000 genomes]
rs11578414	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11800532	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11801478	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11808123	0.81[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12402425	1.00[CEU][hapmap];0.83[GIH][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12409826	1.00[CEU][hapmap];0.83[GIH][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1418448	0.86[EUR][1000 genomes]
rs17090804	1.00[CEU][hapmap];0.83[GIH][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17090955	0.81[AMR][1000 genomes]
rs2744901	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2744903	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2744909	0.93[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2796200	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57667850	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59019236	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6699719	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72942304	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7528792	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7545836	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7554527	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9425051	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases
3	esv1850593	chr1:71444149-71514969	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv871242	chr1:71481050-71519326	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71508800-71512400	Active TSS	K562	blood
2	chr1:71509000-71512200	Active TSS	Adipose Nuclei	Adipose
3	chr1:71510600-71512200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
4	chr1:71510600-71513800	Active TSS	Aorta	Aorta
5	chr1:71510600-71514000	Active TSS	NHDF-Ad	bronchial
6	chr1:71510800-71512200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
7	chr1:71510800-71514200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:71511000-71512400	Active TSS	Colon Smooth Muscle	Colon
9	chr1:71511000-71513600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
10	chr1:71511000-71514000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:71511000-71514200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:71511000-71514400	Bivalent/Poised TSS	Fetal Kidney	kidney
13	chr1:71511200-71512200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
14	chr1:71511200-71512200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
15	chr1:71511200-71512400	Active TSS	Gastric	stomach
16	chr1:71511200-71512600	Bivalent/Poised TSS	Colonic Mucosa	Colon
17	chr1:71511400-71513400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
18	chr1:71511400-71514200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:71511600-71512200	Active TSS	Pancreas	Pancrea
20	chr1:71512000-71512200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:71512000-71512200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr1:71512000-71512200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
23	chr1:71512000-71512200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
24	chr1:71512000-71512200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr1:71512000-71512200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
26	chr1:71512000-71512200	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:71512000-71512200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
28	chr1:71512000-71512200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:71512000-71512200	Flanking Bivalent TSS/Enh	Fetal Heart	heart
30	chr1:71512000-71512200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
31	chr1:71512000-71512200	Active TSS	Right Atrium	heart
32	chr1:71512000-71512200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
33	chr1:71512000-71512200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
34	chr1:71512000-71512400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr1:71512000-71512400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr1:71512000-71512400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:71512000-71512400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
38	chr1:71512000-71512400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:71512000-71512400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
40	chr1:71512000-71512400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr1:71512000-71512600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
42	chr1:71512000-71512600	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
43	chr1:71512000-71512600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:71512000-71512600	Bivalent/Poised TSS	Psoas Muscle	Psoas
45	chr1:71512000-71512600	Bivalent Enhancer	A549	lung
46	chr1:71512000-71512800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:71512000-71513000	Bivalent Enhancer	Fetal Brain Male	brain
48	chr1:71512000-71513000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr1:71512000-71513200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
50	chr1:71512000-71513200	Flanking Bivalent TSS/Enh	Placenta	Placenta

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