Variant report

Variant	rs71248603
Chromosome Location	chr16:70898727-70898728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr16:70898364-70899452	K562	blood:	n/a	chr16:70898873-70898887
2	ZC3H11A	chr16:70898382-70899199	K562	blood:	n/a	n/a
3	ATF3	chr16:70898546-70898968	K562	blood:	n/a	n/a
4	ARID3A	chr16:70898638-70899114	K562	blood:	n/a	n/a
5	TBL1XR1	chr16:70898456-70899487	K562	blood:	n/a	n/a
6	FOS	chr16:70898407-70898913	MCF10A-Er-Src	breast:	n/a	n/a
7	ATF1	chr16:70898619-70899190	K562	blood:	n/a	n/a
8	NR2F2	chr16:70898545-70899059	K562	blood:	n/a	n/a
9	CCNT2	chr16:70898624-70899080	K562	blood:	n/a	n/a
10	GATA2	chr16:70898573-70899000	K562	blood:	n/a	n/a
11	POLR2A	chr16:70898648-70898946	K562	blood:	n/a	n/a
12	RCOR1	chr16:70898324-70899423	K562	blood:	n/a	n/a
13	CEBPB	chr16:70898275-70899134	K562	blood:	n/a	chr16:70898381-70898392
14	CEBPD	chr16:70898506-70899109	K562	blood:	n/a	n/a
15	ZMIZ1	chr16:70898517-70899012	K562	blood:	n/a	n/a
16	BATF	chr16:70898626-70898920	GM12878	blood:	n/a	chr16:70898733-70898744
17	GABPA	chr16:70898602-70898929	K562	blood:	n/a	n/a
18	FOSL1	chr16:70898602-70898943	K562	blood:	n/a	chr16:70898735-70898746
19	UBTF	chr16:70898708-70899061	K562	blood:	n/a	n/a
20	FOSL1	chr16:70898622-70898899	K562	blood:	n/a	chr16:70898735-70898746
21	MAFK	chr16:70898447-70899572	K562	blood:	n/a	n/a
22	TBP	chr16:70898662-70898918	K562	blood:	n/a	n/a
23	MAX	chr16:70898624-70899035	K562	blood:	n/a	n/a
24	KAP1	chr16:70898386-70899058	K562	blood:	n/a	n/a
25	HMGN3	chr16:70898650-70898924	K562	blood:	n/a	n/a
26	FOS	chr16:70898621-70898924	MCF10A-Er-Src	breast:	n/a	n/a
27	MYC	chr16:70898647-70899067	K562	blood:	n/a	n/a
28	EP300	chr16:70898388-70899497	K562	blood:	n/a	chr16:70898556-70898566
29	HDAC2	chr16:70898596-70898911	K562	blood:	n/a	n/a
30	BACH1	chr16:70898321-70899349	K562	blood:	n/a	n/a
31	USF2	chr16:70898468-70899228	K562	blood:	n/a	n/a
32	YY1	chr16:70898687-70898860	K562	blood:	n/a	n/a
33	SMC3	chr16:70898719-70899096	K562	blood:	n/a	n/a
34	FOS	chr16:70898640-70898918	MCF10A-Er-Src	breast:	n/a	n/a
35	MAZ	chr16:70898636-70899000	K562	blood:	n/a	n/a
36	STAT5A	chr16:70898510-70899081	K562	blood:	n/a	n/a
37	TEAD4	chr16:70898291-70899270	K562	blood:	n/a	n/a
38	RUNX3	chr16:70898620-70898928	GM12878	blood:	n/a	n/a
39	MAX	chr16:70898600-70899140	K562	blood:	n/a	n/a
40	ZNF274	chr16:70898427-70899986	K562	blood:	n/a	n/a
41	TAL1	chr16:70898426-70899618	K562	blood:	n/a	n/a
42	SMARCB1	chr16:70898313-70899384	K562	blood:	n/a	n/a
43	EP300	chr16:70898363-70899101	K562	blood:	n/a	chr16:70898556-70898566 chr16:70898378-70898392
44	UBTF	chr16:70898652-70899258	K562	blood:	n/a	n/a
45	REST	chr16:70898603-70898985	K562	blood:	n/a	n/a
46	RCOR1	chr16:70898415-70899182	K562	blood:	n/a	n/a
47	BHLHE40	chr16:70898649-70899144	K562	blood:	n/a	n/a
48	EP300	chr16:70898679-70898798	GM12878	blood:	n/a	n/a
49	GATA2	chr16:70898519-70899082	K562	blood:	n/a	n/a
50	MXI1	chr16:70898637-70899285	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70892742..70895485-chr16:70897161..70899816,2	MCF-7	breast:
2	chr16:70897651..70899575-chr16:70902607..70905321,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251700	TF binding region
HYDIN	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1394574	1.00[ASN][1000 genomes]
rs1532830	1.00[ASN][1000 genomes]
rs1532832	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1798318	1.00[ASN][1000 genomes]
rs1827682	1.00[ASN][1000 genomes]
rs2502687	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2938742	1.00[ASN][1000 genomes]
rs55643938	0.85[AFR][1000 genomes]
rs55866069	0.93[EUR][1000 genomes]
rs6416703	1.00[ASN][1000 genomes]
rs7185537	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv916160	chr16:70809280-71120138	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	esv2757641	chr16:70833949-71200049	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv1057834	chr16:70842097-71075615	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	esv2446050	chr16:70845377-71202717	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1057681	chr16:70846071-71142397	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv2762121	chr16:70846071-71202797	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	esv2763140	chr16:70846071-71202797	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	esv18746	chr16:70847248-71202529	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv977996	chr16:70848125-71201713	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv1065452	chr16:70848374-71168820	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv1067462	chr16:70848374-71201367	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv542943	chr16:70848374-71201367	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	nsv1059620	chr16:70848374-71237055	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
18	nsv542944	chr16:70848374-71237055	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
19	nsv870263	chr16:70848593-71201134	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
20	nsv1063585	chr16:70854381-70951556	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv1067305	chr16:70854381-71022529	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv1057278	chr16:70854381-71142397	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv1066534	chr16:70854381-71143055	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv1063374	chr16:70855190-71205896	Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
25	nsv533443	chr16:70860486-71196477	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
26	nsv817736	chr16:70871031-70913984	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
27	nsv1056436	chr16:70887374-71201367	Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
28	nsv1059996	chr16:70893748-70930637	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
29	nsv1060148	chr16:70896033-71039315	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70880800-70906600	Weak transcription	Fetal Kidney	kidney
2	chr16:70883800-70902200	Weak transcription	Fetal Brain Male	brain
3	chr16:70883800-70904200	Weak transcription	Pancreas	Pancrea
4	chr16:70883800-70906400	Weak transcription	Brain Substantia Nigra	brain
5	chr16:70884400-70898800	Weak transcription	Brain Anterior Caudate	brain
6	chr16:70884400-70898800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr16:70884400-70899800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr16:70884600-70902000	Weak transcription	Brain Angular Gyrus	brain
9	chr16:70894200-70902400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr16:70895200-70899000	Weak transcription	Right Atrium	heart
11	chr16:70896200-70904200	Weak transcription	Fetal Stomach	stomach
12	chr16:70896400-70899000	Weak transcription	Fetal Brain Female	brain
13	chr16:70896800-70904400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr16:70897000-70899600	Weak transcription	Brain Hippocampus Middle	brain
15	chr16:70897000-70899800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:70897000-70905000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:70897200-70899400	Weak transcription	Brain Germinal Matrix	brain
18	chr16:70897200-70904200	Weak transcription	Fetal Intestine Small	intestine
19	chr16:70897400-70906600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr16:70898400-70899400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:70898400-70899400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr16:70898400-70899400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr16:70898400-70900000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:70898600-70899000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr16:70898600-70899400	Flanking Active TSS	K562	blood
26	chr16:70898600-70899800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:70898600-70905400	Weak transcription	Stomach Smooth Muscle	stomach

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