Variant report

Variant	rs13339329
Chromosome Location	chr16:47501676-47501677
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	POLR2A	chr16:47501440-47501701	K562	blood:	n/a	n/a
2	MYC	chr16:47501395-47502429	K562	blood:	n/a	n/a
3	MAFK	chr16:47501445-47502403	K562	blood:	n/a	chr16:47501613-47501624 chr16:47501613-47501624
4	SMARCA4	chr16:47501197-47502347	K562	blood:	n/a	n/a
5	ARID3A	chr16:47500293-47502483	K562	blood:	n/a	n/a
6	GATA1	chr16:47501181-47502378	PBDE	blood:	n/a	n/a
7	MYC	chr16:47501602-47502326	K562	blood:	n/a	n/a
8	POLR2A	chr16:47501447-47501852	K562	blood:	n/a	n/a
9	CCNT2	chr16:47501623-47502340	K562	blood:	n/a	n/a
10	TEAD4	chr16:47501459-47502442	K562	blood:	n/a	n/a
11	ZMIZ1	chr16:47501596-47502329	K562	blood:	n/a	n/a
12	TEAD4	chr16:47501354-47502455	K562	blood:	n/a	n/a
13	IRF1	chr16:47501551-47502376	K562	blood:	n/a	chr16:47501722-47501738
14	EP300	chr16:47501456-47502466	K562	blood:	n/a	chr16:47501601-47501608
15	TAL1	chr16:47501440-47502460	K562	blood:	n/a	n/a
16	GATA2	chr16:47501479-47502443	K562	blood:	n/a	n/a
17	CUX1	chr16:47501411-47501731	K562	blood:	n/a	n/a
18	GATA1	chr16:47501108-47503255	K562	blood:	n/a	chr16:47501119-47501126 chr16:47501112-47501133 chr16:47501119-47501126 chr16:47501115-47501131 chr16:47501116-47501126 chr16:47501119-47501126 chr16:47501118-47501128
19	TBL1XR1	chr16:47501428-47502463	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:47500719..47503610-chr16:47510639..47513571,4	K562	blood:
2	chr16:47416227..47418087-chr16:47500282..47502102,2	K562	blood:
3	chr16:47500342..47506721-chr16:47514207..47520673,8	K562	blood:
4	chr16:47493966..47496755-chr16:47501403..47504796,3	MCF-7	breast:
5	chr16:47165353..47167030-chr16:47501273..47503652,2	K562	blood:
6	chr16:47494278..47496656-chr16:47499941..47502861,2	MCF-7	breast:
7	chr16:47500040..47503767-chr16:47514818..47518136,4	K562	blood:
8	chr16:47177492..47179325-chr16:47500185..47502883,2	K562	blood:

Variant related genes	Relation type
ITFG1	TF binding region
ENSG00000260281	Chromatin interaction
ENSG00000102893	Chromatin interaction
ENSG00000129636	Chromatin interaction
ENSG00000171208	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs12102280	1.00[AFR][1000 genomes]
rs12103136	1.00[AFR][1000 genomes]
rs13329876	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13331194	1.00[AFR][1000 genomes]
rs13331276	1.00[AFR][1000 genomes]
rs13332687	1.00[AFR][1000 genomes]
rs13332822	1.00[AFR][1000 genomes]
rs13334553	1.00[AFR][1000 genomes]
rs13334954	1.00[AFR][1000 genomes]
rs13335589	1.00[AFR][1000 genomes]
rs13336440	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13336864	1.00[AFR][1000 genomes]
rs13337909	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13338192	1.00[AFR][1000 genomes]
rs28404995	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28405972	1.00[AFR][1000 genomes]
rs28430442	1.00[AFR][1000 genomes]
rs28432840	1.00[AFR][1000 genomes]
rs28441575	1.00[AFR][1000 genomes]
rs28446873	1.00[AFR][1000 genomes]
rs28474983	1.00[AFR][1000 genomes]
rs28533453	1.00[AFR][1000 genomes]
rs28663455	1.00[AFR][1000 genomes]
rs28674891	1.00[AFR][1000 genomes]
rs28691569	1.00[AFR][1000 genomes]
rs28709022	1.00[AFR][1000 genomes]
rs28768157	1.00[AFR][1000 genomes]
rs28811125	1.00[AFR][1000 genomes]
rs28868367	0.87[AFR][1000 genomes]
rs34514482	1.00[AFR][1000 genomes]
rs9921060	1.00[AFR][1000 genomes]
rs9921607	1.00[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs9921690	1.00[AFR][1000 genomes]
rs9922236	1.00[AFR][1000 genomes]
rs9922531	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9922863	1.00[AFR][1000 genomes]
rs9922954	1.00[AFR][1000 genomes]
rs9924052	1.00[AFR][1000 genomes]
rs9924144	1.00[AFR][1000 genomes]
rs9924420	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9925039	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9925483	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9925499	1.00[AFR][1000 genomes]
rs9928023	1.00[AFR][1000 genomes]
rs9928782	1.00[AFR][1000 genomes]
rs9930629	1.00[AFR][1000 genomes]
rs9930919	1.00[AFR][1000 genomes]
rs9931999	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9932380	0.87[AFR][1000 genomes]
rs9932666	1.00[AFR][1000 genomes]
rs9933580	0.87[AFR][1000 genomes]
rs9934103	1.00[AFR][1000 genomes]
rs9934849	1.00[AFR][1000 genomes]
rs9935072	1.00[AFR][1000 genomes]
rs9935386	1.00[AFR][1000 genomes]
rs9935939	1.00[AFR][1000 genomes]
rs9936017	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9936168	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9936755	1.00[AFR][1000 genomes]
rs9937013	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9938457	1.00[AFR][1000 genomes]
rs9938504	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9939423	1.00[AFR][1000 genomes]
rs9940019	1.00[AFR][1000 genomes]
rs9940111	1.00[AFR][1000 genomes]
rs9940262	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv533068	chr16:47354593-47559639	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv833217	chr16:47358148-47527655	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	esv1822041	chr16:47399460-47569732	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv572537	chr16:47411203-47599502	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	esv1794084	chr16:47478207-47676184	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47496000-47502200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:47496200-47503200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr16:47496200-47515000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:47496200-47526400	Weak transcription	Pancreas	Pancrea
5	chr16:47496200-47532000	Weak transcription	Ovary	ovary
6	chr16:47496200-47538400	Weak transcription	NH-A	brain
7	chr16:47496400-47506200	Weak transcription	Fetal Thymus	thymus
8	chr16:47496400-47512000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr16:47496400-47523400	Weak transcription	Fetal Lung	lung
10	chr16:47496600-47509800	Weak transcription	Lung	lung
11	chr16:47496600-47522600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:47497000-47522400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr16:47497200-47511400	Weak transcription	NHLF	lung
14	chr16:47497200-47515600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr16:47497200-47521600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr16:47497800-47502200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr16:47497800-47509800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr16:47498200-47509800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:47498200-47517600	Weak transcription	A549	lung
20	chr16:47498200-47527800	Weak transcription	Small Intestine	intestine
21	chr16:47498400-47504200	Weak transcription	Aorta	Aorta
22	chr16:47498400-47509400	Weak transcription	Osteobl	bone
23	chr16:47498400-47521400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr16:47498400-47521600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:47498400-47526000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr16:47498600-47502200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:47498600-47504400	Weak transcription	Left Ventricle	heart
28	chr16:47498600-47506600	Weak transcription	HUVEC	blood vessel
29	chr16:47498600-47518200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr16:47498800-47501800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr16:47498800-47504200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr16:47498800-47504400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr16:47498800-47507000	Weak transcription	Fetal Brain Female	brain
34	chr16:47498800-47510600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr16:47498800-47516600	Weak transcription	Fetal Muscle Leg	muscle
36	chr16:47498800-47517400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:47498800-47526400	Weak transcription	Esophagus	oesophagus
38	chr16:47499000-47504200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr16:47499000-47504800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr16:47499000-47517200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:47499000-47526400	Weak transcription	Fetal Stomach	stomach
42	chr16:47499400-47501800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr16:47499400-47502600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr16:47499400-47503000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:47499400-47509200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr16:47499400-47515600	Weak transcription	Primary T cells from cord blood	blood
47	chr16:47499400-47517800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr16:47499400-47518600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr16:47499400-47523400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:47499600-47502600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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