Variant report

Variant	rs13329876
Chromosome Location	chr16:47496854-47496855
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	TBL1XR1	chr16:47496550-47496965	K562	blood:	n/a	n/a
2	POLR2A	chr16:47496779-47497503	K562	blood:	n/a	n/a
3	IRF1	chr16:47496721-47499225	K562	blood:	n/a	chr16:47497667-47497681 chr16:47497667-47497677 chr16:47497669-47497683 chr16:47498902-47498915

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47493905..47495976-chr16:47496733..47498612,2	MCF-7	breast:
2	chr16:47485624..47489187-chr16:47492609..47496944,6	K562	blood:

Variant related genes	Relation type
ITFG1	TF binding region
ENSG00000129636	Chromatin interaction
ENSG00000102893	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]
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]
rs13339329	1.00[LWK][hapmap];1.00[YRI][hapmap];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[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[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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47493200-47497400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:47494200-47497000	Active TSS	A549	lung
3	chr16:47494200-47497600	Active TSS	GM12878-XiMat	blood
4	chr16:47494200-47498200	Active TSS	K562	blood
5	chr16:47494400-47497400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:47494400-47498000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr16:47494600-47497000	Active TSS	HMEC	breast
8	chr16:47495800-47498000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:47496000-47497800	Weak transcription	Small Intestine	intestine
10	chr16:47496000-47498000	Weak transcription	Spleen	Spleen
11	chr16:47496000-47498200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:47496000-47502200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:47496200-47497000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr16:47496200-47497000	Enhancers	Fetal Kidney	kidney
15	chr16:47496200-47497200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:47496200-47497200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:47496200-47497200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr16:47496200-47497200	Enhancers	Primary hematopoietic stem cells	blood
19	chr16:47496200-47497200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr16:47496200-47497200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr16:47496200-47497200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:47496200-47497200	Active TSS	Fetal Brain Female	brain
23	chr16:47496200-47497400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr16:47496200-47497600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr16:47496200-47497800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr16:47496200-47497800	Enhancers	Primary B cells from peripheral blood	blood
27	chr16:47496200-47497800	Weak transcription	Right Ventricle	heart
28	chr16:47496200-47498000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr16:47496200-47498000	Enhancers	Primary T cells from cord blood	blood
30	chr16:47496200-47498000	Weak transcription	Aorta	Aorta
31	chr16:47496200-47498000	Weak transcription	Esophagus	oesophagus
32	chr16:47496200-47498200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr16:47496200-47498200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr16:47496200-47498200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr16:47496200-47498200	Enhancers	Brain Cingulate Gyrus	brain
36	chr16:47496200-47498400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:47496200-47498400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr16:47496200-47498400	Enhancers	Brain Angular Gyrus	brain
39	chr16:47496200-47498600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr16:47496200-47499000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr16:47496200-47499200	Weak transcription	HSMMtube	muscle
42	chr16:47496200-47499400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr16:47496200-47499400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr16:47496200-47499400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr16:47496200-47499400	Enhancers	Fetal Brain Male	brain
46	chr16:47496200-47499600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr16:47496200-47500200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr16:47496200-47501400	Enhancers	Fetal Heart	heart
49	chr16:47496200-47501400	Weak transcription	Fetal Intestine Small	intestine
50	chr16:47496200-47501400	Weak transcription	Stomach Mucosa	stomach

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