Variant report

Variant	rs4889506
Chromosome Location	chr16:30780828-30780829
allele	A/G
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	MAFK	chr16:30780710-30780942	HepG2	liver:	n/a	chr16:30780804-30780819
2	POLR2A	chr16:30780619-30781198	GM12892	blood:	n/a	n/a
3	POLR2A	chr16:30780533-30781230	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:30780634-30781000	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:30780163-30781664	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:30779014-30781169	K562	blood:	n/a	n/a
7	MAFK	chr16:30780668-30780906	HepG2	liver:	n/a	chr16:30780804-30780819
8	POLR2A	chr16:30779728-30781185	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNF40	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1348039	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1470129	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1530201	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919428	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919432	1.00[MKK][hapmap]
rs2972805	1.00[AMR][1000 genomes]
rs2972806	1.00[AMR][1000 genomes]
rs2972808	1.00[MKK][hapmap]
rs2972809	1.00[MKK][hapmap]
rs34838942	1.00[AMR][1000 genomes]
rs35590751	1.00[AMR][1000 genomes]
rs4889492	1.00[AMR][1000 genomes]
rs4889502	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889503	1.00[MKK][hapmap]
rs4889505	1.00[MKK][hapmap]
rs55821738	1.00[AMR][1000 genomes]
rs58723456	1.00[AMR][1000 genomes]
rs59474645	1.00[AMR][1000 genomes]
rs61678005	1.00[AMR][1000 genomes]
rs62057229	1.00[AMR][1000 genomes]
rs6420450	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7188789	0.82[YRI][hapmap]
rs7188927	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7194347	0.81[YRI][hapmap]
rs74015010	1.00[AMR][1000 genomes]
rs74015011	1.00[AMR][1000 genomes]
rs74015012	1.00[AMR][1000 genomes]
rs74015056	1.00[AMR][1000 genomes]
rs8048656	1.00[MKK][hapmap]
rs893924	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs893925	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9925025	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
11	nsv9438	chr16:30770203-30799442	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30774200-30786600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:30774600-30781400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:30774600-30785400	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr16:30774600-30786200	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr16:30774800-30785000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
6	chr16:30774800-30785800	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr16:30774800-30786200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:30774800-30786400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr16:30775000-30784200	Strong transcription	HSMMtube	muscle
10	chr16:30775000-30784400	Strong transcription	Primary B cells from cord blood	blood
11	chr16:30775000-30785400	Strong transcription	Aorta	Aorta
12	chr16:30775000-30785800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:30775000-30785800	Strong transcription	Brain Substantia Nigra	brain
14	chr16:30775000-30786000	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr16:30775000-30786000	Strong transcription	NH-A	brain
16	chr16:30775000-30786200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:30775000-30786200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:30775000-30786200	Strong transcription	Fetal Thymus	thymus
19	chr16:30775000-30786400	Strong transcription	Thymus	Thymus
20	chr16:30775200-30781200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
21	chr16:30775200-30781400	Strong transcription	HSMM	muscle
22	chr16:30775200-30785200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr16:30775200-30785400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr16:30775200-30785600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr16:30775200-30785600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr16:30775200-30785800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:30775200-30785800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr16:30775200-30785800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr16:30775200-30785800	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr16:30775200-30786000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr16:30775200-30786000	Strong transcription	Primary hematopoietic stem cells	blood
32	chr16:30775200-30786000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr16:30775200-30786000	Strong transcription	HUVEC	blood vessel
34	chr16:30775200-30786000	Strong transcription	NHLF	lung
35	chr16:30775200-30786200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr16:30775200-30786200	Strong transcription	A549	lung
37	chr16:30775400-30781200	Strong transcription	NHDF-Ad	bronchial
38	chr16:30775400-30781400	Strong transcription	NHEK	skin
39	chr16:30775400-30785400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:30775400-30785400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr16:30775400-30785600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr16:30775400-30785800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr16:30775400-30786000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:30775400-30786000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:30775400-30786000	Strong transcription	Primary T cells from cord blood	blood
46	chr16:30775400-30786000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr16:30775400-30786000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:30775400-30786000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr16:30775400-30786000	Strong transcription	Fetal Lung	lung
50	chr16:30775400-30786000	Strong transcription	Osteobl	bone

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