Variant report

Variant	rs8048218
Chromosome Location	chr16:31540631-31540632
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31539583..31542235-chr16:31544201..31546359,2	MCF-7	breast:
2	chr16:31530119..31532090-chr16:31539372..31541784,2	MCF-7	breast:
3	chr16:31517756..31521127-chr16:31538452..31541350,5	K562	blood:
4	chr16:31537316..31539067-chr16:31539316..31542062,2	K562	blood:
5	chr16:31517850..31520614-chr16:31538452..31541283,3	K562	blood:

Variant related genes	Relation type
ENSG00000140688	Chromatin interaction
ENSG00000260625	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10596	1.00[JPT][hapmap]
rs11150624	0.82[ASW][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap]
rs11150628	0.84[AMR][1000 genomes]
rs1135265	0.86[JPT][hapmap];0.86[MEX][hapmap]
rs11643752	0.81[MEX][hapmap]
rs11646911	0.82[ASW][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]
rs12596058	0.90[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12920273	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3116150	0.82[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap]
rs35884660	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4243237	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4423435	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4482295	1.00[ASW][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs4544258	0.84[AMR][1000 genomes]
rs4597343	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4627374	0.89[ASN][1000 genomes]
rs4889549	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4889661	0.82[ASW][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]
rs4889664	0.80[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4889666	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6565253	0.84[AMR][1000 genomes]
rs7192364	0.84[AMR][1000 genomes]
rs7201796	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7205058	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7206531	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8050563	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8050712	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8054784	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8057029	0.84[AMR][1000 genomes]
rs8060914	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
2	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
3	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
4	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
5	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
6	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
7	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
8	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
9	nsv1060240	chr16:31495873-31581450	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	esv1823209	chr16:31521276-31580272	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
13	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
14	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
15	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8048218	ZNF646	cis	cerebellum	SCAN
rs8048218	FUS	cis	cerebellum	SCAN
rs8048218	NUPR1	cis	cerebellum	SCAN
rs8048218	FBXL19	cis	cerebellum	SCAN
rs8048218	ZNF267	cis	cerebellum	SCAN
rs8048218	DCTPP1	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31538800-31540800	Flanking Active TSS	K562	blood
2	chr16:31539200-31540800	Bivalent Enhancer	Primary B cells from cord blood	blood
3	chr16:31539400-31541200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr16:31539400-31541600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr16:31539600-31540800	Enhancers	Spleen	Spleen
6	chr16:31539600-31541600	Bivalent/Poised TSS	Fetal Kidney	kidney
7	chr16:31539800-31540800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr16:31540000-31540800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:31540000-31540800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr16:31540000-31541200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr16:31540000-31541400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr16:31540000-31541600	Active TSS	Colon Smooth Muscle	Colon
13	chr16:31540000-31541600	Enhancers	Gastric	stomach
14	chr16:31540000-31541800	Active TSS	Aorta	Aorta
15	chr16:31540200-31540800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr16:31540200-31540800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:31540200-31540800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:31540200-31540800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr16:31540200-31540800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
20	chr16:31540200-31541200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
21	chr16:31540200-31541200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
22	chr16:31540200-31541200	Active TSS	Right Atrium	heart
23	chr16:31540200-31541200	Bivalent/Poised TSS	HSMM	muscle
24	chr16:31540200-31541400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
25	chr16:31540200-31541400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr16:31540200-31541400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr16:31540200-31541400	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr16:31540200-31541400	Bivalent/Poised TSS	A549	lung
29	chr16:31540200-31541600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr16:31540200-31541600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:31540200-31541600	Bivalent/Poised TSS	Colonic Mucosa	Colon
32	chr16:31540200-31541800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
33	chr16:31540400-31540800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:31540400-31540800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr16:31540400-31540800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
36	chr16:31540400-31540800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr16:31540400-31540800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
38	chr16:31540400-31541000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:31540400-31541000	Active TSS	Primary T cells from cord blood	blood
40	chr16:31540400-31541000	Bivalent/Poised TSS	Psoas Muscle	Psoas
41	chr16:31540400-31541200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr16:31540400-31541200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr16:31540400-31541200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:31540400-31541200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:31540400-31541200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
46	chr16:31540400-31541200	Bivalent/Poised TSS	Fetal Lung	lung
47	chr16:31540400-31541200	Active TSS	Ovary	ovary
48	chr16:31540400-31541200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
49	chr16:31540400-31541200	Active TSS	Right Ventricle	heart
50	chr16:31540400-31541400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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