Variant report

Variant	rs11864614
Chromosome Location	chr16:70835398-70835399
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	SP4	chr16:70834766-70835425	H1-hESC	embryonic stem cell:	n/a	chr16:70835111-70835127 chr16:70835144-70835160 chr16:70835097-70835108 chr16:70835113-70835129 chr16:70835077-70835088
2	USF1	chr16:70834720-70835412	SK-N-SH	brain:	n/a	chr16:70834887-70834903
3	MYC	chr16:70834659-70835466	K562	blood:	n/a	chr16:70835059-70835068 chr16:70835262-70835271 chr16:70835261-70835272 chr16:70835263-70835270 chr16:70835261-70835272 chr16:70835261-70835272 chr16:70835261-70835271 chr16:70835262-70835271
4	FOS	chr16:70834935-70835467	HUVEC	blood vessel:	n/a	n/a
5	GABPA	chr16:70834686-70835473	MCF-7	breast:	n/a	chr16:70834895-70834909 chr16:70834892-70834906
6	ELF1	chr16:70834598-70835567	HCT-116	colon:	n/a	chr16:70835077-70835086 chr16:70835076-70835087 chr16:70834890-70834902
7	HCFC1	chr16:70834003-70835996	Hela-S3	cervix:	n/a	n/a
8	USF2	chr16:70834886-70835431	K562	blood:	n/a	chr16:70834887-70834903 chr16:70835057-70835068
9	USF1	chr16:70834727-70835479	H1-hESC	embryonic stem cell:	n/a	chr16:70834887-70834903
10	MXI1	chr16:70834096-70835439	GM12878	blood:	n/a	n/a
11	GABPA	chr16:70834662-70835445	SK-N-SH	brain:	n/a	chr16:70834895-70834909 chr16:70834892-70834906
12	USF1	chr16:70834593-70835575	HCT-116	colon:	n/a	chr16:70834887-70834903
13	YY1	chr16:70834617-70835442	ECC-1	luminal epithelium:	n/a	chr16:70834889-70834903 chr16:70835042-70835052 chr16:70835042-70835064
14	POLR2A	chr16:70834257-70835423	MCF10A-Er-Src	breast:	n/a	n/a
15	ELF1	chr16:70834694-70835603	HCT-116	colon:	n/a	chr16:70835077-70835086 chr16:70835076-70835087 chr16:70834890-70834902
16	ELF1	chr16:70834654-70835436	SK-N-SH	brain:	n/a	chr16:70835077-70835086 chr16:70835076-70835087 chr16:70834890-70834902
17	FOS	chr16:70835011-70835442	MCF10A-Er-Src	breast:	n/a	n/a
18	PML	chr16:70834650-70835498	GM12878	blood:	n/a	n/a
19	MAX	chr16:70834240-70835455	Hela-S3	cervix:	n/a	chr16:70835059-70835068 chr16:70835262-70835271 chr16:70835261-70835272 chr16:70835263-70835270 chr16:70835261-70835272 chr16:70835261-70835272 chr16:70835261-70835271 chr16:70835262-70835271
20	IRF1	chr16:70834877-70835404	K562	blood:	n/a	chr16:70835095-70835109 chr16:70835144-70835158 chr16:70835111-70835125
21	GTF2F1	chr16:70834905-70835444	K562	blood:	n/a	n/a
22	POLR2A	chr16:70834684-70835465	U87	brain:	n/a	n/a
23	POLR2A	chr16:70834613-70835414	MCF-7	breast:	n/a	n/a
24	POLR2A	chr16:70834338-70835463	HL-60	blood:	n/a	n/a
25	TBP	chr16:70834893-70835445	GM12878	blood:	n/a	n/a
26	MYC	chr16:70834824-70835442	K562	blood:	n/a	chr16:70835059-70835068 chr16:70835262-70835271 chr16:70835261-70835272 chr16:70835263-70835270 chr16:70835261-70835272 chr16:70835261-70835272 chr16:70835261-70835271 chr16:70835262-70835271
27	USF1	chr16:70834672-70835457	ECC-1	luminal epithelium:	n/a	chr16:70834887-70834903
28	USF1	chr16:70834767-70835444	A549	lung:	n/a	chr16:70834887-70834903
29	GABPA	chr16:70834654-70835607	MCF-7	breast:	n/a	chr16:70834895-70834909 chr16:70834892-70834906
30	POLR2A	chr16:70834234-70835399	HepG2	liver:	n/a	n/a
31	MAZ	chr16:70834900-70835494	GM12878	blood:	n/a	chr16:70835059-70835068 chr16:70835262-70835271 chr16:70835261-70835272 chr16:70835263-70835270 chr16:70835261-70835272 chr16:70835261-70835272 chr16:70835261-70835271 chr16:70835262-70835271
32	POLR2A	chr16:70834357-70835411	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr16:70834838-70835411	K562	blood:	n/a	n/a
34	POLR2A	chr16:70834833-70835421	K562	blood:	n/a	n/a
35	SIN3AK20	chr16:70834715-70835536	HCT-116	colon:	n/a	n/a
36	MAX	chr16:70834575-70835543	MCF-7	breast:	n/a	chr16:70835059-70835068 chr16:70835262-70835271 chr16:70835261-70835272 chr16:70835263-70835270 chr16:70835261-70835272 chr16:70835261-70835272 chr16:70835261-70835271 chr16:70835262-70835271
37	USF2	chr16:70834801-70835419	GM12878	blood:	n/a	chr16:70834887-70834903 chr16:70835057-70835068
38	MAX	chr16:70834825-70835420	Hela-S3	cervix:	n/a	chr16:70835059-70835068 chr16:70835262-70835271 chr16:70835261-70835272 chr16:70835263-70835270 chr16:70835261-70835272 chr16:70835261-70835272 chr16:70835261-70835271 chr16:70835262-70835271
39	MYC	chr16:70834671-70835496	NB4	blood:	n/a	chr16:70835059-70835068 chr16:70835262-70835271 chr16:70835261-70835272 chr16:70835263-70835270 chr16:70835261-70835272 chr16:70835261-70835272 chr16:70835261-70835271 chr16:70835262-70835271
40	MYC	chr16:70834618-70835557	K562	blood:	n/a	chr16:70835059-70835068 chr16:70835262-70835271 chr16:70835261-70835272 chr16:70835263-70835270 chr16:70835261-70835272 chr16:70835261-70835272 chr16:70835261-70835271 chr16:70835262-70835271
41	MXI1	chr16:70834301-70835425	HepG2	liver:	n/a	n/a
42	E2F6	chr16:70834665-70835652	H1-hESC	embryonic stem cell:	n/a	chr16:70834893-70834903 chr16:70834778-70834786 chr16:70834892-70834902 chr16:70834896-70834905
43	BRCA1	chr16:70834818-70835447	H1-hESC	embryonic stem cell:	n/a	n/a
44	TBP	chr16:70834802-70835427	HepG2	liver:	n/a	n/a
45	ZEB1	chr16:70834695-70835584	HepG2	liver:	n/a	n/a
46	MXI1	chr16:70834073-70836008	IMR90	lung:	n/a	n/a
47	MXI1	chr16:70834386-70835412	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr16:70834826-70835433	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr16:70834266-70835450	IMR90	lung:	n/a	n/a
50	SP1	chr16:70834752-70835457	A549	lung:	n/a	chr16:70835147-70835157 chr16:70835097-70835109 chr16:70835097-70835109 chr16:70835114-70835124 chr16:70835114-70835124 chr16:70835113-70835125 chr16:70835097-70835108 chr16:70835147-70835157 chr16:70835077-70835088 chr16:70835098-70835107

No.	Distal block	Cell Line	Cell type
1	chr16:70832610..70835420-chr16:70895193..70897574,2	MCF-7	breast:
2	chr16:70780127..70782927-chr16:70835296..70837245,2	K562	blood:
3	chr16:70835179..70835801-chr7:4681315..4682076,2	Hela-S3	cervix:
4	chr1:153940232..153940968-chr16:70834699..70835404,2	Hela-S3	cervix:
5	chr16:70835151..70836653-chr16:70837410..70838920,2	K562	blood:
6	chr16:70820021..70824247-chr16:70832528..70836441,6	MCF-7	breast:
7	chr12:7079440..7079988-chr16:70834575..70835489,2	Hela-S3	cervix:

Variant related genes	Relation type
VAC14	TF binding region
ENSG00000103043	Chromatin interaction
ENSG00000126749	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000215021	Chromatin interaction
ENSG00000260156	Chromatin interaction
ENSG00000157423	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1009285	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11863319	0.94[ASN][1000 genomes]
rs11866379	0.89[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.90[LWK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12920588	0.88[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12924064	0.88[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.81[TSI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12926985	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12928270	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12929374	0.93[ASN][1000 genomes]
rs12934723	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12935645	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13335758	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1394574	0.81[EUR][1000 genomes]
rs1551528	0.88[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1551529	0.88[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16970484	0.89[JPT][hapmap]
rs16970513	0.86[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs16970545	0.82[YRI][hapmap]
rs17248914	0.89[JPT][hapmap]
rs1827682	0.81[EUR][1000 genomes]
rs28676580	0.84[ASN][1000 genomes]
rs34268521	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35144432	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35426120	0.94[ASN][1000 genomes]
rs35665975	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3743988	0.81[CHB][hapmap]
rs3760118	0.91[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs3855651	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4985364	0.86[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4985425	0.84[ASN][1000 genomes]
rs52826576	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60190856	0.94[ASN][1000 genomes]
rs6416703	0.92[EUR][1000 genomes]
rs6499336	0.89[JPT][hapmap]
rs713511	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71384769	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71401831	0.94[ASN][1000 genomes]
rs7185187	0.81[CHB][hapmap]
rs7185921	0.86[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs7188712	0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs7192013	0.82[YRI][hapmap]
rs7202363	0.83[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs8044133	0.96[ASN][1000 genomes]
rs8052615	0.91[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs8060947	0.83[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs9931380	0.91[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11864614	SF3B3	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70833600-70835400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr16:70833600-70835400	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr16:70833600-70835600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr16:70833600-70835600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:70833800-70835400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr16:70833800-70835400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr16:70833800-70835400	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr16:70833800-70835400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:70834000-70835400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr16:70834000-70835400	Active TSS	Fetal Intestine Large	intestine
11	chr16:70834000-70835400	Active TSS	Fetal Intestine Small	intestine
12	chr16:70834000-70835400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr16:70834200-70835400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:70834200-70835400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr16:70834200-70835400	Active TSS	Psoas Muscle	Psoas
16	chr16:70834200-70835400	Active TSS	A549	lung
17	chr16:70834200-70835600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr16:70834200-70835600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:70834400-70835400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr16:70834400-70835400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr16:70834400-70835400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr16:70834400-70835400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:70834400-70835400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:70834400-70835400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:70834400-70835400	Active TSS	Gastric	stomach
26	chr16:70834400-70835400	Active TSS	Placenta Amnion	Placenta Amnion
27	chr16:70834400-70835400	Active TSS	Stomach Mucosa	stomach
28	chr16:70834400-70835600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr16:70834400-70835600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr16:70834400-70835600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:70834400-70835600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr16:70834400-70835600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:70834400-70835600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr16:70834400-70835600	Active TSS	NHDF-Ad	bronchial
35	chr16:70834400-70835800	Active TSS	Fetal Kidney	kidney
36	chr16:70834600-70835400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr16:70834600-70835400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:70834600-70835400	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr16:70834600-70835400	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr16:70834600-70835400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:70834600-70835400	Active TSS	Aorta	Aorta
42	chr16:70834600-70835400	Active TSS	Brain Substantia Nigra	brain
43	chr16:70834600-70835400	Active TSS	Esophagus	oesophagus
44	chr16:70834600-70835400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr16:70834600-70835400	Active TSS	Fetal Muscle Leg	muscle
46	chr16:70834600-70835400	Bivalent/Poised TSS	Fetal Stomach	stomach
47	chr16:70834600-70835400	Active TSS	Left Ventricle	heart
48	chr16:70834600-70835400	Active TSS	Lung	lung
49	chr16:70834600-70835400	Active TSS	Right Atrium	heart
50	chr16:70834600-70835400	Active TSS	Stomach Smooth Muscle	stomach

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