Variant report

Variant	rs4425606
Chromosome Location	chr6:150284435-150284436
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	MAX	chr6:150284198-150285333	K562	blood:	n/a	chr6:150284987-150284996 chr6:150285295-150285305 chr6:150284531-150284540
2	EGR1	chr6:150284155-150285435	HCT-116	colon:	n/a	chr6:150284960-150284974 chr6:150284963-150284972 chr6:150284942-150284951 chr6:150284960-150284973 chr6:150284963-150284973 chr6:150284961-150284975 chr6:150284960-150284973 chr6:150285294-150285304 chr6:150284962-150284972 chr6:150284960-150284973 chr6:150284960-150284973
3	SMARCB1	chr6:150284345-150285713	Hela-S3	cervix:	n/a	chr6:150284356-150284365
4	ZMIZ1	chr6:150284371-150285270	K562	blood:	n/a	n/a
5	SIN3A	chr6:150284304-150285678	H1-hESC	embryonic stem cell:	n/a	n/a
6	HCFC1	chr6:150283976-150285272	Hela-S3	cervix:	n/a	n/a
7	MAX	chr6:150284248-150285357	K562	blood:	n/a	chr6:150284987-150284996 chr6:150285295-150285305 chr6:150284531-150284540
8	MYC	chr6:150284310-150285251	K562	blood:	n/a	chr6:150284987-150284996 chr6:150284531-150284540
9	MAX	chr6:150284143-150285482	MCF-7	breast:	n/a	chr6:150284987-150284996 chr6:150285295-150285305 chr6:150284531-150284540
10	CEBPB	chr6:150284116-150285267	HCT-116	colon:	n/a	n/a
11	TAF1	chr6:150284293-150285426	H1-hESC	embryonic stem cell:	n/a	n/a
12	TCF7L2	chr6:150284270-150285335	HCT-116	colon:	n/a	chr6:150284356-150284365
13	SMC3	chr6:150284386-150285252	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr6:150284263-150285369	HCT-116	colon:	n/a	n/a
15	MYC	chr6:150284280-150285462	K562	blood:	n/a	chr6:150284987-150284996 chr6:150285295-150285305 chr6:150284531-150284540
16	PBX3	chr6:150284427-150284574	GM12878	blood:	n/a	n/a
17	TBP	chr6:150284314-150285190	Hela-S3	cervix:	n/a	n/a
18	MYC	chr6:150284396-150285220	K562	blood:	n/a	chr6:150284987-150284996 chr6:150284531-150284540
19	MAZ	chr6:150284336-150285340	K562	blood:	n/a	chr6:150284987-150284996 chr6:150285295-150285305 chr6:150284531-150284540
20	CEBPB	chr6:150284391-150285206	Hela-S3	cervix:	n/a	n/a
21	RCOR1	chr6:150284179-150284465	Hela-S3	cervix:	n/a	n/a
22	BACH1	chr6:150284433-150286779	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr6:150284066-150285523	U87	brain:	n/a	n/a
24	CUX1	chr6:150284152-150284926	K562	blood:	n/a	n/a
25	BATF	chr6:150284202-150284490	GM12878	blood:	n/a	n/a
26	MAX	chr6:150284203-150285452	A549	lung:	n/a	chr6:150284987-150284996 chr6:150285295-150285305 chr6:150284531-150284540
27	POLR2A	chr6:150284277-150285359	HEK293	kidney:	n/a	n/a
28	USF2	chr6:150284385-150285185	Hela-S3	cervix:	n/a	n/a
29	JUN	chr6:150284317-150285250	K562	blood:	n/a	chr6:150284356-150284366 chr6:150284350-150284362 chr6:150284356-150284366 chr6:150284358-150284369 chr6:150284356-150284366 chr6:150284356-150284366 chr6:150284357-150284365
30	RCOR1	chr6:150284222-150285185	K562	blood:	n/a	n/a
31	POLR2A	chr6:150284191-150285387	U87	brain:	n/a	n/a
32	POLR2A	chr6:150284145-150285387	U87	brain:	n/a	n/a
33	TEAD4	chr6:150283868-150285282	K562	blood:	n/a	n/a
34	POLR2A	chr6:150284190-150285379	HCT-116	colon:	n/a	n/a
35	CBX3	chr6:150284083-150286034	K562	blood:	n/a	n/a
36	GTF2F1	chr6:150284354-150285318	Hela-S3	cervix:	n/a	n/a
37	MXI1	chr6:150284208-150285384	IMR90	lung:	n/a	n/a
38	POLR2A	chr6:150284065-150285751	H1-hESC	embryonic stem cell:	n/a	n/a
39	HCFC1	chr6:150284276-150285341	K562	blood:	n/a	n/a
40	POLR2A	chr6:150284267-150285568	MCF-7	breast:	n/a	n/a
41	MAX	chr6:150284063-150285558	HCT-116	colon:	n/a	chr6:150284987-150284996 chr6:150285295-150285305 chr6:150284531-150284540
42	NRF1	chr6:150284339-150285084	K562	blood:	n/a	chr6:150284495-150284509 chr6:150284495-150284506
43	PML	chr6:150284407-150285209	K562	blood:	n/a	n/a
44	SRF	chr6:150284085-150285531	HCT-116	colon:	n/a	chr6:150285094-150285104 chr6:150284720-150284730
45	POLR2A	chr6:150284383-150286106	H1-neurons	neurons:	n/a	n/a
46	RCOR1	chr6:150284179-150285429	K562	blood:	n/a	n/a
47	POLR2A	chr6:150284072-150285517	U87	brain:	n/a	n/a
48	POLR2A	chr6:150284274-150285414	SK-N-MC	brain:	n/a	n/a
49	POLR2A	chr6:150284255-150285369	HCT-116	colon:	n/a	n/a
50	E2F6	chr6:150284367-150285711	K562	blood:	n/a	chr6:150284496-150284505

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150276072..150278660-chr6:150282863..150284944,2	K562	blood:
2	chr6:150281848..150284809-chr6:150294278..150296186,2	MCF-7	breast:

Variant related genes	Relation type
ULBP1	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10499261	0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs12110592	0.87[ASN][1000 genomes]
rs12523670	0.87[ASN][1000 genomes]
rs12527074	0.87[ASN][1000 genomes]
rs12529569	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs12530097	0.83[ASN][1000 genomes]
rs12662588	0.87[ASN][1000 genomes]
rs12663861	0.85[ASN][1000 genomes]
rs1535955	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.96[TSI][hapmap]
rs1577353	0.87[ASN][1000 genomes]
rs17079064	0.95[CHB][hapmap];0.93[CHD][hapmap]
rs17079076	0.95[CHB][hapmap]
rs17079081	0.95[CHB][hapmap]
rs17079083	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs17079087	0.89[CHB][hapmap]
rs17079117	0.95[CHB][hapmap];0.94[ASN][1000 genomes]
rs17079127	0.95[CHB][hapmap];0.94[ASN][1000 genomes]
rs17079130	0.95[CHB][hapmap];0.85[JPT][hapmap];0.96[ASN][1000 genomes]
rs1977656	0.80[ASN][1000 genomes]
rs2018074	0.95[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs2181918	0.83[ASN][1000 genomes]
rs2343264	0.95[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs3860818	0.87[ASN][1000 genomes]
rs4084448	0.93[ASN][1000 genomes]
rs4133317	0.95[CHB][hapmap];0.93[CHD][hapmap]
rs4354166	0.83[ASN][1000 genomes]
rs4504486	0.95[CHB][hapmap];0.90[CHD][hapmap]
rs56370653	0.87[ASN][1000 genomes]
rs61158421	0.88[ASN][1000 genomes]
rs61233579	0.84[ASN][1000 genomes]
rs61298074	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62441825	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62441832	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62441834	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73779712	0.87[ASN][1000 genomes]
rs73779717	0.86[ASN][1000 genomes]
rs73779721	0.87[ASN][1000 genomes]
rs73779728	0.86[ASN][1000 genomes]
rs73779729	0.86[ASN][1000 genomes]
rs73779733	0.86[ASN][1000 genomes]
rs7454183	0.85[ASN][1000 genomes]
rs7740713	0.96[ASN][1000 genomes]
rs7744918	0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[ASN][1000 genomes]
rs7745903	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs7749024	0.87[ASN][1000 genomes]
rs7760608	0.95[CHB][hapmap];0.85[JPT][hapmap];0.96[ASN][1000 genomes]
rs7763485	0.85[ASN][1000 genomes]
rs7763772	0.87[ASN][1000 genomes]
rs7767362	0.94[ASN][1000 genomes]
rs9688944	1.00[CEU][hapmap]
rs9791229	0.95[CHB][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv886765	chr6:150198491-150288722	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4425606	PPIL4	cis	parietal	SCAN
rs4425606	ULBP1	cis	cerebellum	SCAN
rs4425606	HAUS7	trans	cerebellum	SCAN
rs4425606	C6orf72	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150283800-150284600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:150284000-150284600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
3	chr6:150284000-150284600	Enhancers	Esophagus	oesophagus
4	chr6:150284000-150284800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:150284000-150285200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:150284000-150286600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:150284200-150284600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
8	chr6:150284200-150284600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:150284200-150284600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:150284200-150284600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:150284200-150284600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
12	chr6:150284200-150284600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:150284200-150284600	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:150284200-150284600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:150284200-150284600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr6:150284200-150284600	Bivalent Enhancer	Liver	Liver
17	chr6:150284200-150284600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
18	chr6:150284200-150284600	Enhancers	Left Ventricle	heart
19	chr6:150284200-150284600	Enhancers	Lung	lung
20	chr6:150284200-150284600	Flanking Active TSS	HSMM	muscle
21	chr6:150284200-150284600	Flanking Active TSS	K562	blood
22	chr6:150284200-150284600	Flanking Bivalent TSS/Enh	NHEK	skin
23	chr6:150284200-150284800	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
24	chr6:150284200-150284800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:150284200-150284800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:150284200-150284800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr6:150284200-150284800	Bivalent Enhancer	Fetal Brain Male	brain
28	chr6:150284200-150284800	Bivalent Enhancer	Fetal Thymus	thymus
29	chr6:150284200-150285000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
30	chr6:150284200-150285000	Flanking Active TSS	NH-A	brain
31	chr6:150284200-150285200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
32	chr6:150284200-150285200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
33	chr6:150284200-150285200	Enhancers	Spleen	Spleen
34	chr6:150284200-150285400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:150284200-150285600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr6:150284200-150285600	Active TSS	A549	lung
37	chr6:150284200-150285800	Flanking Active TSS	Dnd41	blood
38	chr6:150284200-150286000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:150284200-150286200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:150284200-150286400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
41	chr6:150284200-150286600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
42	chr6:150284200-150286600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
43	chr6:150284200-150286600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
44	chr6:150284200-150286800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr6:150284200-150286800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr6:150284200-150286800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:150284200-150287000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
48	chr6:150284400-150284600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
49	chr6:150284400-150284600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:150284400-150284600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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