Variant report

Variant	rs3807029
Chromosome Location	chr6:26595446-26595447
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	MYC	chr6:26594650-26596492	K562	blood:	n/a	chr6:26595635-26595650 chr6:26595639-26595646 chr6:26595637-26595650 chr6:26595641-26595648
2	TEAD4	chr6:26594807-26595629	HepG2	liver:	n/a	chr6:26595382-26595391
3	SREBP2	chr6:26594422-26595471	GM12878	blood:	n/a	n/a
4	RAD21	chr6:26594890-26596598	HCT-116	colon:	n/a	chr6:26596169-26596182 chr6:26596166-26596185 chr6:26596170-26596180 chr6:26596168-26596180
5	ARID3A	chr6:26594993-26595720	K562	blood:	n/a	n/a
6	CEBPB	chr6:26594895-26595548	A549	lung:	n/a	n/a
7	SMC3	chr6:26594966-26596600	SK-N-SH	brain:	n/a	chr6:26596176-26596184 chr6:26596170-26596180 chr6:26596170-26596184
8	MAX	chr6:26594567-26596525	A549	lung:	n/a	chr6:26595635-26595650 chr6:26595639-26595646 chr6:26595637-26595650 chr6:26595641-26595648
9	MAX	chr6:26595440-26595895	H1-hESC	embryonic stem cell:	n/a	chr6:26595635-26595650 chr6:26595639-26595646 chr6:26595637-26595650 chr6:26595641-26595648
10	CEBPB	chr6:26595150-26595474	IMR90	lung:	n/a	n/a
11	ATF3	chr6:26594749-26595507	A549	lung:	n/a	n/a
12	MAX	chr6:26595171-26595775	A549	lung:	n/a	chr6:26595635-26595650 chr6:26595639-26595646 chr6:26595637-26595650 chr6:26595641-26595648
13	MYC	chr6:26595012-26596455	K562	blood:	n/a	chr6:26595635-26595650 chr6:26595639-26595646 chr6:26595637-26595650 chr6:26595641-26595648
14	MYBL2	chr6:26594866-26595503	HepG2	liver:	n/a	n/a
15	MAX	chr6:26594706-26596402	K562	blood:	n/a	chr6:26595635-26595650 chr6:26595639-26595646 chr6:26595637-26595650 chr6:26595641-26595648
16	IRF1	chr6:26595008-26595448	K562	blood:	n/a	n/a
17	NR2F2	chr6:26594527-26597690	K562	blood:	n/a	n/a
18	SIN3AK20	chr6:26594932-26595481	H1-hESC	embryonic stem cell:	n/a	n/a
19	JUN	chr6:26594187-26598184	K562	blood:	n/a	chr6:26597091-26597100 chr6:26594471-26594480 chr6:26596746-26596755 chr6:26596748-26596755
20	IKZF1	chr6:26595148-26595466	GM12878	blood:	n/a	n/a
21	CTCF	chr6:26595360-26595510	HPF	lung:	n/a	n/a
22	CBX3	chr6:26594925-26595469	K562	blood:	n/a	n/a
23	MAX	chr6:26595362-26595832	H1-hESC	embryonic stem cell:	n/a	chr6:26595635-26595650 chr6:26595639-26595646 chr6:26595637-26595650 chr6:26595641-26595648
24	MAX	chr6:26594987-26595449	K562	blood:	n/a	n/a
25	CTCF	chr6:26595346-26595546	K562	blood:	n/a	n/a
26	RAD21	chr6:26595076-26596651	SK-N-SH	brain:	n/a	chr6:26596169-26596182 chr6:26596166-26596185 chr6:26596170-26596180 chr6:26596168-26596180
27	EP300	chr6:26594957-26595462	K562	blood:	n/a	chr6:26595421-26595435
28	MAZ	chr6:26594990-26595490	K562	blood:	n/a	n/a
29	CEBPB	chr6:26593830-26595720	K562	blood:	n/a	chr6:26594490-26594503 chr6:26594492-26594501 chr6:26594490-26594503 chr6:26594492-26594501 chr6:26594492-26594501 chr6:26594490-26594501 chr6:26594590-26594599 chr6:26594491-26594502 chr6:26594588-26594599 chr6:26594492-26594501
30	ATF3	chr6:26594833-26595450	HCT-116	colon:	n/a	n/a
31	ETS1	chr6:26594871-26595454	A549	lung:	n/a	n/a
32	MXI1	chr6:26595027-26595796	K562	blood:	n/a	n/a
33	ATF3	chr6:26594832-26595573	K562	blood:	n/a	n/a
34	MAX	chr6:26595018-26595795	K562	blood:	n/a	chr6:26595635-26595650 chr6:26595639-26595646 chr6:26595637-26595650 chr6:26595641-26595648
35	POLR2A	chr6:26594893-26595478	PANC-1	pancreas:	n/a	n/a
36	BACH1	chr6:26594736-26595621	K562	blood:	n/a	n/a
37	GTF3C2	chr6:26593832-26595645	K562	blood:	n/a	n/a
38	REST	chr6:26594985-26595472	K562	blood:	n/a	n/a
39	TEAD4	chr6:26594629-26595582	K562	blood:	n/a	chr6:26595382-26595391
40	TRIM28	chr6:26594530-26595685	K562	blood:	n/a	n/a
41	SP1	chr6:26594831-26595516	A549	lung:	n/a	n/a
42	NR2F2	chr6:26594910-26595517	K562	blood:	n/a	n/a
43	CTCF	chr6:26595296-26596595	A549	lung:	n/a	chr6:26596163-26596184 chr6:26596174-26596183 chr6:26596168-26596186 chr6:26596169-26596185 chr6:26596273-26596282 chr6:26596170-26596183 chr6:26596170-26596183 chr6:26596171-26596181
44	CEBPB	chr6:26595019-26595701	A549	lung:	n/a	n/a
45	MYC	chr6:26594640-26596476	K562	blood:	n/a	chr6:26595635-26595650 chr6:26595639-26595646 chr6:26595637-26595650 chr6:26595641-26595648
46	TEAD4	chr6:26594457-26596611	K562	blood:	n/a	chr6:26595382-26595391
47	CEBPB	chr6:26594977-26595511	K562	blood:	n/a	n/a
48	BHLHE40	chr6:26594679-26595630	K562	blood:	n/a	n/a
49	TEAD4	chr6:26594990-26595477	H1-hESC	embryonic stem cell:	n/a	chr6:26595382-26595391
50	KAP1	chr6:26594930-26596411	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:26203638..26206458-chr6:26594626..26596760,2	MCF-7	breast:
2	chr6:26594524..26600977-chr6:27096034..27104390,19	K562	blood:
3	chr6:26217931..26220550-chr6:26594492..26597110,4	K562	blood:
4	chr6:26593730..26596260-chr6:27126260..27127769,2	K562	blood:
5	chr6:26269065..26272494-chr6:26592210..26596038,3	MCF-7	breast:
6	chr6:26285546..26288000-chr6:26593708..26598025,4	K562	blood:
7	chr6:26594775..26596813-chr6:27100203..27102396,2	MCF-7	breast:
8	chr6:26055426..26057370-chr6:26594595..26596136,2	K562	blood:
9	chr6:26593362..26600987-chr6:27097692..27106488,18	K562	blood:
10	chr6:26594405..26597151-chr6:27087903..27090496,2	K562	blood:
11	chr6:26520466..26522539-chr6:26594822..26596821,2	K562	blood:
12	chr6:26593150..26596471-chr6:27113263..27115419,3	K562	blood:
13	chr6:26595203..26596713-chr6:26627322..26630167,2	K562	blood:
14	chr6:26157345..26159809-chr6:26595346..26597752,3	K562	blood:
15	chr6:26536174..26539515-chr6:26593643..26598624,4	K562	blood:
16	chr6:26185337..26188954-chr6:26593847..26597178,3	K562	blood:
17	chr6:26327922..26330114-chr6:26594623..26596839,2	K562	blood:
18	chr6:26122719..26124608-chr6:26594902..26596696,2	K562	blood:
19	chr6:26295824..26298145-chr6:26594803..26596407,2	K562	blood:
20	chr6:26593150..26599498-chr6:27112360..27118946,12	K562	blood:
21	chr6:26576770..26577438-chr6:26595189..26595697,2	K562	blood:
22	chr6:26173162..26176742-chr6:26593702..26596489,3	K562	blood:
23	chr6:26535400..26541597-chr6:26593643..26598951,8	K562	blood:
24	chr6:26520764..26524239-chr6:26594606..26597481,4	K562	blood:
25	chr6:26594524..26596963-chr6:27096034..27097669,2	K562	blood:

Variant related genes	Relation type
ABT1	TF binding region
ENSG00000196787	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000182952	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000198518	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2451714	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2451715	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2451716	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2451739	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2451742	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2451746	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2451749	0.83[EUR][1000 genomes]
rs2451752	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2451753	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2451754	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2494691	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2494705	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2494706	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2494710	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2494711	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2498342	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2498343	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3800302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4591839	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456738	0.80[ASN][1000 genomes]
rs6456739	0.93[ASN][1000 genomes]
rs6902411	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6911540	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919391	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931849	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9379902	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9379903	0.99[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs3807029	RP11-457M11.2	cis	lung	GTEx
rs3807029	RP11-457M11.2	cis	Nerve Tibial	GTEx
rs3807029	ZNF322	cis	Artery Tibial	GTEx
rs3807029	RP11-457M11.2	cis	Skin Sun Exposed Lower leg	GTEx
rs3807029	RP11-457M11.2	cis	Artery Tibial	GTEx
rs3807029	ZNF322	cis	Nerve Tibial	GTEx
rs3807029	ZNF322	cis	Thyroid	GTEx
rs3807029	RP11-457M11.2	cis	Thyroid	GTEx

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26593000-26598000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:26593000-26598400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:26593600-26598400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:26593800-26598000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr6:26593800-26598000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:26593800-26598000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:26593800-26598000	Active TSS	A549	lung
8	chr6:26593800-26598200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:26593800-26598200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:26593800-26598600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr6:26594000-26595600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
12	chr6:26594000-26597200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:26594000-26598000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:26594000-26598000	Active TSS	K562	blood
15	chr6:26594000-26598200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr6:26594200-26598400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:26594200-26598400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:26594400-26597800	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr6:26594400-26598000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:26594400-26598000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:26594400-26598200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:26594600-26598000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:26594600-26598400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr6:26594800-26595600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:26594800-26595600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:26594800-26595600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:26594800-26598400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:26595000-26595600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:26595000-26595600	Enhancers	Adipose Nuclei	Adipose
30	chr6:26595000-26595600	Bivalent Enhancer	Fetal Kidney	kidney
31	chr6:26595000-26595800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr6:26595200-26595600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr6:26595200-26595600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
34	chr6:26595200-26595600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:26595200-26595600	Active TSS	Brain Hippocampus Middle	brain
36	chr6:26595200-26595600	Enhancers	Fetal Stomach	stomach
37	chr6:26595200-26595600	Enhancers	Dnd41	blood
38	chr6:26595200-26595800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:26595200-26595800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr6:26595200-26595800	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr6:26595200-26595800	Bivalent Enhancer	Fetal Thymus	thymus
42	chr6:26595200-26596000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr6:26595200-26597800	Active TSS	Brain Angular Gyrus	brain
44	chr6:26595200-26597800	Active TSS	Brain Cingulate Gyrus	brain
45	chr6:26595200-26597800	Active TSS	Brain Substantia Nigra	brain
46	chr6:26595200-26598000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:26595200-26598000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:26595200-26598000	Active TSS	Ovary	ovary
49	chr6:26595200-26598000	Active TSS	GM12878-XiMat	blood
50	chr6:26595400-26595600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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