Variant report

Variant	rs9377032
Chromosome Location	chr6:147178498-147178499
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	SMC3	chr6:147178292-147179709	SK-N-SH	brain:	n/a	chr6:147178757-147178771 chr6:147178761-147178771
2	MAFF	chr6:147178259-147179438	K562	blood:	n/a	chr6:147178841-147178859
3	ZMIZ1	chr6:147178345-147179300	K562	blood:	n/a	n/a
4	MYC	chr6:147178296-147179447	K562	blood:	n/a	n/a
5	JUN	chr6:147175193-147179604	K562	blood:	n/a	chr6:147178979-147178991 chr6:147176865-147176875 chr6:147176865-147176875 chr6:147178350-147178364 chr6:147177670-147177681
6	POLR2A	chr6:147178192-147179291	K562	blood:	n/a	n/a
7	POLR2A	chr6:147178251-147179562	K562	blood:	n/a	n/a
8	MAZ	chr6:147178480-147179464	K562	blood:	n/a	n/a
9	CCNT2	chr6:147178446-147179275	K562	blood:	n/a	n/a
10	CTCF	chr6:147178395-147178556	GM19238	blood:	n/a	chr6:147178501-147178509
11	TEAD4	chr6:147178237-147179447	K562	blood:	n/a	chr6:147178425-147178434
12	NR2F2	chr6:147178201-147179401	K562	blood:	n/a	n/a
13	NRF1	chr6:147178462-147179168	SK-N-SH	brain:	n/a	chr6:147178824-147178835
14	MYC	chr6:147178354-147179531	K562	blood:	n/a	n/a
15	MAX	chr6:147178488-147179385	K562	blood:	n/a	n/a
16	CTCF	chr6:147178360-147178510	HPF	lung:	n/a	chr6:147178501-147178509
17	POLR2A	chr6:147178243-147179618	K562	blood:	n/a	n/a
18	HMGN3	chr6:147178443-147179006	K562	blood:	n/a	n/a
19	IRF1	chr6:147178479-147179673	K562	blood:	n/a	chr6:147179483-147179500 chr6:147179479-147179499 chr6:147179483-147179497 chr6:147179475-147179486 chr6:147179487-147179497 chr6:147179481-147179495 chr6:147179473-147179487
20	RCOR1	chr6:147178287-147179440	K562	blood:	n/a	n/a
21	JUND	chr6:147178416-147179425	K562	blood:	n/a	chr6:147178979-147178991
22	RAD21	chr6:147178468-147179149	HCT-116	colon:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
23	POLR2A	chr6:147178338-147179431	K562	blood:	n/a	n/a
24	CTCF	chr6:147178474-147179072	MCF-7	breast:	n/a	chr6:147178755-147178773 chr6:147178757-147178778 chr6:147178760-147178770 chr6:147178758-147178771 chr6:147178501-147178509 chr6:147178758-147178767 chr6:147178758-147178771 chr6:147178756-147178772
25	RAD21	chr6:147178373-147179079	HCT-116	colon:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
26	CREB1	chr6:147178306-147179421	K562	blood:	n/a	n/a
27	CEBPB	chr6:147178336-147179512	K562	blood:	n/a	chr6:147178809-147178818 chr6:147178809-147178818 chr6:147178809-147178818
28	RAD21	chr6:147178188-147179761	SK-N-SH	brain:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
29	RAD21	chr6:147178484-147179302	IMR90	lung:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
30	CEBPB	chr6:147178469-147179218	MCF-7	breast:	n/a	chr6:147178809-147178818 chr6:147178809-147178818 chr6:147178809-147178818
31	RAD21	chr6:147178405-147179068	MCF-7	breast:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
32	RAD21	chr6:147178460-147179178	A549	lung:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
33	MYC	chr6:147178301-147179513	K562	blood:	n/a	n/a
34	CUX1	chr6:147178406-147179092	K562	blood:	n/a	n/a
35	UBTF	chr6:147178440-147179452	K562	blood:	n/a	n/a
36	TBP	chr6:147178460-147179065	K562	blood:	n/a	n/a
37	CEBPD	chr6:147178380-147179492	K562	blood:	n/a	chr6:147178809-147178818
38	POLR2A	chr6:147178328-147179467	K562	blood:	n/a	n/a
39	CTCF	chr6:147178381-147178544	GM19240	blood:	n/a	chr6:147178501-147178509
40	POLR2A	chr6:147178112-147179727	K562	blood:	n/a	n/a
41	BHLHE40	chr6:147178311-147179297	K562	blood:	n/a	n/a
42	POLR2A	chr6:147176013-147179639	K562	blood:	n/a	n/a
43	POLR2A	chr6:147175961-147179623	K562	blood:	n/a	n/a
44	TEAD4	chr6:147178191-147179614	K562	blood:	n/a	chr6:147178425-147178434
45	CTCF	chr6:147178370-147179158	A549	lung:	n/a	chr6:147178755-147178773 chr6:147178757-147178778 chr6:147178760-147178770 chr6:147178758-147178771 chr6:147178501-147178509 chr6:147178758-147178767 chr6:147178758-147178771 chr6:147178756-147178772
46	RAD21	chr6:147178490-147179113	H1-hESC	embryonic stem cell:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
47	RAD21	chr6:147178448-147179429	H1-hESC	embryonic stem cell:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
48	CBX3	chr6:147178462-147179497	K562	blood:	n/a	chr6:147178650-147178661
49	CTCF	chr6:147178427-147178549	Spleen_OC	spleen:	n/a	chr6:147178501-147178509
50	TRIM28	chr6:147178410-147179581	K562	blood:	n/a	chr6:147179370-147179378

No.	Distal block	Cell Line	Cell type
1	chr6:147176826..147178897-chr6:147521577..147523241,2	K562	blood:
2	chr6:147178357..147179200-chr6:147526683..147527596,2	K562	blood:
3	chr6:147178357..147179230-chr6:147543410..147544182,3	K562	blood:
4	chr6:147177011..147178784-chr6:147528174..147531299,3	K562	blood:
5	chr6:147178386..147179221-chr6:147703832..147704746,2	K562	blood:
6	chr6:147178467..147179520-chr6:147223209..147224373,3	MCF-7	breast:
7	chr6:147178362..147178887-chr6:147606280..147606878,2	MCF-7	breast:
8	chr6:147177851..147181465-chr6:147522179..147525344,4	K562	blood:

Variant related genes	Relation type
ENSG00000227748	TF binding region
ENSG00000233452	Chromatin interaction
ENSG00000164506	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1324680	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1408574	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1924695	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2328770	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs259370	0.81[CEU][hapmap]
rs259371	0.88[CEU][hapmap]
rs259385	0.81[CEU][hapmap]
rs477801	0.87[EUR][1000 genomes]
rs4896892	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6570778	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6915391	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6926089	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6929209	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9322079	0.85[CEU][hapmap];0.82[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs9399587	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9497647	0.90[AMR][1000 genomes];0.94[EUR][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	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147163200-147178800	Weak transcription	Right Atrium	heart
2	chr6:147163400-147178800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:147172200-147178800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:147172800-147178800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:147173600-147178800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:147173800-147178600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:147173800-147178600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:147173800-147178600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:147173800-147178800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:147175200-147178800	Weak transcription	Gastric	stomach
11	chr6:147175600-147178800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:147177000-147178800	Weak transcription	NHDF-Ad	bronchial
13	chr6:147178400-147178800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:147178400-147178800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:147178400-147178800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:147178400-147178800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr6:147178400-147178800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:147178400-147178800	Enhancers	Brain Cingulate Gyrus	brain
19	chr6:147178400-147178800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr6:147178400-147178800	Enhancers	Brain Substantia Nigra	brain
21	chr6:147178400-147178800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:147178400-147178800	Enhancers	Fetal Brain Male	brain
23	chr6:147178400-147179000	Active TSS	K562	blood
24	chr6:147178400-147179200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr6:147178400-147179200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr6:147178400-147179400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:147178400-147179400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:147178400-147179600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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